부산대학교 도서관

Ranganath LR; Milan AM; Hughes AT; Dutton JJ; Fitzgerald R; Briggs MC; Bygott H; Psarelli EE; Cox TF; Gallagher JA; Jarvis JC; van Kan C; Hall AK; Laan D; Olsson B; Szamosi J; Rudebeck M; Kullenberg T; Cronlund A; Svensson L; Junestrand C; Ayoob H; Timmis OG; Sireau N; Le Quan Sang KH; Genovese F; BRACONI, DANIELA; SANTUCCI, ANNALISA; Nemethova M; Zatkova A; McCaffrey J; Christensen P; Ross G; Imrich R; Rovensky J.

Annals of the Rheumatic Diseases

Pignolo RJ; Department of Medicine, Mayo Clinic, Rochester, MN, US.; Al Mukaddam M; Departments of Orthopedic Surgery & Medicine, The Center for Research in FOP and Related Disorders, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, US.; Baujat G; Département de Génétique, Institut Imagine, Hôpital Universitaire Necker-Enfants Malades, Université Paris Cité, Paris, France.; Brown MA; Faculty of Life Sciences and Medicine, King's College London, and Genomics England Ltd, London, UK.; De Cunto C; Pediatric Rheumatology Section, Department of Pediatrics, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.; Hsiao EC; Division of Endocrinology and Metabolism, the UCSF Metabolic Bone Clinic, the Eli and Edythe Broad Institute for Regeneration Medicine, and the Institute of Human Genetics, Department of Medicine, and the UCSF Program in Craniofacial Biology, University of California-San Francisco, San Francisco, CA, US.; Keen R; Centre for Metabolic Bone Disease, Royal National Orthopaedic Hospital, Stanmore, UK.; Le Quan Sang KH; Département de Génétique, Institut Imagine, Hôpital Universitaire Necker-Enfants Malades, Université Paris Cité, Paris, France.; Grogan DR; Ipsen, Cambridge, MA, US.; Marino R; Ipsen, Cambridge, MA, US. rosemarino@yahoo.com.; Strahs AR; Ipsen, Cambridge, MA, US.; Kaplan FS; Departments of Orthopedic Surgery & Medicine, The Center for Research in FOP and Related Disorders, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, US.

Publisher: BioMed Central Country of Publication: England NLM ID: 100968545 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2288 (Electronic) Linking ISSN: 14712288 NLM ISO Abbreviation: BMC Med Res Methodol Subsets: MEDLINE

Pignolo RJ; Department of Medicine, Mayo Clinic, Rochester, MN, USA.; Hsiao EC; Division of Endocrinology and Metabolism, the UCSF Metabolic Bone Clinic, the Eli and Edythe Broad Institute for Regeneration Medicine, and the Institute of Human Genetics, Department of Medicine, and the UCSF Program in Craniofacial Biology, University of California-San Francisco, San Francisco, CA, USA.; Al Mukaddam M; Departments of Orthopaedic Surgery & Medicine, The Center for Research in FOP and Related Disorders, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Baujat G; Département de Génétique, Institut IMAGINE and Hôpital Universitaire Necker-Enfants Malades, Paris, France.; Berglund SK; Department of Clinical Sciences, Pediatrics, Umeå University, Umeå, Sweden.; Brown MA; Faculty of Life Sciences and Medicine, King's College London, London, UK.; Genomics England Ltd, London, UK.; Cheung AM; Department of Medicine and Joint Department of Medical Imaging, University Health Network, University of Toronto, Toronto, ON, Canada.; De Cunto C; Pediatric Rheumatology Section, Department of Pediatrics, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.; Delai P; Centro de Pesquisa Clinica, Hospital Israelita Albert Einstein, São Paulo, Brazil.; Haga N; Department of Rehabilitation Medicine, The University of Tokyo Hospital, Tokyo, Japan.; Kannu P; Hospital for Sick Children, Toronto, ON, Canada.; Keen R; Centre for Metabolic Bone Disease, Royal National Orthopaedic Hospital, Stanmore, UK.; Le Quan Sang KH; Département de Génétique, Institut IMAGINE and Hôpital Universitaire Necker-Enfants Malades, Paris, France.; Mancilla EE; Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Marino R; Ipsen, Cambridge, MA, USA.; Strahs A; Ipsen, Cambridge, MA, USA.; Kaplan FS; Departments of Orthopaedic Surgery & Medicine, The Center for Research in FOP and Related Disorders, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Publisher: Oxford University Press Country of Publication: England NLM ID: 8610640 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-4681 (Electronic) Linking ISSN: 08840431 NLM ISO Abbreviation: J Bone Miner Res Subsets: MEDLINE

Marino R; Ipsen, Cambridge, MA, USA.; Dube L; Pleiades Consultation Inc., Phoenix, AZ, USA.; Ogier J; Ipsen, Les Ulis, France.; Le Quan Sang KH; Département de Génétique Clinique, Hôpital Universitaire Necker-Enfants Malades, Institut Imagine, Université Paris Cité, Paris, France. kimhanh.lequansang@gmail.com.

Publisher: Springer France Country of Publication: France NLM ID: 7608491 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2107-0180 (Electronic) Linking ISSN: 03787966 NLM ISO Abbreviation: Eur J Drug Metab Pharmacokinet Subsets: MEDLINE

