부산대학교 도서관

Fauroux B; AP-HP Necker-Enfants Malades University Hospital and Paris Cité University, and EA 7330 VIFASOM, Paris University, Paris, France. brigitte.fauroux@aphp.fr.; AlSayed M; King Faisal Specialist Hospital and Research Centre in Riyadh, Riyadh, Kingdom of Saudi Arabia.; Ben-Omran T; Division of Genetics and Genomic Medicine, Sidra Medicine & Hamad Medical Corporation, Doha, Qatar.; Boero S; Istituto Giannina Gaslini, Genoa, Italy.; Boon M; Department of Pediatrics, University Hospital Leuven, Leuven, Belgium.; Cormier-Daire V; AP-HP Necker-Enfants Malades University Hospital and Paris Cité University, and EA 7330 VIFASOM, Paris University, Paris, France.; Fredwall S; TRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, Nesodden, Norway.; Guillen-Navarro E; Medical Genetics Division & Pediatrics Department, Virgen de la Arrixaca University Hospital, IMIB-Pascual Parrilla, University of Murcia, CIBERER-ISCIII, Murcia, Madrid, Spain.; Irving M; Guy's and St Thomas' NHS Foundation Trust, London, UK.; Kunkel P; University Medical Centre Mannheim, Mannheim, Germany.; Madureira N; Hospital Pediátrico de Coímbra, Unidade Local de Saúde de Coímbra, Coimbra, Portugal.; Maghnie M; IRCCS Istituto Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, and Pediatric Endocrinology Unit, IRCCS Giannina Gaslini, Genoa, Italy.; Milerad J; Paediatric Sleep Research Unit, Astrid Lindgren´S Children's Hospital, Östgötagatan 100, Box 4700, 116 92, Stockholm, Sweden.; Mohnike K; Children's Hospital, Otto-Von-Guericke-University, Magdeburg, Germany.; Mortier G; Center for Human Genetics, University Hospitals Leuven and KU Leuven, Leuven, Belgium.; Nobili L; IRCCS Istituto G. Gaslini, DiNOGMI, University of Genoa, Genoa, Italy.; Pejin Z; AP-HP Necker-Enfants Malades University Hospital and Paris Cité University, and EA 7330 VIFASOM, Paris University, Paris, France.; Sessa M; Italian Association on Achondroplasia, Bari, Italy.; Sousa SB; Hospital Pediátrico de Coímbra, Unidade Local de Saúde de Coímbra, Coimbra, Portugal.

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

Oliveira D; Medical Genetics Department, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal; Faculty of Medicine, University of Coimbra, Portugal; Clinical Academic Center of Coimbra, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal. Electronic address: danielaoliveira@ulscoimbra.min-saude.pt.; Almeida PM; Medical Genetics Department, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.; Franco S; Obstetrics Department, Maternidade Daniel de Matos, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.; Pina R; Surgical Pathology Department, Hospital da Universidade de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.; Cerqueira R; Unilabs Genetics, Porto, Portugal.; Modamio-Hoybjor S; Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, UAM, Madrid, Spain; Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain.; Heath KE; Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, UAM, Madrid, Spain; Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain; CIBERER, ISCIII, Madrid, Spain.; Sousa SB; Medical Genetics Department, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal; Faculty of Medicine, University of Coimbra, Portugal; Clinical Academic Center of Coimbra, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal. Electronic address: sbsousa@ulscoimbra.min-saude.pt.; Ramos F; Medical Genetics Department, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal; Prenatal Diagnosis Centre, Maternidade Bissaya Barreto, Unidade Local de Saúde de Coimbra, Coimbra, Portugal. Electronic address: fabiana.ramos@ulscoimbra.min-saude.pt.