Kou S; Division of Endocrinology and Metabolism, the UCSF Metabolic Bone Clinic, University of California- San Francisco, 513 Parnassus Ave., HSE901G, San Francisco, CA, 94143-0794, USA.; De Cunto C; Pediatric Rheumatology Section, Department of Pediatrics, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.; Baujat G; Department de Genetique Institut IMAGINE and Hôpital Necker-Enfants Malades, Paris, France.; Wentworth KL; Division of Endocrinology and Metabolism, the UCSF Metabolic Bone Clinic, University of California- San Francisco, 513 Parnassus Ave., HSE901G, San Francisco, CA, 94143-0794, USA.; Division of Endocrinology and Metabolism, Zuckerberg San Francisco General Hospital, San Francisco, California, USA.; Grogan DR; Clementia Pharmaceuticals, an Ipsen Company, Montreal, Canada.; Brown MA; Guy's & St. Thomas' NHS Foundation Trust and King's College London NIHR Biomedical Research Centre, London, England.; Di Rocco M; Unit of Rare Diseases, Department of Pediatrics, Giannina Gaslini Institute, Genoa, Italy.; Keen R; Centre for Metabolic Bone Disease, Royal National Orthopaedic Hospital, Stanmore, UK.; Al Mukaddam M; Department of Medicine, Perelman School Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Orthopaedic Surgery and The Center of Research for FOP & Related Disorders, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; le Quan Sang KH; Department de Genetique Institut IMAGINE and Hôpital Necker-Enfants Malades, Paris, France.; Masharani U; Division of Endocrinology and Metabolism, the UCSF Metabolic Bone Clinic, University of California- San Francisco, 513 Parnassus Ave., HSE901G, San Francisco, CA, 94143-0794, USA.; Kaplan FS; Department of Medicine, Perelman School Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Orthopaedic Surgery and The Center of Research for FOP & Related Disorders, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Pignolo RJ; Department of Medicine, Mayo Clinic, Rochester, MN, USA.; Hsiao EC; Division of Endocrinology and Metabolism, the UCSF Metabolic Bone Clinic, University of California- San Francisco, 513 Parnassus Ave., HSE901G, San Francisco, CA, 94143-0794, USA. Edward.Hsiao@ucsf.edu.; The Institute for Human Genetics and the Program in Craniofacial Biology, University of California, San Francisco, CA, USA. Edward.Hsiao@ucsf.edu.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Ranganath LR; Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Liverpool, UK.; Department of Musculoskeletal Biology, University of Liverpool, Liverpool, UK.; Milan AM; Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Liverpool, UK.; Department of Musculoskeletal Biology, University of Liverpool, Liverpool, UK.; Hughes AT; Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Liverpool, UK.; Department of Musculoskeletal Biology, University of Liverpool, Liverpool, UK.; Khedr M; Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Liverpool, UK.; Davison AS; Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Liverpool, UK.; Department of Musculoskeletal Biology, University of Liverpool, Liverpool, UK.; Shweihdi E; Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Liverpool, UK.; Norman BP; Department of Musculoskeletal Biology, University of Liverpool, Liverpool, UK.; Hughes JH; Department of Musculoskeletal Biology, University of Liverpool, Liverpool, UK.; Bygott H; Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Liverpool, UK.; Luangrath E; Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Liverpool, UK.; Fitzgerald R; Clinical Pharmacology, Royal Liverpool University Hospital, Liverpool, UK.; Psarelli EE; Liverpool Cancer Trials Unit, University of Liverpool, Liverpool, UK.; van Kan C; PSR group B.V, Hoofddorp, Netherlands.; Laan D; PSR group B.V, Hoofddorp, Netherlands.; Olsson B; Swedish Orphan Biovitrum AB (publ), Stockholm, Sweden.; Rudebeck M; Swedish Orphan Biovitrum AB (publ), Stockholm, Sweden.; Mankowitz L; Swedish Orphan Biovitrum AB (publ), Stockholm, Sweden.; Sireau N; AKU Society, Cambridge, UK.; Arnoux JB; Hôpital Necker-Enfants Malades, APHP, Paris Descartes University, Paris, France.; Le Quan Sang KH; Hôpital Necker-Enfants Malades, APHP, Paris Descartes University, Paris, France.; Jarvis JC; School of Sport and Exercise Science, Liverpool John Moores University, Liverpool, UK.; Genovese F; Nordic Bioscience, Herlev, Denmark.; Braconi D; Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, Siena, Italy.; Santucci A; Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, Siena, Italy.; Zatkova A; Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.; Glasova H; Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.; Stančík R; National Institute of Rheumatic Diseases, Piešťany, Slovakia.; Imrich R; Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.; Rhodes NP; Department of Musculoskeletal Biology, University of Liverpool, Liverpool, UK.; Gallagher JA; Department of Musculoskeletal Biology, University of Liverpool, Liverpool, UK.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Savarirayan R; Murdoch Children's Research Institute, Royal Children's Hospital and University of Melbourne, Parkville, Victoria, Australia. Electronic address: ravi.savarirayan@vcgs.org.au.; Irving M; Evelina London Children's Hospital, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom.; Harmatz P; UCSF Benioff Children's Hospital Oakland, Oakland, CA.; Delgado B; Hospital Universitario Virgen de la Victoria, Málaga, Spain.; Wilcox WR; Department of Human Genetics, Emory University School of Medicine, Emory University, Atlanta, GA.; Philips J; Vanderbilt University Medical Center, Nashville, TN.; Owen N; Vanderbilt University Medical Center, Nashville, TN.; Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Tofts L; Kids Rehab, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Charrow J; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.; Polgreen LE; Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA.; Hoover-Fong J; McKusick-Nathans Institute of Genetic Medicine and Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD.; Arundel P; Sheffield Children's NHS Foundation Trust, Sheffield Children's Hospital, Sheffield, United Kingdom.; Ginebreda I; Hospiat Universitari Quiron Dexeus, ICATME Foundation, Barcelona, Spain.; Saal HM; Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH.; Basel D; Medical College of Wisconsin, Milwaukee, WI.; Font RU; Hospital Sant Joan de Déu, Barcelona, Spain.; Ozono K; Osaka University Hospital, Osaka, Japan.; Bober MB; Nemours Children's Hospital, Delaware, Wilmington, DE.; Cormier-Daire V; Clinical Genetics, Université Paris Cité, INSERM UMR 1163, Institut Imagine, Hôpital Necker Enfants Maladies, Paris, France.; Le Quan Sang KH; Clinical Genetics, Université Paris Cité, INSERM UMR 1163, Institut Imagine, Hôpital Necker Enfants Maladies, Paris, France.; Baujat G; Clinical Genetics, Université Paris Cité, INSERM UMR 1163, Institut Imagine, Hôpital Necker Enfants Maladies, Paris, France.; Alanay Y; School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey.; Rutsch F; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany.; Hoernschemeyer D; University of Missouri Columbia, Columbia, MO.; Mohnike K; Otto-von-Guericke-Universität Magdeburg, Magdeburg, Germany.; Mochizuki H; Saitama Children's Medical Center, Saitama, Japan.; Tajima A; Saitama Children's Medical Center, Saitama, Japan.; Kotani Y; Tokushima University Hospital, Tokushima, Japan.; Weaver DD; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indiana University, Indianapolis, IN.; White KK; Seattle Children's Hospital, Seattle, WA.; Army C; BioMarin Pharmaceutical Inc, Novato, CA.; Larrimore K; BioMarin Pharmaceutical Inc, Novato, CA.; Gregg K; BioMarin Pharmaceutical Inc, Novato, CA.; Jeha G; BioMarin Pharmaceutical Inc, Novato, CA.; Milligan C; BioMarin (UK) Limited, London, United Kingdom.; Fisheleva E; BioMarin (UK) Limited, London, United Kingdom.; Huntsman-Labed A; BioMarin (UK) Limited, London, United Kingdom.; Day J; BioMarin (UK) Limited, London, United Kingdom.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Dube L; Pleiades Consultation Inc, Phoenix, Arizona, USA.; Haga N; Department of Rehabilitation Medicine, The University of Tokyo, Tokyo, Japan.; Grogan D; Ipsen, Newton, Massachusetts, USA.; Ogier J; Ipsen, Les Ulis, Île-de-France, France. julien.ogier@ipsen.com.; Le Quan Sang KH; Département de Génétique Clinique', Hôpital Universitaire Necker-Enfants Malades, Imagine, Université Paris Cité, Paris, France.

Publisher: Springer France Country of Publication: France NLM ID: 7608491 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2107-0180 (Electronic) Linking ISSN: 03787966 NLM ISO Abbreviation: Eur J Drug Metab Pharmacokinet Subsets: MEDLINE

Pignolo RJ; Department of Medicine, Mayo Clinic, Rochester, MN. Electronic address: pignolo.robert@mayo.edu.; Baujat G; Département de Génétique, Hôpital Universitaire Necker-Enfants Malades, Institut Imagine, Université Paris Cité, Paris, France.; Brown MA; Department of Medicine and Molecular Genetics, Faculty of Life Sciences and Medicine, School of Basic and Medical Biosciences, King's College London, London, United Kingdom; Genomics England, London, United Kingdom.; De Cunto C; Pediatric Rheumatology Section, Department of Pediatrics, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.; Hsiao EC; Division of Endocrinology and Metabolism, the UCSF Metabolic Bone Clinic, the Eli and Edyth Broad Institute for Regeneration Medicine, and the Institute of Human Genetics, Department of Medicine, and the UCSF Program in Craniofacial Biology, University of California San Francisco, San Francisco, CA.; Keen R; Centre for Metabolic Bone Disease, Royal National Orthopaedic Hospital, Stanmore, United Kingdom.; Al Mukaddam M; Departments of Orthopaedic Surgery and Medicine, Center for Research in FOP and Related Disorders, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.; Le Quan Sang KH; Département de Génétique, Hôpital Universitaire Necker-Enfants Malades, Institut Imagine, Université Paris Cité, Paris, France.; Wilson A; Ipsen, Cambridge, MA.; Marino R; Ipsen, Cambridge, MA.; Strahs A; Ipsen, Cambridge, MA.; Kaplan FS; Departments of Orthopaedic Surgery and Medicine, Center for Research in FOP and Related Disorders, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA. Electronic address: Frederick.Kaplan@pennmedicine.upenn.edu.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Braconi D; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy.; Geminiani M; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy.; Psarelli EE; Liverpool Clinical Trials Centre, University of Liverpool, Liverpool L69 3BX, UK.; Giustarini D; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy.; Marzocchi B; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy.; UOC Clinical Pathology, Siena University Hospital, 53100 Siena, Italy.; Rossi R; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy.; Bernardini G; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy.; Spiga O; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy.; Gallagher JA; Department of Musculoskeletal Biology, University of Liverpool, Liverpool L69 3BX, UK.; Le Quan Sang KH; Hôpital Necker-Enfants Malades, CEDEX 15, 75015 Paris, France.; Arnoux JB; Hôpital Necker-Enfants Malades, CEDEX 15, 75015 Paris, France.; Imrich R; Biomedical Research Center, Slovak Academy of Sciences, 845 05 Bratislava, Slovakia.; Al-Sbou MS; Department of Pharmacology, Alkaptonuria Research Office, Faculty of Medicine, Mutah University, Mutah, Karak 61710, Jordan.; College of Medicine, Ajman University, Ajman P.O. Box 346, United Arab Emirates.; Gornall M; Liverpool Clinical Trials Centre, University of Liverpool, Liverpool L69 3BX, UK.; Jackson R; Liverpool Clinical Trials Centre, University of Liverpool, Liverpool L69 3BX, UK.; Ranganath LR; Department of Musculoskeletal Biology, University of Liverpool, Liverpool L69 3BX, UK.; Department of Clinical Biochemistry and Metabolism, Royal Liverpool University Hospital, Liverpool L7 8XP, UK.; Santucci A; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE

Baujat G; Institut Imagine, Centre de Référence Maladies Osseuses Constitutionnelles, Université Paris Descartes-Sorbonne Paris Cité, Hôpital Necker-Enfants malades, 149 rue de Sèvres, 75015, Paris, France.; Choquet R; BNDMR, Assistance Publique Hôpitaux de Paris, Hôpital Necker Enfants Malades, F-75015, Paris, France.; INSERM, UPMC Université Paris 06, UMR_S 1142, LIMICS, F-75006, Paris, France.; Bouée S; CEMKA, Epidémiologie, 43 boulevard du Maréchal Joffre, 92340, Bourg La Reine, France. Stephane.bouee@cemka.fr.; Jeanbat V; CEMKA, Epidémiologie, 43 boulevard du Maréchal Joffre, 92340, Bourg La Reine, France.; Courouve L; CEMKA, Epidémiologie, 43 boulevard du Maréchal Joffre, 92340, Bourg La Reine, France.; Ruel A; BNDMR, Assistance Publique Hôpitaux de Paris, Hôpital Necker Enfants Malades, F-75015, Paris, France.; Michot C; Institut Imagine, Centre de Référence Maladies Osseuses Constitutionnelles, Université Paris Descartes-Sorbonne Paris Cité, Hôpital Necker-Enfants malades, 149 rue de Sèvres, 75015, Paris, France.; Le Quan Sang KH; Institut Imagine, Centre de Référence Maladies Osseuses Constitutionnelles, Université Paris Descartes-Sorbonne Paris Cité, Hôpital Necker-Enfants malades, 149 rue de Sèvres, 75015, Paris, France.; Lapidus D; LapidusData Inc., Oklahoma City, OK, USA.; Messiaen C; BNDMR, Assistance Publique Hôpitaux de Paris, Hôpital Necker Enfants Malades, F-75015, Paris, France.; Landais P; UPRES EA2415, Clinical Research University Hospital, Montpellier University, Montpellier, France.; BESPIM, Nimes University Hospital, Nîmes, France.; Cormier-Daire V; Institut Imagine, Centre de Référence Maladies Osseuses Constitutionnelles, Université Paris Descartes-Sorbonne Paris Cité, Hôpital Necker-Enfants malades, 149 rue de Sèvres, 75015, Paris, France.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Jones SA; Manchester Centre for Genomic Medicine, 6th floor, St Mary's Hospital, Central Manchester Foundation Trust, University of Manchester, Oxford Road, Manchester, M13 9WL, UK. simon.jones@cmft.nhs.uk.; Rojas-Caro S; Synageva BioPharma Corp., 33 Hayden Avenue, Lexington, MA, 02421, USA.; Quinn AG; Synageva BioPharma Corp., 33 Hayden Avenue, Lexington, MA, 02421, USA.; Present: IDBioPharm Consulting, LLC, Boston, MA, USA.; Friedman M; Alexion Pharmaceuticals, Inc., 100 College Street, New Haven, CT, 06510, USA.; Marulkar S; Alexion Pharmaceuticals, Inc., 100 College Street, New Haven, CT, 06510, USA.; Ezgu F; Gazi University Faculty of Medicine, Gazi Hospital, 10th Floor, Beşevler Ankara, Turkey.; Zaki O; Ain Shams University Pediatrics Hospital, 3, Kamal Raslan, Heliopolis, Cairo, 11771, Egypt.; Gargus JJ; University of California, Irvine, 2056 Hewitt Hall, 843 Health Sciences Road, Irvine, CA, 92697, USA.; Hughes J; Temple Street Children's University Hospital, 1 Temple Street, Dublin, 1, Ireland.; Plantaz D; Hôpital Couple-Enfant CHU Grenoble, Avenue Maquis du Grésivaudan, 38700 La Tronche, Grenoble, France.; Vara R; Evelina Children's Hospital, Westminster Bridge Road, London, SE1 7EH, UK.; Eckert S; Synageva BioPharma Corp., 33 Hayden Avenue, Lexington, MA, 02421, USA.; Arnoux JB; Hôpital Necker-Enfants Malades and IMAGINE Institute, 149 Rue de Sèvres, 75015, Paris, France.; Brassier A; Hôpital Necker-Enfants Malades and IMAGINE Institute, 149 Rue de Sèvres, 75015, Paris, France.; Le Quan Sang KH; Hôpital Necker-Enfants Malades and IMAGINE Institute, 149 Rue de Sèvres, 75015, Paris, France.; Valayannopoulos V; Hôpital Necker-Enfants Malades and IMAGINE Institute, 149 Rue de Sèvres, 75015, Paris, France.; Present: Sanofi Genzyme, Cambridge, MA, USA.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Bögershausen N; Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany.; Gatinois V; Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier, France.; University of Montpellier, Montpellier, France.; INSERM UMR1183, Montpellier, France.; Riehmer V; Institute of Human Genetics, University of Cologne, Cologne, Germany.; Kayserili H; Medical Genetics Department, Koç University School of Medicine (KUSOM), Istanbul, Turkey.; Becker J; Institute of Human Genetics, University of Cologne, Cologne, Germany.; Thoenes M; Institute of Human Genetics, University of Cologne, Cologne, Germany.; Simsek-Kiper PÖ; Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Medical Faculty, Ankara, Turkey.; Barat-Houari M; Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier, France.; INSERM UMR1183, Montpellier, France.; Elcioglu NH; Department of Pediatric Genetics, Marmara University Medical Faculty, Istanbul, Turkey.; Wieczorek D; Institute of Human Genetics, University of Duesseldorf, Duesseldorf, Germany.; Tinschert S; Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden, Germany.; Zentrum für Humangenetik, Medizinische Universität, Innsbruck, Austria.; Sarrabay G; Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier, France.; University of Montpellier, Montpellier, France.; INSERM UMR1183, Montpellier, France.; Strom TM; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Fabre A; Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier, France.; Baynam G; Genetic Services of Western Australia, Princess Margaret and King Edward Memorial Hospitals, Perth, Australia.; Western Australian Register of Developmental Anomalies, Perth, Australia.; Telethon Kids Institute, Perth, Australia.; School of Paediatrics and Child Health, University of Western Australia, Perth, Australia.; Sanchez E; INSERM UMR1183, Montpellier, France.; Nürnberg G; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Altunoglu U; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.; Capri Y; Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII University, Denis Diderot Medical School, Paris, France.; Isidor B; Department of Genetics, Nantes University Hospital, Nantes, France.; Lacombe D; Department of Medical Genetics, Bordeaux University, CHU Bordeaux, INSERM U1211, Bordeaux, France.; Corsini C; University of Montpellier, Montpellier, France.; INSERM UMR1183, Montpellier, France.; Department of Medical Genetics, Reference Center for Developmental Abnormalities, CHU, Montpellier, France.; Cormier-Daire V; Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, INSERM U1163, Paris, France.; Service de Génétique, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris, Paris, France.; Sanlaville D; HCL Genetic Department, INSERM U1028 CNRS UMR 5292, UCBL1, CRNL, GENDEV Team, Lyon, France.; Giuliano F; Department of Medical Genetics, l'Archet II Hospital, Nice, France.; Le Quan Sang KH; Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, INSERM U1163, Paris, France.; Kayirangwa H; Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, INSERM U1163, Paris, France.; Nürnberg P; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Meitinger T; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Boduroglu K; Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Medical Faculty, Ankara, Turkey.; Zoll B; Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany.; Lyonnet S; Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, INSERM U1163, Paris, France.; Service de Génétique, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris, Paris, France.; Tzschach A; Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden, Germany.; Verloes A; Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII University, Denis Diderot Medical School, Paris, France.; Di Donato N; Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden, Germany.; Touitou I; Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier, France.; University of Montpellier, Montpellier, France.; INSERM UMR1183, Montpellier, France.; Netzer C; Institute of Human Genetics, University of Cologne, Cologne, Germany.; Li Y; Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany.; Geneviève D; University of Montpellier, Montpellier, France.; INSERM UMR1183, Montpellier, France.; Department of Medical Genetics, Reference Center for Developmental Abnormalities, CHU, Montpellier, France.; Yigit G; Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany.; Wollnik B; Institute of Human Genetics, University Medical Center Goettingen, Goettingen, Germany.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Arnoux JB; Reference Centre for Inherited Metabolic Diseases Necker-Enfants Malades Hospital, Assistance Publique - Hôpitaux de Paris, 149 rue de Sèvres, Paris, 75015, France, jean-baptiste.arnoux@nck.aphp.fr.; Le Quan Sang KH; Brassier A; Grisel C; Servais A; Wippf J; Dubois S; Sireau N; Job-Deslandre C; Ranganath L; de Lonlay P