Publisher: Elsevier Science Country of Publication: United States NLM ID: 8504048 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2763 (Electronic) Linking ISSN: 18732763 NLM ISO Abbreviation: Bone Subsets: MEDLINE

Guillen-Navarro E; Department of Pediatrics and Medical Genetics Section, Virgen de la Arrixaca University Hospital, IMIB-Pascual Parrilla, University of Murcia, Murcia, Spain. guillen.encarna@gmail.com.; CIBERER-ISCIII, Madrid, Spain. guillen.encarna@gmail.com.; AlSayed M; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; Faculty of Medicine, Alfaisal University, Riyadh, Kingdom of Saudi Arabia.; Alves I; Comprehensive Health Research Centre, School of Health and Human Development, University of Évora, Évora, Portugal.; Ben-Omran T; Division of Genetics and Genomic Medicine, Sidra Medicine and Hamad Medical Corporation, Doha, Qatar.; Boero S; Istituto Giannina Gaslini, Genoa, Italy.; Cormier-Daire V; Hôpital Necker, Paris, France.; Fauroux B; Pediatric Non-Invasive Ventilation and Sleep Unit, AP-HP, Necker Enfants Malades University Hospital and EA7330 VIFASOM Paris University, Paris, France.; Fredwall S; TRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, Nesodden, Norway.; Irving M; Guy's and St Thomas' NHS Foundation Trust, London, UK.; Kunkel P; Department of Neurological Surgery, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Lampe C; Clinic of Child and Youth Medicine, University Hospital Mannheim, Mannheim, Germany.; Lausch E; Section of Pediatric Genetics, Medical Center, University of Freiburg, Freiberg, Germany.; Maghnie M; Department of Pediatrics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, 16147, Genoa, Italy.; Mohnike K; Children's Hospital, Otto-von-Guericke-University Magdeburg, Magdeburg, Germany.; Mortier G; Center for Human Genetics, University Hospital Leuven and KU Leuven, Leuven, Belgium.; Pejin Z; Hôpital Necker, Paris, France.; Sessa M; Patient Advocate, AISAC, Milano, Italy.; Sousa SB; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; Faculty of Medicine, University Clinic of Genetics, Universidade de Coimbra, Coimbra, Portugal.

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

Hoover-Fong J; Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, 733 N. Broadway Suite 579, Baltimore, MD, 21205, USA. jhoover2@jhmi.edu.; Semler O; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Barron B; Institute for Clinical and Translational Research, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Collett-Solberg PF; Universidade Do Estado Do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.; Fung E; Division of Hematology, Department of Pediatrics, UCSF Benioff Children's Hospital, Oakland, CA, USA.; Irving M; Guy's and St. Thomas' NHS Foundation Trust, Evelina Children's Hospital, London, UK.; Kitaoka T; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.; Koerner C; Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, 733 N. Broadway Suite 579, Baltimore, MD, 21205, USA.; Okada K; Department of Orthopedic Surgery, The University of Tokyo Hospital, Tokyo, Japan.; Palm K; Department of Pediatrics, University Hospital Otto von Guericke University, Magdeburg, Germany.; Sousa SB; Unidade Local de Saúde de Coimbra, Hospital Pediátrico, Coimbra, Portugal.; Mohnike K; Department of Pediatrics, University Hospital Otto von Guericke University, Magdeburg, Germany.

Publisher: Health Communications Inc Country of Publication: United States NLM ID: 8611864 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1865-8652 (Electronic) Linking ISSN: 0741238X NLM ISO Abbreviation: Adv Ther Subsets: MEDLINE