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Ranganath LR; Department of Clinical Biochemistry and Metabolic Medicine, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK; Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, UK. Electronic address: lrang@liv.ac.uk.; Psarelli EE; Liverpool Clinical Trials Centre, University of Liverpool, Liverpool, UK.; Arnoux JB; Hôpital Necker-Enfants Malades, Paris, France.; Braconi D; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, Siena, Italy.; Briggs M; Department of Ophthalmology, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK.; Bröijersén A; Swedish Orphan Biovitrum, Stockholm, Sweden.; Loftus N; Department of Physiotherapy, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK.; Bygott H; Department of Clinical Biochemistry and Metabolic Medicine, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK.; Cox TF; Liverpool Clinical Trials Centre, University of Liverpool, Liverpool, UK.; Davison AS; Department of Clinical Biochemistry and Metabolic Medicine, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK.; Dillon JP; Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, UK.; Fisher M; Department of Cardiology, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK.; FitzGerald R; Department of Clinical Pharmacology, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK.; Genovese F; Nordic Bioscience, Herlev, Denmark.; Glasova H; Institute of Clinical and Translational Research, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia; Institute of Pharmacology and Clinical Pharmacology, Slovak Medical University, Bratislava, Slovakia.; Hall AK; Cudos, Hoofddorp, Netherlands.; Hughes AT; Department of Clinical Biochemistry and Metabolic Medicine, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK.; Hughes JH; Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, UK.; Imrich R; Institute of Clinical and Translational Research, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia; National Institute of Rheumatic Diseases, Piešt'any, Slovakia.; Jarvis JC; School of Sport and Exercise Science, Liverpool John Moores University, Liverpool, UK.; Khedr M; Department of Clinical Biochemistry and Metabolic Medicine, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK.; Laan D; PSR Group, Hoofddorp, Netherlands.; Le Quan Sang KH; Hôpital Necker-Enfants Malades, Paris, France.; Luangrath E; Department of Clinical Biochemistry and Metabolic Medicine, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK.; Lukáčová O; National Institute of Rheumatic Diseases, Piešt'any, Slovakia.; Milan AM; Department of Clinical Biochemistry and Metabolic Medicine, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK.; Mistry A; Department of Radiology, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK.; Mlynáriková V; National Institute of Rheumatic Diseases, Piešt'any, Slovakia.; Norman BP; Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, UK.; Olsson B; Swedish Orphan Biovitrum, Stockholm, Sweden.; Rhodes NP; Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, UK.; Rovenský J; National Institute of Rheumatic Diseases, Piešt'any, Slovakia.; Rudebeck M; Swedish Orphan Biovitrum, Stockholm, Sweden.; Santucci A; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, Siena, Italy.; Shweihdi E; Department of Clinical Biochemistry and Metabolic Medicine, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK.; Scott C; AKU Society, Cambridge, UK.; Sedláková J; National Institute of Rheumatic Diseases, Piešt'any, Slovakia.; Sireau N; AKU Society, Cambridge, UK.; Stančík R; National Institute of Rheumatic Diseases, Piešt'any, Slovakia.; Szamosi J; Swedish Orphan Biovitrum, Stockholm, Sweden.; Taylor S; Department of Physiotherapy, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK.; van Kan C; PSR Group, Hoofddorp, Netherlands.; Vinjamuri S; Department of Nuclear Medicine, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK.; Vrtíková E; National Institute of Rheumatic Diseases, Piešt'any, Slovakia.; Webb C; Department of Ear, Nose and Throat, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK.; West E; Department of Dermatology, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK.; Záňová E; National Institute of Rheumatic Diseases, Piešt'any, Slovakia.; Zatkova A; Institute of Clinical and Translational Research, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.; Gallagher JA; Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, UK.

Publisher: The Lancet, Diabetes & Endocrinology Country of Publication: England NLM ID: 101618821 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2213-8595 (Electronic) Linking ISSN: 22138587 NLM ISO Abbreviation: Lancet Diabetes Endocrinol Subsets: MEDLINE

Duong, T.; Hamel, D.; Benlahrech, S.; Sang, KH Le Quan; Sauve-Martin, H.; De Prost, Y.; Roujeau, JC; Hadj-Rabia, S.

Journal of the European Academy of Dermatology and Venereology. Sept, 2009, Vol. 23 Issue 9, p1107, 1 p.

Pandolfo M; Department of Neurology, Erasme Hospital, Université Libre de Bruxelles, Brussels, Belgium.; Arpa J; Delatycki MB; Le Quan Sang KH; Mariotti C; Munnich A; Sanz-Gallego I; Tai G; Tarnopolsky MA; Taroni F; Spino M; Tricta F

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

Welsh, Joshua A.; Goberdhan, Deborah C.I.; O'Driscoll, Lorraine; Buzas, Edit I.; Blenkiron, Cherie; Bussolati, Benedetta; Cai, Houjian; Di Vizio, Dolores; Driedonks, Tom A.P.; Erdbrügger, Uta; Falcon‐Perez, Juan M.; Fu, Qing‐Ling; Hill, Andrew F.; Lenassi, Metka; Lim, Sai Kiang; Mahoney, Mỹ G.; Mohanty, Sujata; Möller, Andreas; Nieuwland, Rienk; Ochiya, Takahiro; Sahoo, Susmita; Torrecilhas, Ana C.; Zheng, Lei; Zijlstra, Andries; Abuelreich, Sarah; Bagabas, Reem; Bergese, Paolo; Bridges, Esther M.; Brucale, Marco; Burger, Dylan; Carney, Randy P.; Cocucci, Emanuele; Crescitelli, Rossella; Hanser, Edveena; Harris, Adrian L.; Haughey, Norman J.; Hendrix, An; Ivanov, Alexander R.; Jovanovic‐Talisman, Tijana; Kruh‐Garcia, Nicole A.; Faustino, Vroniqa Ku'Ulei‐Lyn; Kyburz, Diego; Lässer, Cecilia; Lennon, Kathleen M.; Lötvall, Jan; Maddox, Adam L.; Martens‐Uzunova, Elena S.; Mizenko, Rachel R.; Newman, Lauren A.; Ridolfi, Andrea; Rohde, Eva; Rojalin, Tatu; Rowland, Andrew; Saftics, Andras; Sandau, Ursula S.; Saugstad, Julie A.; Shekari, Faezeh; Swift, Simon; Ter‐Ovanesyan, Dmitry; Tosar, Juan P.; Useckaite, Zivile; Valle, Francesco; Varga, Zoltan; Pol, Edwin; Herwijnen, Martijn J.C.; Wauben, Marca H.M.; Wehman, Ann M.; Williams, Sarah; Zendrini, Andrea; Zimmerman, Alan J.; Ahmad, Samar; Ahmed, Dina Ak; Ahmed, Sarah H.; Aikawa, Elena; Akbar, Naveed; Akiyoshi, Kazunari; Al‐Adra, David P.; Al‐Masawa, Maimonah E.; Albanese, Manuel; Alberro, Ainhoa; Alcaraz, María José; Alexander‐Brett, Jen; Alexander, Kimberley L.; Ali, Nilufar; Alibhai, Faisal J.; Allelein, Susann; Allenby, Mark C.; Almeida, Fausto; Almousa, Sameh W.; Altan‐Bonnet, Nihal; Altei, Wanessa F.; Alvarez‐Llamas, Gloria; Alvarez, Cora L.; An, Hyo Jung; Anand, Krishnan; Anderson, Johnathon D.; Andriantsitohaina, Ramaroson; Ansari, Khairul I.; Anselmo, Achille; Antoniou, Anna; Aqil, Farrukh; Arab, Tanina; Archer, Fabienne; Arif, Syrine; Armstrong, David A.; Arntz, Onno J.; Arsène, Pierre; Arteaga‐Blanco, Luis; Asokan, Nandini; Aspelin, Trude; Atkin‐Smith, Georgia K.; Aubert, Dimitri; Ayyar, Kanchana K.; Azlan, Maryam; Azoidis, Ioannis; Bécot, Anaïs; Bach, Jean‐Marie; Bachurski, Daniel; Bae, Seoyoon; Baj‐Krzyworzeka, Monika; Balaj, Leonora; Balbi, Carolina; Balkom, Bas Wm; Ballal, Abhijna R.; Bano, Afsareen; Banzet, Sébastien; Bare, Yonis; Barile, Lucio; Barman, Bahnisikha; Barranco, Isabel; Barreca, Valeria; Bart, Geneviève; Barteneva, Natasha S.; Basso, Manuela; Batish, Mona; Bauer, Natalie R.; Baxter, Amy A.; Bazié, Wilfried W.; Bazzan, Erica; Beaumont, Joel Ej; Bebawy, Mary; Bebelman, Maarten P.; Bedina‐Zavec, Apolonija; Beetler, Danielle J.; Beke‐Somfai, Tamás; Belleannée, Clémence; Benedikter, Birke J.; Benediktsdóttir, Berglind E.; Berardi, Anna C.; Bergamelli, Mathilde; Bertolini, Irene; Bhattacharyya, Asima; Bhattacharyya, Suvendra N.; Biller, Steven J.; Billottet, Clotilde; Bissler, John J.; Blanc‐Brude, Olivier; Blijdorp, Charles J.; Bobis‐Wozowicz, Sylwia; Bodart‐Santos, Victor; Bodnár, Bernadett R.; Boilard, Eric; Boireau, Wilfrid; Bokun, Vladimir; Bollard, Stephanie M.; Bollini, Sveva; Bongiovanni, Antonella; Bongiovanni, Laura; Bonifay, Amandine; Boppart, Marni D.; Borràs, Francesc E.; Bosch, Steffi; Boselli, Daniela; Bottini, Massimo; Bouffard, Jeff; Boulanger, Chantal M.; Boutros, Paul C.; Boyadjian, Oscar; Boysen, Anders T.; Bozkurt, Batuhan T.; Bramich, Kyle P.; Braun, Fabian; Bravo‐Miana, Rocío Del Carmen; Breakefield, Xandra O.; Brenna, Santra; Brennan, Kieran; Brennan, Meadhbh Á; Breyne, Koen; Brigstock, David R.; Brisson, Alain R.; Brodie, Chaya; Bruno, Katelyn A.; Bucci, Cecilia; Buch, Shilpa; Buck, Amy H.; Bukva, Mátyás; Bulte, Jeff Wm; Buratta, Sandra; Burgy, Olivier; Burnier, Julia V.; Burrows, Kaiping; Busatto, Sara; Buzas, Krisztina; Byrd, J Brian; Cáceres‐Verschae, Albano; Caires, Hugo R.; Campos‐Silva, Carmen; Camussi, Giovanni; Candia, Paola; Carceller, Carmen; Fernandez‐Becerra, Carmen; Carrasco, Alexis G Murillo; Carter, David Rf; Cavallaro, Sara; Cavallero, Serena; Cavallero, Sophie; Cerda‐Troncoso, Cristóbal; Chahwan, Richard; Chalupská, Renata; Chamley, Lawrence W.; Chandra, Partha K.; Chang, Wen‐Wei; Charest, Al; Chen, Chihchen; Chen, Hao; Chen, Qiang; Chen, Shuai; Chen, Siyu; Chen, Yunxi; Cheng, Lesley; Chernyshev, Vasiliy S.; Chetty, Venkatesh Kumar; Chitti, Sai V.; Cho, Ssang‐Goo; Cho, Yoon‐Kyoung; Choi, Byeong Hyeon; Chutipongtanate, Somchai; Cicardi, Maria Elena; Cifuentes‐Rius, Anna; Ciullo, Alessandra; Clayton, Aled; Cleary, Jacob A.; Cocozza, Federico; Coffey, Robert J.; Collino, Federica; Colombo, Federico; Colosetti, Pascal; Compañ‐Bertomeu, Alvaro; Constanzo, Julie; Corbeil, Denis; Cordeiro‐Da‐Silva, Anabela; Costa, Júlia; Couch, Yvonne; Courageux, Yvan; Coutant, Kelly; Coyle, Beth; Cretich, Marina; Cronemberger‐Andrade, André; Crossland, Rachel E.; Cucher, Marcela A.; Czystowska‐Kuzmicz, Malgorzata; D' Acunzo, Pasquale; D' Agnano, Igea; D' Agostino, Vito G.; D' Angelo, Gisela; D' Arrigo, Daniele; D' Souza‐Schorey, Crislyn; Dagur, Raghubendra S.; Danielson, Kirsty M.; Das, Saumya; Dauphin, Thibaud; Davidson, Sean M.; Davies, Owen G.; Davies, Rebecca L.; Davis, Chelsea N.; Deep, Gagan; Degosserie, Jonathan; Van Delen, Mats; Deliwala, Vatsal; Dellar, Elizabeth R.; Van Deun, Jan; Dev, Apurba; Deville, Sarah; Devitt, Andrew; Dhondt, Bert; Dieterich, Lothar C.; Dittmer, Dirk P.; Dobosh, Brian; Dobra, Gabriella; Dogra, Navneet; Dohi, Eisuke; Dolo, Vincenza; Domashevich, Timothy V.; Dominici, Massimo; Dong, Liang; Doré, Etienne; Dragovic, Rebecca A.; Driedonks, Tom Ap; Drittanti, Lila; Droste, Marvin; Duan, Wei; Durmaz, Esmahan; Dutta, Suman; Eguchi, Takanori; Eichenberger, Ramon M.; Eitan, Erez; Ekström, Karin; Andaloussi, Samir El; Eldh, Maria; Elie‐Caille, Celine; Enciso‐Martinez, Agustin; Esmaeili, Rezvan; Ettelaie, Camille; Försönits, András I.; Fabbri, Muller; Falasca, Marco; Fan, Hongkuan; Fatima, Farah; Fazeli, Alireza; Fernández‐Rhodes, María; Fernandez‐Prada, Christopher; Ferraro, Mariola J.; Ferreira, Joao N.; Ferreira, Rafaela F.; Figueroa‐Hall, Leandra K.; Figueroa‐Valdés, Aliosha I.; Fioretti, Paolo V.; Flenady, Sabine; Flores‐Bellver, Miguel; Fok, Ellis K.; Fonseka, Pamali; Forbes, Karen; Ford, Verity J.; Fornaguera, Cristina; Forte, Dorian; Forte, Stefano; Fortunato, Orazio; Franklin, Jeffrey L.; Freitas, Daniela; Frelet‐Barrand, Annie; Fujita, Yu; Gärtner, Kathrin; Görgens, André; Gabriel, Áurea