Nmezi B; Dept of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.; Rodriguez Bey G; Dept of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.; Oranburg TD; Dept of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.; Dudnyk K; Lyda Hill Department of Bioinformatics, University of Texas Southwestern Medical Center, Dallas, TX, USA.; Lardo SM; Dept. of Biological Sciences, University of Pittsburgh, Pittsburgh, PA, USA.; Herdman N; Dept of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.; Jacko A; Dept of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.; Rubio S; Dept of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.; Loeza-Alcocer E; Dept. of Neurobiology, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.; Kofler J; Dept. of Neuropathology, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.; Kim D; Institute for Myelin and Glia Exploration, Department of Biochemistry, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY, USA.; Epitor Therapeutics, New York, NY, USA.; Rankin J; Dept. of Clinical Genetics, Royal Devon University Hospital, Exeter, UK.; Kivuva E; Dept. of Clinical Genetics, Royal Devon University Hospital, Exeter, UK.; Gutowski N; Dept. of Neurology, Royal Devon University Hospital, Exeter, UK.; Schon K; Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; van den Ameele J; Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.; Chinnery PF; Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.; Sousa SB; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; University Clinic of Genetics, Faculty of Medicine, Universidade de Coimbra, Coimbra, Portugal.; Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal.; Palavra F; Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal.; Center for Child Development-Neuropediatrics Unit, Hospital Pediátrico, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal.; Laboratory of Pharmacology and Experimental Therapeutics, Coimbra Institute for Clinical and Biomedical Research (iCBR), Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; Toro C; NIH Undiagnosed Diseases Program, National Human Genome Institute, National Institutes of Health, Bethesda, MD, USA.; Pinto E Vairo F; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Saute J; Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.; Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Pan L; Dept of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.; Alturkustani M; Department of Pathology, King Abdulaziz University, Jeddah, Saudi Arabia.; Hammond R; Departments of Pathology and Clinical Neurological Sciences, Western University and London Health Sciences Centre, Quebec City, Canada.; Gros-Louis F; Department of Surgery, Faculty of Medicine, Laval University, Quebec City, QC, Canada.; Division of Regenerative Medicine, CHU de Quebec research center, Laval University, Quebec City, QC, Canada.; Gold MS; Dept. of Neurobiology, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.; Park Y; Institute for Myelin and Glia Exploration, Department of Biochemistry, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY, USA.; Bernard G; Department of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, QC, Canada.; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Raininko R; Department of Radiology, Uppsala University, Uppsala, Sweden.; Zhou J; Lyda Hill Department of Bioinformatics, University of Texas Southwestern Medical Center, Dallas, TX, USA.; Hainer SJ; Dept. of Biological Sciences, University of Pittsburgh, Pittsburgh, PA, USA.; Padiath QS; Dept of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA. qpadiath@pitt.edu.; Dept. of Neurobiology, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA. qpadiath@pitt.edu.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Awamleh, Zain; Choufani, Sanaa; Cytrynbaum, Cheryl; Alkuraya, Fowzan S; Scherer, Stephen; Fernandes, Sofia; Rosas, Catarina; Louro, Pedro; Dias, Patricia; Neves, Mariana Tomásio; Sousa, Sérgio B; Weksberg, Rosanna

Human Molecular Genetics; May2023, Vol. 32 Issue 9, p1429-1438, 10p

Deb W; Besnard T; Desprez F; Cogné B; Do Souto Ferreira L; Vignard V; Marouillat S; Januel L; Gorokhova S; Busa T; Morel V; Dauriat B; Desportes V; Slavotinek AM; An Y; Lee H; Hary J; Kannu P; Athey TB; van de Laar IMBH; van Slegtenhorst MA; Dickson P; Muir AM; Buchert R; Haack TB; Imort D; Sousa SB; Xavier B; Almeida PM; Rogac M; Peterlin B; Kaspar S; Netzer C; Zempel H; Towne MC; Ladda RL; Sell SS; Gawlinski P; Song X; Wiszniewski W; Calame DG; Posey JE; Ebstein F; Lupski JR; Isidor B; Bézieau S; Laumonnier F; Küry S