M.; Gabrielli, Martina; Gabrielsson, Susanne; Galinsoga, Alicia; Galisova, Andrea; Gamage, Teena Kjb; Gao, Yingtang; Garcia‐Contreras, Marta; Garcia, M Madhy Garcia; Garcia, Maria Noé; Gargiulo, Ernesto; Gee, Margaret M Mc; Genard, Géraldine C.; Geraci, Fabiana; Ghanam, Jamal; Ghatak, Subhadip; Ghavami, Mahlegha; Ghebosu, Raluca E.; Gho, Yong Song; Ghosal, Sayam; Giamas, Georgios; Giebel, Bernd; Gilbert, Caroline; Gimona, Mario; Girão, Henrique; Giusti, Ilaria; Gizzie, Evan A.; Glamočlija, Sofija; Glass, Sarah E.; Gobbo, Jessica; Goberdhan, Deborah Ci; Godbole, Nihar; Goetz, Jacky G.; Gololobova, Olesia; Gomez‐Florit, Manuel; Goncalves, Jenifer Pendiuk; Garibotti, Hernán González‐King; Gorgun, Cansu; Gori, Alessandro; Gorska, Sabina; Graner, Michael W.; Grau, Georges E.; Grech, Laura; Greening, David W.; Groß, Rüdiger M.; Gross, Julia C.; Gruber, Jens; Gualerzi, Alice; Guanzon, Dominic; Gudbergsson, Johann M.; Guerin, Coralie L.; Guerra, Flora; Guillén, Maria I.; Gujar, Vikramsingh; Guo, Wei; Gupta, Veer Bala; Gupta, Vivek Kumar; Gustafson, Dakota; Gyukity‐Sebestyén, Edina; Hölker, Patrick; Hade, Mangesh D.; Hagey, Daniel W.; Han, Chungmin; Han, Pingping; Hanayama, Rikinari; Handberg, Aase; Harada, Masako; Harmati, Maria; Harrison, Paul; Harrison, Rane A.; Haynes, Paul A.; He, Mei; Hegyesi, Hargita; Herwijnen, Martijn Jc; Hisey, Colin L.; Hochberg, Fred H.; Hoen, Esther Nm Nolte‐'T; Holcar, Marija; Holder, Beth; Holnthoner, Wolfgang; Holthofer, Harry; Hooper, D Craig; Hosseini‐Beheshti, Elham; Hosseinkhani, Baharak; Howard, Jane; Howe, Kathryn L.; Hoyle, Nicholas R.; Hrdy, Jiri; Hu, Guoku; Huang, Yiyao; Huber, Veronica; Hudoklin, Samo; Hufnagel, Antonia; Hulett, Mark D.; Hunt, Stuart; Hyenne, Vincent; Di Ianni, Emilio; Iannotta, Dalila; Ibrahim, Ahmed Ge; Ibrahim, Sherif A.; Ikezu, Seiko; Ikezu, Tsuneya; Im, Hyungsoon; Inal, Jameel M.; Inic‐Kanada, Aleksandra; Inngjerdingen, Marit; Inoshima, Yasuo; Ivanova, Alena; Izquierdo, Elena; Jørgensen, Malene Møller; Jackson, Hannah K.; Jacobsen, Soren; Jadue, Fernanda; Javeed, Naureen; Jay, Steven M.; Jayachandran, Muthuvel; Jayasinghe, Migara K.; Jenster, Guido; Jeppesen, Dennis K.; Jerónimo, Carmen; Jiang, Linglei; Jin, Jing; Jingushi, Kentaro; Jo, Dong‐Gyu; Joerger‐Messerli, Marianne S.; Jones, Jennifer C.; Jones, Melissa K.; Jong, Olivier G.; Ferrante Jr, Anthony W.; Coleman Jr, Leon G.; Juncker, David; Jung, Stephanie; Jurek, Benjamin; Jurga, Marcin; Justilien, Verline; Kabani, Mehdi; Kalluri, Raghu; Kamali‐Moghaddam, Masood; Kanada, Masamitsu; Kang, Taeyoung; Kano, Shin‐Ichi; Kaparakis‐Liaskos, Maria; Karnas, Elżbieta; Karoichan, Antoine; Kashanchi, Fatah; Kashani, Sara Assar; Kashyap, Namita N.; Katsur, Miroslava; Kau‐Strebinger, Silvio; Kauffman, Amy C.; Kaur, Sukhbir; Kehoe, Oksana; Kelwick, Richard Jr; Kenari, Amirmohammad Nasiri; Kestecher, Brachyahu M.; Keulers, Tom G.; Van Keuren‐Jensen, Kendall R.; Khalaj, Kasra; Khamari, Delaram; Khanabdali, Ramin; Khomyakova, Elena; Khoo, Amanda; Kim, Daniel H.; Kim, Dongin; Kim, Han Sang; Kim, In‐San; Kim, Soo; Kim, Yohan; Kima, Peter E.; Kislinger, Thomas; Klingeborn, Mikael; Knight, Rob; Komuro, Hiroaki; Koncz, Anna; Konstantinou, Timothea; Koog, Luke; Kooijmans, Sander Aa; Kornek, Miroslaw T.; Kosanović, Maja; Kostallari, Enis; Koukoulis, Tiana F.; Kourembanas, Stella; Krämer‐Albers, Eva‐Maria; Kralj‐Iglic, Veronika; Krasemann, Susanne; Krasnodembskaya, Anna D.; Krawczynska, Natalia J.; Kreft, Mateja E.; Kuehn, Meta J.; Kuipers, Marije E.; Kulaj, Konxhe; Kuligowski, Julia; Kumagai, Yumi; Kumar, Ashish; Kumar, Saroj; Kumar, Sharad; Kumari, Meena; Kundrotas, Gabrielis; Kurochkin, Igor V.; Kuroda, Masahiko; Kurzawa‐Akanbi, Marzena; Kweskin, Sasha J.; Lázaro‐Ibáñez, Elisa; Lőrincz, Ákos M.; Lai, Andrew; Lai, Charles P.; Laitinen, Saara; Landreville, Solange; Lange, Sigrun; Langevin, Scott M.; Langlois, Marc‐André; Languino, Lucia R.; Lannigan, Joanne; Lark, Daniel S.; Larregina, Adriana T.; Laurent, Louise C.; Laurin, David; Lavieu, Gregory; Lawson, Charlotte; Le Lay, Soazig; Leandro, Kevin; Ledreux, Aurélie; Lee, Changjin; Lee, Dong‐Sup; Lee, Hakho; Lee, Heon‐Jin; Lee, Sun Young; Lee, Tae Ryong; Lee, Wai‐Leng; Lefterov, Iliya; Lei, Xinhua; Leivo, Janne; Lemaire, Quentin; Leme, Adriana F Paes; Lemon, Stanley M.; Lenzini, Stephen; Leor, Jonathan; Levy, Efrat; Li, Bo; Li, Guoping; Li, Jiao Jiao; Li, Qiubai; Li, Xinlei; Liang, Xiuming; Lim, Rebecca; Limongi, Tania; Linē, Aija; Lins, Paula Pincela; Lippens, Lien; Liu, Guanshu; Llorente, Alicia; Longjohn, Modeline N.; Loo, Fons Aj; Lorenowicz, Magdalena J.; Lorico, Aurelio; Loudig, Olivier; Loyer, Xavier; Lozano‐Andrés, Estefanía; Lu, Biao; Lu, Quan; Lubart, Quentin; Lucien, Fabrice; Lunavat, Taral R.; Lundberg, Ludwig Ermann; Lundy, David J.; Luoto, Jens C.; Lyden, David C.; Müller, Janis A.; Macphee, Daniel J.; Madec, Elise; Magaña, Setty M.; Mahairaki, Vasiliki; Malhi, Harmeet; Malnou, Cécile E.; Mamand, Doste R.; Man, Kenny; Manno, Mauro; Mantel, Pierre‐Yves; Marangon, Tecla; Marbán, Eduardo; Marcilla, Antonio; Maremanda, Krishna P.; Margolis, Leonid; Mariñas‐Pardo, Luis; Marić, Ivica; Martín, Silvia Sánchez; Martínez‐Martínez, Eduardo; Martel, Catherine; Martin‐Duque, Pilar; Martin‐Jaular, Lorena; Martinez‐Murillo, Paola A.; Martinez‐Pacheco, Sarai; Martins‐Marques, Tania; Mary, Benjamin; Marzan, Akbar L.; Matamoros‐Angles, Andreu; Mathivanan, Suresh; Matsuzaki, Juntaro; Mayan, Maria D.; Mazzeo, Carla; Mbengue, Mariama; Mccann, Mark J.; Mcilvenna, Luke C.; Mcvey, Mark J.; Meisner‐Kober, Nicole; Mellergaard, Maiken; Melli, Giorgia; Menck, Kerstin; Menjivar, Nico G.; Menon, Ramkumar; Mentkowski, Kyle I.; Miklavcic, John J.; Miklosi, Andras G.; Milutinovic, Bojana; Minciacchi, Valentina R.; Mirzaei, Mehdi; Mishra, Shalini; Mitchell, Megan I.; Mladenović, Danilo; Mohamadi, Eqbal; Momen‐Heravi, Fatemeh; Mondal, Sujan K.; Monguió‐Tortajada, Marta; Moon, Jisook; Morandi, Mattia I.; Moreau, Violaine; Moreira, Lissette Retana; Morelli, Adrian E.; Mori, Marcelo A.; Morimoto, Masahiro; Mosser, Mathilde; Motaung, Thabiso E.; Moussay, Etienne; Mugoni, Vera; Mullier, Francois; Muraca, Maurizio; Murugesan, Saravanakumar; Musante, Luca; Musicò, Angelo; Németh, Afrodité; Németh, Krisztina; Nadeau, Amélie; Nam, Gi‐Hoon; Naora, Honami; Natoli, Riccardo; Nawaz, Muhammad; Nazarenko, Irina; Ndukaife, Justus C.; Nedeva, Christina; Nejsum, Peter; Nelissen, Inge; Neri, Christian; Neri, Tommaso; Neviani, Paolo; Ng, Chiew Yong; Niel, Guillaume; Nikiforova, Nadezhda; Nimrichter, Leonardo; Nitin, Chitranshi; Njock, Makon‐Sébastien; Noël, Daniele; Noghero, Alessio; Nolan, John P.; Noppen, Sam; Hooten, Nicole Noren; Novaes, Antonio Da Silva; O'Loghlen, Ana; Oesterreicher, Johannes; Oh, Seung W.; Oláh, Attila; Olivier, Martin; Bagge, Roger Olofsson; Ong, Siew Ling; Ortiz, Angelica; Ortiz, Luis A.; Østergaard, Ole; Osorio, Omar A.; Osteikoetxea, Xabier; Ostrowski, Matias; Otaegui, David; Otahal, Alexander; Ozawa, Patricia M M.; Ozkocak, Dilara C.; Pálóczi, Krisztina; Pérez‐González, Rocío; Pachane, Bianca C.; Padinharayil, Hafiza; Paget, Daan; Paggetti, Jerome; Palacio, Paola C Loreto; Pallasch, Christian P.; Palmulli, Roberta; Pang, Bairen; Paniushkina, Liliia; Pantazi, Paschalia; Paolini, Lucia; Papademetrio, Daniela L.; Parisse, Pietro; Park, Dong Jun; Park, Juhee; Park, Young‐Gyun; Patton, James G.; Peake, Nicholas J.; Pegtel, D Michiel; Peinado, Héctor; De Almeida, Luis Pereira; Perut, Francesca; Pfaffl, Michael W.; Pfeiffer, Annika; Phan, Thanh Kha; Phinney, Donald G.; Phylactou, Leonidas A.; Picciolini, Silvia; Pietrowska, Monika; Piffoux, Max; Pinheiro, Cláudio; Pink, Ryan C.; Pleet, Michelle L.; Pocsfalvi, Gabriella; Poh, Qi Hui; Poojary, Ganesha; Poon, Ivan Kh; Poppa, Giuseppina; Portillo, Hernando A.; Pospichalova, Vendula; Potter, Shirley; Powell, Bonita H.; Powis, Simon J.; Prada, Ilaria; Prasadam, Indira; Preußer, Christian; Pua, Heather H.; Pucci, Ferdinando; Puhm, Florian; Puig, Berta; Pulliam, Lynn; Purnianto, Adityas; Puutio, Johanna Mm; Quilang, Rachel C.; Rabbani, Piul S.; Rackov, Gorjana; Radeghieri, Annalisa; Radu, Claudia M.; Raffai, Robert L.; Raghav, Alok; Rahbari, Mohammad; Rahman, Md Matiur; Rahman, Md Mostafizur; Rai, Alex J.; Raimondo, Stefania; Raju, Sneha; Rak, Janusz; Ramaswamy, Lausonia; Ramirez‐Ricardo, Javier; Ramirez, Marcel I.; Rani, Shikha; Raposo, Graca; Rather, Hilal A.; Razim, Agnieszka; Reale, Antonia; Reategui, Eduardo; Reddel, Caroline J.; Reddy, Shivakumar K.; Redenti, Stephen; Reed, Samantha L.; Regev‐Rudzki, Neta; Reiners, Katrin S.; Resnik, Nataša; Rice, Gregory E.; Ricklefs, Franz L.; Rilla, Kirsi; Rimmer, Michael P.; Roballo, Kelly Cs; Robbins, Paul D.; Roberts, David D.; Roca, Jordi; Rodal, Avital A.; Rodrigues‐Junior, Dorival M.; Rodrigues, Marcio L.; Roefs, Marieke T.; Rogers, Russell G.; Romani, Rita; Romano, Miriam; Rome, Sophie; Romih, Rok; Romolo, Anna; De Rossi, Tatiane; Rouschop, Kasper M.; Routenberg, David A.; Roux, Quentin; Royen, Martin E.; Rozo, Annaïg J.; Rufino‐Ramos, David; Rughetti, Aurelia; Russell, Ashley E.; Rutter, Stephanie F.; Rysmakhanov, Myltykbay S.; Sánchez, Catherine A.; Sadovsky, Yoel; Safavi‐Sohi, Reihaneh; Sagar, Ram; Saidu, Nathaniel Eb; Saint‐Pol, Julien; Salas‐Huenuleo, Edison; Salazar‐Puerta, Ana I.; Saleem, Ayesha; Salekdeh, Ghasem Hosseini; Salomon, Carlos; Salviano‐Silva, Amanda; Salybekov, Amankeldi A.; Samuels, Mark; Santavanond, Jascinta P.; Santoro, Jessie; Santos, Mark; Sanwlani, Rahul; Saul, Meike J.; Schøyen, Tine Hiorth; Schabussova, Irma; Scharrig, Emilia; Schekman, Randy; Schiavi‐Tritz, Jessica; Schiffelers, Raymond M.; Schmid, Anna M.; Schneider, Raphael; Schneider, Stefan; Schoeberlein, Andreina; Schorey, Jeffrey S.; Seo, Naohiro; Seras‐Franzoso, Joaquin; Shahi, Sanjay; Shatnyeva, Olga; Shea, Deanna F.; Shelke, Ganesh V.; Shetty, Ashok K.; Shiba, Kiyotaka; Shiju, Thomas Michael; Shrivastava, Surya; Shukla, Sachin; Siljander, Pia R‐M; Silva, Andreia M.; Singh, Ajay P.; Singh, Sangeeta; Skliar, Mikhail; Skog, Johan; Sluijter, Joost Pg; Snyder, Orman L.; Soekmadji, Carolina; Somaida, Ahmed; Somiya, Masaharu; Soroczyńska, Karolina; Sotillo, Javier; Souza‐Fonseca‐Guimaraes, Fernando; Spada, Sheila; Spiers, Harry Vm; Spitzberg, Joshua D.; Srivastava, Akhil; Srivastava, Amit K.; Stępień, Ewa Ł; St‐Denis‐Bissonnette, Frederic; Stahl, Philip D.; Stam, Janine; Stambouli, Oumaima; Stanton, Bruce A.; Stassen, Frank Rm; Staufer, Oskar; Steiner, Loïc; Stepanova, Ganna; Stoka, Veronika; Stoorvogel, Willem; Von Strandmann, Elke Pogge; Strunk, Dirk; Stylli, Stanley S.; Su, Huaqi; Subramanian, Subbaya; Sui, Bingdong; Sukreet, Sonal; Sulaiman, Elias; Sung, Bong Hwan; Sunkara, Vijaya; Suo, Zucai; Svenningsen, Per; Swatler, Julian; Symonds, Emma Kc; Szeifert, Viktoria; Szigyártó, Imola Cs; Tóth, Eszter Á; Taşlı, Neslihan P.; Tahara, Hidetoshi; Takahashi, Ryou‐U; Takakura, Yoshinobu; Takikawa, Osamu; Takov, Kaloyan; Tang, Vera A.; Taverna, Simona; Tawil, Nadim; Teeuwen, Loes; Tejedor, Sandra; Tertel, Tobias; Théry, Clotilde; Thakur, Abhimanyu; Thompson‐Felix, Tara; Tian, Changhai; Tikhonov, Aleksei; Tiwari, Swasti; Toh, Wei Seong; Tomes, John J.; Tonoli, Elisa; Trinidad, Camille V.; Tritten, Lucienne; Trivedi, Rucha; Troyer, Zach; Tsamchoe, Migmar; Tscherrig, Vera; Tsering, Thupten; Turkova, Kristyna; Tutanov, Oleg S.; Ueda, Koji; Upadhya, Dinesh; Urabe, Fumihiko; Urbanelli, Lorena; Urzì, Ornella; Vacchi, Elena; Vader, Pieter; Vago, Riccardo; Valadi, Hadi; Valkonen, Sami; Varas‐Godoy, Manuel; Varga, Zoltán; Vasconcelos, M Helena; Vechetti, Ivan J.; Veiga, Sara I.; Vella, Laura J.; Velot, Émilie; Verweij, Frederik J.; Vestad, Beate; Vinay, Ludovic; Viola, Margarida; Visnovitz, Tamás; Vreeland, Wyatt N.; Vukman, Krisztina V.; Wade, Philippa K.; Wakker, Simonides I.; Walther, Lucas; Wang, Tong; Wang, Xiaoqin; Watson, Dionysios C.; Wauben, Marca Hm; Weaver, Alissa M.; Webber, Jason P.; Weber, Viktoria; Weiss, Luisa; Weiss, Mark L.; Weiss, René; Weissleder, Ralph; Wen, Yi; Wever, Olivier; Wheelock, Asa M.; White, Katherine E.; Whitehead, Bradley; Whiteside, Theresa L.; Whitley, Joseph; Wiener, Zoltán; Wijnen, Andre J.; Wiklander, Oscar Pb; Winston, Charisse N.; Witwer, Kenneth W.; Wolf, Martin; Wolfram, Joy; Wu, Liang; Wu, Yunjie; Wysmołek, Magdalena E.; Xander, Patricia; Xavier, Cristina Pr; Xiao, Yu; Xu, Rong; Yáñez‐Mó, María; Yamamoto, Tomofumi; Yamamoto, Yuki; Yamamoto, Yusuke; Yan, Xiaomei; Yang, Lifang; Yang, Yongkang; Yarani, Reza; Yea, Kyungmoo; Yedigaryan, Laura; Yenuganti, Vengala Rao; Yerneni, Saigopalakrishna S.; Yeung, Vincent; Yildizhan, Yagmur; Yin, Hang; Yokoi, Akira; Yoshioka, Yusuke; You, Yang; Yuan, Ling‐Qing; Yunga, Samuel Tassi; Zakeri, Amin; Zani, Augusto; Zanoni, Michele; Zappulli, Valentina; Zarovni, Natasa; Zarubova, Jana; Zempleni, Janos; Žėkas, Vytautas; Zhang, Hao; Zhang, Qin; Zhao, Zheng; Zhou, Yinghong; Zickler, Antje M.; Zimmermann, Pascale; Zivkovic, Angela M.; Zocco, Davide; Zuba‐Surma, Ewa K.; Zubair, Haseeb