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Rots D; Jakub TE; Keung C; Jackson A; Banka S; Pfundt R; de Vries BBA; van Jaarsveld RH; Hopman SMJ; van Binsbergen E; Valenzuela I; Hempel M; Bierhals T; Kortüm F; Lecoquierre F; Goldenberg A; Hertz JM; Andersen CB; Kibæk M; Prijoles EJ; Stevenson RE; Everman DB; Patterson WG; Meng L; Gijavanekar C; De Dios K; Lakhani S; Levy T; Wagner M; Wieczorek D; Benke PJ; Lopez Garcia MS; Perrier R; Sousa SB; Almeida PM; Simões MJ; Isidor B; Deb W; Schmanski AA; Abdul-Rahman O; Philippe C; Bruel AL; Faivre L; Vitobello A; Thauvin C; Smits JJ; Garavelli L; Caraffi SG; Peluso F; Davis-Keppen L; Platt D; Royer E; Leeuwen L; Sinnema M; Stegmann APA; Stumpel CTRM; Tiller GE; Bosch DGM; Potgieter ST; Joss S; Splitt M; Holden S; Prapa M; Foulds N; Douzgou S; Puura K; Waltes R; Chiocchetti AG; Freitag CM; Satterstrom FK; De Rubeis S; Buxbaum J; Gelb BD; Branko A; Kushima I; Howe J; Scherer SW; Arado A; Baldo C; Patat O; Bénédicte D; Lopergolo D; Santorelli FM; Haack TB; Dufke A; Bertrand M; Falb RJ; Rieß A; Krieg P; Spranger S; Bedeschi MF; Iascone M; Josephi-Taylor S; Roscioli T; Buckley MF; Liebelt J; Dagli AI; Aten E; Hurst ACE; Hicks A; Suri M; Aliu E; Naik S; Sidlow R; Coursimault J; Nicolas G; Küpper H; Petit F; Ibrahim V; Top D; Di Cara F; Louie RJ; Stolerman E; Brunner HG; Vissers LELM; Kramer JM; Kleefstra T

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE; In Process

Sarli C; Department of Translational Medicine, Federico II University of Naples, Naples, Italy.; van der Laan L; Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Reilly J; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.; Trajkova S; Department of Medical Sciences, University of Torino, Turin, Italy.; Molecular Biotechnology Center 'Guido Tarone', University of Turin, Turin, Italy.; Carli D; Department of Medical Sciences, University of Torino, Turin, Italy.; Brusco A; Department of Medical Sciences, University of Torino, Turin, Italy.; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy.; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin, Italy.; Levy MA; Verspeeten Clinical Genome Centre, London Health Science Centre, London, Ontario, Canada.; Relator R; Verspeeten Clinical Genome Centre, London Health Science Centre, London, Ontario, Canada.; Kerkhof J; Verspeeten Clinical Genome Centre, London Health Science Centre, London, Ontario, Canada.; McConkey H; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.; Verspeeten Clinical Genome Centre, London Health Science Centre, London, Ontario, Canada.; Tedder ML; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Skinner C; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Alders M; Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Henneman P; Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Hennekam RCM; Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Ciaccio C; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; D'Arrigo S; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Vitobello A; Department of Genetics, UNICAEN, Caen University Hospital, Normandy University, Caen, France.; Faivre L; Université de Bourgogne, Inserm U1231, Equipe GAD, Dijon, France.; CHU Dijon Bourgogne, Centre de Génétique, Centre de Référence Maladies Rares 'Anomalies du Développement et Syndromes Malformatifs', FHU-TRANSLDAD, Dijon, France.; Weber S; Service de Génétique, CHU de Caen-Normandie, Caen, France.; Service de Neurologie, CHU de Caen-Normandie, Caen, France.; Vincent-Devulder A; Department of Genetics, UNICAEN, Caen University Hospital, Normandy University, Caen, France.; Perrin L; Department of Genetics, UNICAEN, Caen University Hospital, Normandy University, Caen, France.; Bourgois A; Department of Genetics, UNICAEN, Caen University Hospital, Normandy University, Caen, France.; Yamamoto T; Division of Gene Medicine, Graduate School of Medical Science, Tokyo Women's Medical University, Tokyo, Japan.; Metcalfe K; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University Foundation NHS Trust, Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; Zollino M; Institute of Genomic Medicine, Department of Life Sciences and Public Health, 'Sacro Cuore' Catholic University of Rome, Rome, Italy.; Medical Genetics Unit, Foundation IRCCS AOU Policlinico 'A. Gemelli', Rome, Italy.; Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Oliveira D; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; Sousa SB; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; Williams D; Department of Clinical Genetics, Birmingham Women's & Children's NHS Foundation Trust, Birmingham, UK.; Cappuccio G; Department of Translational Medicine, Federico II University of Naples, Naples, Italy.; Sadikovic B; Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.; Verspeeten Clinical Genome Centre, London Health Science Centre, London, Ontario, Canada.; Brunetti-Pierri N; Department of Translational Medicine, Federico II University of Naples, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

Fredwall S; Sunnaas Rehabilitation Hospital, TRS National Resource Centre for Rare Disorders, Nesodden, Norway. svfred@sunnaas.no.; AlSayed M; Department of Medical Genomics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; Faculty of Medicine, Alfaisal University, Riyadh, Kingdom of Saudi Arabia.; Ben-Omran T; Division of Genetics and Genomic Medicine, Sidra Medicine and Hamad Medical Corporation, Doha, Qatar.; Boero S; Istituto Giannina Gaslini, Genoa, Italy.; Cormier-Daire V; Paris Descartes University, Paris, France.; Fauroux B; Necker University Hospital and Paris Cité University, Paris, France.; Guillén-Navarro E; Medical Genetics Division and Pediatrics Department, Virgen de la Arrixaca University Hospital, IMIB-Pascual Parrilla, University of Murcia, Murcia, Spain.; CIBERER-ISCIII, Madrid, Spain.; Innig F; BKMF e.V., Leinestraße 2, 28199, Bremen, Germany.; Kunkel P; University Medical Centre Mannheim, Mannheim, Germany.; Lampe C; Clinic of Child and Youth Medicine, University Hospital Mannheim, Mannheim, Germany.; Maghnie M; Paediatric Endocrinology Unit, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147, Genoa, Italy.; Mohnike K; Children's Hospital, Otto-von-Guericke-University, Magdeburg, Germany.; Mortier G; Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Pejin Z; Hôpital Necker, Paris, France.; Sessa M; Italian Association on Achondroplasia, Milan, Italy.; Sousa SB; Medical Genetics Department, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.; Clinical Academic Center of Coimbra, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.; University Clinic of Genetics, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; ERN-BOND, Bologna, Italy.; Irving M; Guy's and St Thomas' NHS Foundation Trust, London, UK.

Publisher: Health Communications Inc Country of Publication: United States NLM ID: 8611864 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1865-8652 (Electronic) Linking ISSN: 0741238X NLM ISO Abbreviation: Adv Ther Subsets: MEDLINE

Sentchordi-Montané L; Department of Pediatrics, Hospital Universitario Infanta Leonor, Madrid, Spain.; Department of Public Maternal and Child Health Department, Faculty of Medicine, Universidad Complutense de Madrid, Madrid, Spain.; Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, UAM, Hospital Universitario la Paz, Madrid, Spain.; Díaz-Gonzalez F; Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, UAM, Hospital Universitario la Paz, Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE, ERN-BOND), Hospital Universitario La Paz, Madrid, Spain.; Modamio-Høybjør S; Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, UAM, Hospital Universitario la Paz, Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE, ERN-BOND), Hospital Universitario La Paz, Madrid, Spain.; Nevado J; Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, UAM, Hospital Universitario la Paz, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.; Machado-Fernandes F; Instituto Português de Oncologia do Porto, Porto, Portugal.; Carcavilla A; Skeletal Dysplasia Multidisciplinary Unit (UMDE, ERN-BOND), Hospital Universitario La Paz, Madrid, Spain.; Department of Pediatric Endocrinology, Hospital Universitario La Paz, Madrid, Spain.; Salcedo M; Skeletal Dysplasia Multidisciplinary Unit (UMDE, ERN-BOND), Hospital Universitario La Paz, Madrid, Spain.; Department of Pediatric Orthopedics & Traumatology, Hospital Universitario La Paz, Madrid, Spain.; Saraiva J; Unit of Medical Genetics (ERN-BOND), Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; University Clinic of Genetics, Faculty of Medicine, Universidade de Coimbra, Coimbra, Portugal.; Kant SG; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; de Bruin C; Laboratory for Diagnostic Genome analysis (LDGA), Department of Clinical Genetics, LUMC, Leiden, The Netherlands.; van Duyvenvoorde HA; Laboratory for Diagnostic Genome analysis (LDGA), Department of Clinical Genetics, LUMC, Leiden, The Netherlands.; González-Cabaleiro I; Department of Pediatrics, Hospital Alvaro Cunqueiro, Vigo, Spain.; Rey-Cordo L; Department of Pediatrics, Complejo Hospitalario Universitario de Vigo, Vigo, Spain.; Chamorro-Martín JL; Department of Pediatrics, Complejo Hospitalario Universitario de Vigo, Vigo, Spain.; Cancela-Muñiz V; Department of Pediatrics, Hospital Universitario de Donosti, San Sebastián, Spain.; Alcón-Sáez JJ; Department of Pediatrics, Consorcio Hospital General Universitario de Valencia, Valencia, Spain.; Department of Pediatrics, Obstetrics and Gynecology, Faculty of Medicine, Universitat de Valencia, Valencia, Spain.; Parrón-Pajares M; Skeletal Dysplasia Multidisciplinary Unit (UMDE, ERN-BOND), Hospital Universitario La Paz, Madrid, Spain.; Department of Pediatric Radiology, Hospital Universitario La Paz, Madrid, Spain.; Sousa SB; Unit of Medical Genetics (ERN-BOND), Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; University Clinic of Genetics, Faculty of Medicine, Universidade de Coimbra, Coimbra, Portugal.; Heath KE; Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, UAM, Hospital Universitario la Paz, Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE, ERN-BOND), Hospital Universitario La Paz, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.

Publisher: Blackwell Publishing Country of Publication: England NLM ID: 0346653 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2265 (Electronic) Linking ISSN: 03000664 NLM ISO Abbreviation: Clin Endocrinol (Oxf) Subsets: MEDLINE

Rua IB; Pediatric Endocrinology, Diabetes and Growth Department, Bone Dysplasia Multidisciplinary Team (ERN-BOND), Pediatric Hospital, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.; Silva I; Medical Genetics Department, Bone Dysplasia Multidisciplinary Team (ERN-BOND), Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.; Beger C; Growth Network CrescNet, Medical Faculty, Leipzig University, Leipzig, Germany.; German Center for Child and Adolescent Health (DZKJ), Partner Site Leipzig/Dresden, Leipzig, Germany.; Gomes C; Pediatric Endocrinology, Diabetes and Growth Department, Bone Dysplasia Multidisciplinary Team (ERN-BOND), Pediatric Hospital, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.; Pais MJ; Pediatric Endocrinology, Diabetes and Growth Department, Bone Dysplasia Multidisciplinary Team (ERN-BOND), Pediatric Hospital, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.; Mirante A; Pediatric Endocrinology, Diabetes and Growth Department, Bone Dysplasia Multidisciplinary Team (ERN-BOND), Pediatric Hospital, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal. a.mirante@ulscoimbra.min-saude.pt.; Sousa SB; Medical Genetics Department, Bone Dysplasia Multidisciplinary Team (ERN-BOND), Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal. sbsousa@ulscoimbra.min-saude.pt.; Clinical Academic Center of Coimbra, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal. sbsousa@ulscoimbra.min-saude.pt.; University Clinic of Genetics, Faculty of Medicine, Universidade de Coimbra, Coimbra, Portugal. sbsousa@ulscoimbra.min-saude.pt.

Publisher: Health Communications Inc Country of Publication: United States NLM ID: 8611864 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1865-8652 (Electronic) Linking ISSN: 0741238X NLM ISO Abbreviation: Adv Ther Subsets: MEDLINE

Sousa, Sérgio B; Jenkins, Dagan; Chanudet, Estelle; Tasseva, Guergana; Ishida, Miho; Anderson, Glenn; Docker, James; Ryten, Mina; Sa, Joaquim; Saraiva, Jorge M; Barnicoat, Angela; Scott, Richard; Calder, Alistair; Wattanasirichaigoon, Duangrurdee; Chrzanowska, Krystyna; Simandlová, Martina; Van Maldergem, Lionel; Stanier, Philip; Beales, Philip L; Vance, Jean E

Nature Genetics. Jan2014, Vol. 46 Issue 1, p70-76. 7p.

Van Houdt, Jeroen K J; Nowakowska, Beata Anna; Sousa, Sérgio B; van Schaik, Barbera D C; Seuntjens, Eve; Avonce, Nelson; Sifrim, Alejandro; Abdul-Rahman, Omar A; van den Boogaard, Marie-José H; Bottani, Armand; Castori, Marco; Cormier-Daire, Valérie; Deardorff, Matthew A; Filges, Isabel; Fryer, Alan; Fryns, Jean-Pierre; Gana, Simone; Garavelli, Livia; Gillessen-Kaesbach, Gabriele; Hall, Bryan D

Nature Genetics. Apr2012, Vol. 44 Issue 4, p445-449. 5p. 1 Color Photograph, 1 Diagram, 2 Charts.

Semler O; Faculty of Medicine, Center for Rare Diseases, University Hospital Cologne, University of Cologne, Cologne, Germany. joerg.semler@uk-koeln.de.; Cormier-Daire V; Centre of Reference for Constitutional Bone Diseases (MOC), Department of Clinical Genetics, Paris Centre University, INSERM UMR 1163, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.; Lausch E; Pediatric Genetics, Center for Pediatric and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany.; Bober MB; Nemours Skeletal Dysplasia Program, Nemours Children's Hospital, Delaware, Wilmington, DE, USA.; Carroll R; Nemours Skeletal Dysplasia Program, Nemours Children's Hospital, Delaware, Wilmington, DE, USA.; Sousa SB; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; University Clinic of Genetics, Faculty of Medicine, Universidade de Coimbra, Coimbra, Portugal.; Deyle D; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Faden M; Medical Genetic Unit, Children's Hospital, King Saud Medical City, Riyadh, Saudi Arabia.; Hartmann G; Vienna Bone and Growth Center, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.; Huser AJ; Paley Advanced Limb Lengthening Institute, West Palm Beach, FL, USA.; Legare JM; Department of Pediatrics, School of Medicine and Public Health, University of Wisconsin, Madison, WI, USA.; Mohnike K; Universitätskinderklinik, Otto-Von-Guericke Universität, Magdeburg, Germany.; Rohrer TR; Department of General Pediatrics and Neonatology, Saarland University Medical Centre, Homburg, Germany.; Rutsch F; Department of General Pediatrics, Münster University Children's Hospital, Münster, Germany.; Smith P; Division of Endocrinology, Phoenix Children's Hospital, Phoenix, AZ, USA.; Travessa AM; Department of Medical Genetics, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.; Verardo A; Division of Pediatric Endocrinology, Children's Hospital of New Jersey at Newark Beth Israel Medical Center, Newark, NJ, USA.; White KK; Children's Hospital Colorado, Aurora, CO, USA.; Wilcox WR; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.; Hoover-Fong J; Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.

Publisher: Health Communications Inc Country of Publication: United States NLM ID: 8611864 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1865-8652 (Electronic) Linking ISSN: 0741238X NLM ISO Abbreviation: Adv Ther

Gomes, Tiago Fernandes; Kieselová, Katarina; Santiago, Felicidade; Cardoso, José C.; Cunha, Fernanda; Sousa, Sérgio B; Perez de Nanclares, Guiomar

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Irving M; Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK. Melita.Irving@gstt.nhs.uk.; AlSayed M; Department of Medical Genomics, King Faisal Specialist Hospital and Research Center and Faculty of Medicine, Alfaisal University, Riyadh, Kingdom of Saudi Arabia.; Arundel P; Department of Metabolic Bone Disease, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Baujat G; Centre of Reference for Constitutional Bone Diseases (MOC), Department of Clinical Genetics, Paris Centre University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.; Ben-Omran T; Division of Genetics and Genomic Medicine, Sidra Medicine & Hamad Medical Corporation, Doha, Qatar.; Boero S; Pediatric Orthopaedic and Traumatology Unit, Istituto Giannina Gaslini, Genoa, Italy.; Cormier-Daire V; Centre of Reference for Constitutional Bone Diseases (MOC), Department of Clinical Genetics, Paris Centre University, INSERM UMR 1163, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.; Fredwall S; TRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, Nesodden, Norway.; Guillen-Navarro E; Medical Genetics Section, Department of Pediatrics, Virgen de la Arrixaca University Clinical Hospital, IMIB-Pascual Parrilla, University of Murcia-UMU, Murcia; CIBERER-ISCIII, Madrid, Spain.; Hoyer-Kuhn H; Children's Hospital, University Cologne, Cologne, Germany.; Kunkel P; Department of Neurosurgery, University Medical Centre Mannheim, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.; Lampe C; Clinic of Neuropediatrics, Epileptology and Social Pediatrics, University Hospital Giessen and Marburg, Giessen, Germany.; Maghnie M; Department of Pediatrics, IRCCS Istituto Giannina Gaslini, Genova, 16147, Italy.; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, 16147, Italy.; Mohnike K; Central German Competence Network for Rare Diseases (ZSE), Universitätskinderklinik, Otto-von-Guericke Universität, Magdeburg, Germany.; Mortier G; Department of Medical Genetics and Centre for Rare Diseases, Centre of Human Genetics, KU Leuven, Leuven, Belgium.; Sousa SB; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra; and University Clinic of Genetics, Faculty of Medicine, Universidade de Coimbra, Coimbra, Portugal.

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

Díaz-González F; Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario la Paz, UMA, Madrid, Spain.; Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario la Paz, Madrid, Spain.; European Research Network on Rare BONe Disorders (ERN-BOND).; Parrón-Pajares M; Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario la Paz, Madrid, Spain.; European Research Network on Rare BONe Disorders (ERN-BOND).; Department of Radiology, Hospital Universitario La Paz, Madrid, Spain.; Lucas-Castro E; Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario la Paz, UMA, Madrid, Spain.; Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario la Paz, Madrid, Spain.; European Research Network on Rare BONe Disorders (ERN-BOND).; Modamio-Høybjør S; Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario la Paz, UMA, Madrid, Spain.; Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario la Paz, Madrid, Spain.; European Research Network on Rare BONe Disorders (ERN-BOND).; Sentchordi-Montané L; Department of Pediatrics, Hospital Universitario Infanta Leonor, Madrid, Spain.; Department of Pediatrics, Universidad Complutense, Madrid, Spain.; Seidel V; Clinical Genetics Section, Department of Pediatrics, Hospital Universitario Gregorio Marañón, Madrid, Spain.; Prieto P; Department of Pediatrics, Hospital Universitario Clínico Salamanca and Biomedical Research Institute of Salamanca (IBSAL), Salamanca, Spain.; Tarraso-Urios G; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medical Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Codina-Sola M; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medical Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Cueto-González AM; European Research Network on Rare BONe Disorders (ERN-BOND).; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medical Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Ballesta-Martínez MJ; European Research Network on Rare BONe Disorders (ERN-BOND).; Medical Genetics Section, Department of Pediatrics, Hospital Universitario Virgen de la Arrixaca, IMIB, Murcia, Spain.; CIBERER, ISCIII, Madrid, Spain.; Santos-Simarro F; Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario la Paz, UMA, Madrid, Spain.; Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario la Paz, Madrid, Spain.; European Research Network on Rare BONe Disorders (ERN-BOND).; CIBERER, ISCIII, Madrid, Spain.; Department of Molecular diagnostics & Clinical Genetics, Hospital Universitario Son Espases, Palma, Mallorca, Spain.; Sousa SB; European Research Network on Rare BONe Disorders (ERN-BOND).; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar & Universitário de Coimbra, Coimbra, Portugal.; Heath KE; Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario la Paz, UMA, Madrid, Spain.; Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario la Paz, Madrid, Spain.; European Research Network on Rare BONe Disorders (ERN-BOND).; CIBERER, ISCIII, Madrid, Spain.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Carminho Amaro Rodrigues, Maria Teresa; Steel, Dora; Sousa, Sergio B; Brandt, Gregor; Guipponi, Michel; Laurent, Sacha; Fokstuen, Siv; Moren, Aurea; Zacharia, André-Valery; Dirren, Elisabeth; Oliveira, Renata; Kurian, Manju A; Burkhard, Pierre; Bally, Julien

American Journal of Medical Genetics. A, Vol. 182, No 9 (2020) pp. 2129-2132