Journal of Extracellular Vesicles. February, 2024, Vol. 13 Issue 2

Le Quan Sang KH; Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker-Enfants Malades, AP-HP, Université Paris Descartes, 149 Rue de Sèvres, 75015 Paris, France.; Arnoux JB; Mamoune A; Saint-Martin C; Bellanné-Chantelot C; Valayannopoulos V; Brassier A; Kayirangwa H; Barbier V; Broissand C; Fabreguettes JR; Charron B; Thalabard JC; de Lonlay P

Publisher: Oxford University Press Country of Publication: England NLM ID: 9423848 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1479-683X (Electronic) Linking ISSN: 08044643 NLM ISO Abbreviation: Eur J Endocrinol Subsets: MEDLINE

Margot H; Service de génétique médicale, CHU de Bordeaux, Bordeaux, France.; Boursier G; Département de génétique médicale, Maladies rares et médecine personnalisée, CHU de Montpellier, Montpellier, France.; INSERM U1183, Université de Montpellier, Montpellier, France.; Duflos C; Département d'Information Médicale, CHU Montpellier, Montpellier, France.; Sanchez E; Département de génétique médicale, Maladies rares et médecine personnalisée, CHU de Montpellier, Montpellier, France.; INSERM U1183, Université de Montpellier, Montpellier, France.; Amiel J; Fédération de Génétique et Institut Imagine, Hôpital Necker-Enfants Malades, AP-HP et INSERM UMR1163, Paris Descartes-Sorbonne Paris Cité University, Paris, France.; Andrau JC; Institut de Génétique Moléculaire de Montpellier (IGMM), Univ Montpellier, Montpellier, France.; Arpin S; Service de génétique, CHU de Tours, UMR 1253, iBrain, Université de Tours, Inserm, Tours, France.; Brischoux-Boucher E; Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France.; Boute O; Centre de référence maladies rares pour les anomalies du développement Nord-Ouest, Clinique de Génétique médicale, CHU de Lille et EA7364, Université de Lille, Lille, France.; Burglen L; Centre de référence des malformations et maladies congénitales du cervelet, département de génétique et embryologie médicale, APHP, GHUEP, Hôpital Trousseau, Paris, France.; Caille C; Service de génétique médicale, CHU de Brest, Brest, France.; Capri Y; Service de génétique médicale, AP-HP Robert-Debré, Paris, France.; Collignon P; Service de génétique médicale, CHI de Toulon, Toulon, France.; Conrad S; Service de génétique médicale, CHU de Nantes, Nantes, France.; Cormier-Daire V; Fédération de Génétique et Institut Imagine, Hôpital Necker-Enfants Malades, AP-HP et INSERM UMR1163, Paris Descartes-Sorbonne Paris Cité University, Paris, France.; Delplancq G; Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France.; Dieterich K; Service de génétique médicale, CHU de Grenoble, Grenoble, France.; Dollfus H; Service de génétique médicale, CHU de Strasbourg, Strasbourg, France.; Fradin M; Service de génétique clinique, CHU de Rennes, Univ. Rennes, Institute of Genetics and Development of Rennes (IGDR) UMR6290 CNRS, Rennes, France.; Faivre L; Service de génétique médicale et centre de référence Anomalies du Développement et Syndromes Malformatifs, CHU de Dijon, Dijon, France.; Fernandes H; Service d'onco hématologie pédiatrique, CHU de Bordeaux, Bordeaux, France.; Centre de référence des cytopénies auto-immunes de l'enfant, CHU de Bordeaux, Bordeaux, France.; INSERM CICP, Université de Bordeaux, Bordeaux, France.; Francannet C; Service de génétique médicale, CHU de Clemont-Ferrand, Clermont-Ferrand, France.; Gatinois V; Département de génétique médicale, Maladies rares et médecine personnalisée, CHU de Montpellier, Montpellier, France.; INSERM U1183, Université de Montpellier, Montpellier, France.; Gerard M; Service de génétique médicale, CHU de Caen, Caen, France.; Goldenberg A; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.; Ghoumid J; Centre de référence maladies rares pour les anomalies du développement Nord-Ouest, Clinique de Génétique médicale, CHU de Lille et EA7364, Université de Lille, Lille, France.; Grotto S; Service de génétique médicale, AP-HP Robert-Debré, Paris, France.; Guerrot AM; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.; Guichet A; Service de génétique médicale, CHU d'Angers, Angers, France.; Isidor B; Service de génétique médicale, CHU de Nantes, Nantes, France.; Jacquemont ML; Service de génétique médicale, CHU de la Reunion, Saint-Pierre, France.; Centre de Référence Anomalies du développement et Syndromes malformatifs du Sud-Ouest Occitanie Réunion, Saint-Pierre, France.; Julia S; Service de génétique médicale, CHU de Toulouse, Toulouse, France.; Khau Van Kien P; Service de génétique médicale, CHU de Nîmes, Nîmes, France.; Legendre M; Service de génétique médicale, CHU de Bordeaux, Bordeaux, France.; Centre de Référence Anomalies du développement et Syndromes malformatifs du Sud-Ouest Occitanie Réunion, Saint-Pierre, France.; Le Quan Sang KH; Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, Paris, France.; Leheup B; Service de génétique médicale, CHU de Nancy, Nancy, France.; Lyonnet S; Fédération de Génétique et Institut Imagine, Hôpital Necker-Enfants Malades, AP-HP et INSERM UMR1163, Paris Descartes-Sorbonne Paris Cité University, Paris, France.; Magry V; Service de génétique médicale, CHU de Clemont-Ferrand, Clermont-Ferrand, France.; Manouvrier S; Centre de référence maladies rares pour les anomalies du développement Nord-Ouest, Clinique de Génétique médicale, CHU de Lille et EA7364, Université de Lille, Lille, France.; Martin D; Service de génétique médicale, CH du Mans, Le Mans, France.; Morel G; Service de génétique médicale, CHU de Nice, Nice, France.; Munnich A; Fédération de Génétique et Institut Imagine, Hôpital Necker-Enfants Malades, AP-HP et INSERM UMR1163, Paris Descartes-Sorbonne Paris Cité University, Paris, France.; Naudion S; Service de génétique médicale, CHU de Bordeaux, Bordeaux, France.; Centre de Référence Anomalies du développement et Syndromes malformatifs du Sud-Ouest Occitanie Réunion, Saint-Pierre, France.; Odent S; Service de génétique clinique, CHU de Rennes, Univ. Rennes, Institute of Genetics and Development of Rennes (IGDR) UMR6290 CNRS, Rennes, France.; Perrin L; Service de génétique médicale, AP-HP Robert-Debré, Paris, France.; Petit F; Centre de référence maladies rares pour les anomalies du développement Nord-Ouest, Clinique de Génétique médicale, CHU de Lille et EA7364, Université de Lille, Lille, France.; Philip N; Service de génétique médicale, CHU de Marseille, Marseille, France.; Rio M; Fédération de Génétique et Institut Imagine, Hôpital Necker-Enfants Malades, AP-HP et INSERM UMR1163, Paris Descartes-Sorbonne Paris Cité University, Paris, France.; Robbe J; Service de génétique médicale, CHU de Marseille, Marseille, France.; Rossi M; Service de génétique médicale, CHU de Lyon, Lyon, France.; Sarrazin E; Centre de Référence Anomalies du développement et Syndromes malformatifs du Sud-Ouest Occitanie Réunion, Saint-Pierre, France.; Toutain A; Service de génétique, CHU de Tours, UMR 1253, iBrain, Université de Tours, Inserm, Tours, France.; Van Gils J; Service de génétique médicale, CHU de Bordeaux, Bordeaux, France.; Centre de Référence Anomalies du développement et Syndromes malformatifs du Sud-Ouest Occitanie Réunion, Saint-Pierre, France.; INSERM U1211, Université de Bordeaux, Bordeaux, France.; Vera G; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.; Verloes A; Service de génétique médicale, AP-HP Robert-Debré, Paris, France.; Weber S; Service de génétique médicale, CHU de Caen, Caen, France.; Whalen S; Service de génétique médicale, AP-HP Pitié Salpétrière, Paris, France.; Sanlaville D; Service de génétique médicale, CHU de Lyon, Lyon, France.; Lacombe D; Service de génétique médicale, CHU de Bordeaux, Bordeaux, France.; Centre de Référence Anomalies du développement et Syndromes malformatifs du Sud-Ouest Occitanie Réunion, Saint-Pierre, France.; INSERM U1211, Université de Bordeaux, Bordeaux, France.; Aladjidi N; Service d'onco hématologie pédiatrique, CHU de Bordeaux, Bordeaux, France.; Centre de référence des cytopénies auto-immunes de l'enfant, CHU de Bordeaux, Bordeaux, France.; INSERM CICP, Université de Bordeaux, Bordeaux, France.; Geneviève D; Département de génétique médicale, Maladies rares et médecine personnalisée, CHU de Montpellier, Montpellier, France. d-genevieve@chu-montpellier.fr.; INSERM U1183, Université de Montpellier, Montpellier, France. d-genevieve@chu-montpellier.fr.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE