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Shahsavani M; Karolinska Institutet.; Wincent J; Karolinska Institutet.; Reiter R; Johannes Kepler University of Linz.; Soltysova A; Comenius University Bratislava.; Schuy J; Karolinska Institutet.; Helgadottir HT; Karolinska Institutet.; Eisfeldt J; Karolinska University Hospital.; Ek M; Karolinska Institutet.; Ficek A; Comenius University Bratislava.; Druschke L; Karolinska Institutet.; Kusikova K; Comenius University and National Institute of Childreńs Diseases.; Hsieh TC; University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn.; Krichhoff A; University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn.; Krawitz P; University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn.; Li JM; University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn.; Webersinke G; Ordensklinikum Linz Barmherzige Schwestern.; Gorokhova S; La Timone Children Hospital, AP-HM.; Missirian C; La Timone Children Hospital, AP-HM.; Riccardi F; Aix-Marseille University.; Pavinato L; Bellinzona Institutes of Science (BIOS+).; Brusco A; Rita Levi-Montalcini, University of Torino.; Mandrile G; San Luigi University Hospital, University of Torino.; Trajkova S; Rita Levi-Montalcini, University of Torino.; Pintus F; University of Turin.; Gagachovska B; University Clinic of Psychiatry, Faculty of Medicine, Ss. Cyril and Methodius University.; Waisfisz Q; Amsterdam UMC, Vrije Universiteit Amsterdam.; van Hagen A; Amsterdam UMC, Vrije Universiteit Amsterdam.; Bedoukian E; Children's Hospital of Philadelphia.; Izumi K; Children's Hospital of Philadelphia.; Granger L; University Medical Center Utrecht.; Petersen A; University Medical Center Utrecht.; Oegema R; University Medical Center Utrecht.; Huibers M; University Medical Center Utrecht.; Demurger F; Centre hospitalier Bretagne Atlantique.; Brischoux-Boucher E; Université Marie et Louis Pasteur.; Julia S; CHU Purpan.; Banneau G; CHU Purpan.; Zavala MJ; Universidad del Desarrollo.; Lagos C; Universidad del Desarrollo.; Repetto GM; Universidad del Desarrollo.; Jouret G; Laboratoire National de Santé.; Kentros C; Columbia University.; Ganapathi M; Columbia University Irving Medical Center.; Chung WK; Harvard Medical School.; May H; Columbia University Irving Medical Center.; Hiatt SM; Huntsville, AL.; Kelley WV; Huntsville, AL.; Förster A; Hannover Medical School.; Olfe L; Hannover Medical School.; Shillington A; University of Cincinnati College of Medicine.; Dauriat B; Hôpital Mère-Enfant.; Mercier S; Centre Hospitalier Universitaire de Nantes.; Cogné B; Centre Hospitalier Universitaire de Nantes.; Engel C; Université Bourgogne Franche-Comté.; Dahlen E; Centre Hospitalier Universitaire de Besançon.; Rosenberger G; University Medical Center Hamburg-Eppendorf.; Sauvigny T; University Medical Center Hamburg-Eppendorf.; Abdallah HH; Hôpital Necker-Enfants Malades.; Courtin T; Hôpital Necker-Enfants Malades.; Stray-Pedersen A; Oslo University Hospital.; Bernat JA; University of Iowa Health Care.; Paolillo VK; Children's Mercy Hospital.; Viso FD; Children's Mercy Hospital.; Alaimo JT; Children's Mercy Hospital.; Thiffault I; Children's Mercy Hospital.; Farrow EG; Children's Mercy Hospital.; Cohen ASA; Children's Mercy Hospital.; Weis S; Johannes Kepler University of Linz.; Duba HC; Johannes Kepler University of Linz.; Nordgren A; Karolinska Institutet.; Falk A; Karolinska Institutet.; Weis D; Johannes Kepler University of Linz.; Lindstrand A; Karolinska Institutet.

Country of Publication: United States NLM ID: 101768035 Publication Model: Electronic Cited Medium: Internet ISSN: 2693-5015 (Electronic) Linking ISSN: 26935015 NLM ISO Abbreviation: Res Sq Subsets: PubMed not MEDLINE

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

Bisarad P; Departments of Child Health, Cellular & Molecular Medicine, Neurology and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, Arizona, USA.; Barrow Neurological Institute, Phoenix Children's, Phoenix, Arizona, USA.; Wang YC; Department of Genetics, School of Medicine, Washington University, St. Louis, Missouri, USA.; Skidmore PT; Departments of Child Health, Cellular & Molecular Medicine, Neurology and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, Arizona, USA.; Barrow Neurological Institute, Phoenix Children's, Phoenix, Arizona, USA.; College of Health Solutions, Arizona State University, Tempe, Arizona, USA.; Galaz-Montoya CI; Departments of Child Health, Cellular & Molecular Medicine, Neurology and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, Arizona, USA.; Barrow Neurological Institute, Phoenix Children's, Phoenix, Arizona, USA.; Lewis SA; Departments of Child Health, Cellular & Molecular Medicine, Neurology and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, Arizona, USA.; Barrow Neurological Institute, Phoenix Children's, Phoenix, Arizona, USA.; Alhaddad B; Lifera Omics, Riyadh, Saudi Arabia.; Kong N; Department of Genetics, School of Medicine, Washington University, St. Louis, Missouri, USA.; Julian D; Departments of Child Health, Cellular & Molecular Medicine, Neurology and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, Arizona, USA.; Magee H; Departments of Child Health, Cellular & Molecular Medicine, Neurology and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, Arizona, USA.; Barrow Neurological Institute, Phoenix Children's, Phoenix, Arizona, USA.; Kruer TN; Departments of Child Health, Cellular & Molecular Medicine, Neurology and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, Arizona, USA.; Xie Y; Department of Biostatistics, Yale School of Public Health, New Haven, Connecticut, USA.; Zheng W; Department of Biostatistics, Yale School of Public Health, New Haven, Connecticut, USA.; Li B; 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Skin and Stem Cell Research Center, Tehran University of Medical Sciences, Tehran, Iran.; Nezaminargabad E; Department of Cell Biology, University of Kaiserslautern-Landau, 67663 Kaiserslautern, Germany.; Vosoogh S; Clinical Research Development Unit (CRDU), Sayad Shirazi Hospital, Golestan University of Medical Sciences, Gorgan, Iran.; Jamshidi J; Neuroscience Research Australia, Sydney, New South Wales, Australia.; Arefnia S; Neonatal and Children's Health Research Center, Golestan University of Medical Sciences, Gorgan, Iran.; Hosseini SA; Neonatal and Children's Health Research Center, Golestan University of Medical Sciences, Gorgan, Iran.; Khajehmirzaei A; Dr. Khajehmirzaei Genetic Counseling Clinic, Gorgan, Iran.; Jamali F; Department of Medical Genetics and Molecular Medicine, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Ahmadifard A; Department of Biotechnology, Faculty of Medicine, Lorestan University of Medical Sciences, Khorramabad, Iran.; Khodadadi H; 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Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Morias SP; Centre for Predictive and Preventative Genetics (CGPP), Institute of Molecular and Cell Biology (IBMC), Institute for Research and Innovation in Health (i3S), University of Porto, Porto, Portugal.; Damásio J; Centre for Predictive and Preventative Genetics (CGPP), Institute of Molecular and Cell Biology (IBMC), Institute for Research and Innovation in Health (i3S), University of Porto, Porto, Portugal.; Neurology Department, Centro Hospitalar Universitário de Santo António, Unidade Local de Saúde de Santo António, Porto, Portugal.; Unit for Multidisciplinary Research in Biomedicine (UMIB), School of Medicine and Biomedical Sciences (ICBAS), University of Porto, Porto, Portugal.; Santos M; Centre for Predictive and Preventative Genetics (CGPP), Institute of Molecular and Cell Biology (IBMC), Institute for Research and Innovation in Health (i3S), University of Porto, Porto, Portugal.; Unit for Multidisciplinary Research in Biomedicine (UMIB), School of Medicine and Biomedical Sciences (ICBAS), University of Porto, Porto, Portugal.; Laboratory for Integrative and Translational Research in Population Health (ITR), Porto, Portugal.; Loureiro JL; Centre for Predictive and Preventative Genetics (CGPP), Institute of Molecular and Cell Biology (IBMC), Institute for Research and Innovation in Health (i3S), University of Porto, Porto, Portugal.; Neurology Department, Centro Hospitalar Universitário de Entre Douro e Vouga, Unidade Local de Saúde (ULS) de Entre Douro e Vouga, Santa Maria da Feira, Portugal.; Rodrigues R; Neurology Department, Centro Hospitalar Universitário de Entre Douro e Vouga, Unidade Local de Saúde (ULS) de Entre Douro e Vouga, Santa Maria da Feira, Portugal.; Stevanin G; Institute for Cognitive and Integrative Neuroscience of Aquitaine (INCIA), UMR5287, Université de Bordeaux, Centre National de la Recherche Scientifique (CNRS), Ecole Pratique des Hautes Etudes (EPHE), Bordeaux, France.; Benkirane M; 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Programs in Biomedical Informatics, Molecular & Cellular Biology, and Neuroscience, Arizona State University, Tempe, Arizona, USA.; Jin SC; Department of Genetics, School of Medicine, Washington University, St. Louis, Missouri, USA.; Department of Pediatrics, School of Medicine, Washington University, St. Louis, Missouri, USA.; Darvish H; Nikagene Genetic Diagnostic Laboratory, Gorgan, Iran.

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

Villy MC; Department of Oncogenetics, Assistance Publique - Hôpitaux de Paris (APHP), Saint-Louis Hospital, Paris, France. marie-charlotte.villy@aphp.fr.; INSERM U1339, CNRS UMR3666, DNA Repair and Uveal Melanoma Team, Institut Curie, Paris, France. marie-charlotte.villy@aphp.fr.; Drouet Y; Prevention and Public Health Department, Léon Bérard Center, Lyon, France.; Larcher L; Department of Biological Hematology, Saint-Louis Hospital, Paris, France.; INSERM U1342, Saint-Louis Research Institute and Paris Cité University, Paris, France.; Vial Y; Department of Genetics, Assistance Publique - Hôpitaux de Paris (APHP), Robert-Debré Hospital, Paris, France.; Dauriat B; Department of Medical Genetics and Cytogenetics, Limoges University Hospital, Limoges, France.; Veyrune L; Department of Medical Genetics and Cytogenetics, Limoges University Hospital, Limoges, France.; Fenwarth L; Department of Biological Hematology, Lille University Hospital, Lille, France.; Auboiroux MM; Department of Medical Genetics and Cytogenetics, Limoges University Hospital, Limoges, France.; Freiman L; Department of Clinical Hematology, Saint-Louis Hospital, Paris, France.; Nambot S; Department of Oncogenetics, Centre Georges-François Leclerc, UNICANCER, Dijon, France.; Patay L; Department of Oncogenetics, Centre Georges-François Leclerc, UNICANCER, Dijon, France.; Willems M; Department of Genetics, Montpellier University Hospital, Montpellier, France.; Lachaier E; Department of Clinical Genetics and Oncogenetics, Amiens University Hospital, Amiens, France.; Bonte B; Department of Clinical Genetics and Oncogenetics, Amiens University Hospital, Amiens, France.; Lebon D; Department of Clinical Hematology, Amiens University Hospital, Amiens, France.; Lepage M; Department of Oncogenetics, Jean Perrin Center; INSERM, U1240 Imagerie Moléculaire et Stratégies Théranostiques, Clermont Auvergne University, Clermont-Ferrand, France.; Ingster O; Department of Oncogenetics, Assistance Publique - Hôpitaux de Paris (APHP), Saint-Louis Hospital, Paris, France.; Department of Genetics, Angers University Hospital, Angers, France.; Gachard N; Hematology Laboratory, Limoges University Hospital, Limoges, France.; Cluzeau T; Department of Hematology, Nice University Hospital, Nice, France.; Loschi M; Department of Hematology, Nice University Hospital, Nice, France.; Soulier J; Department of Biological Hematology, Saint-Louis Hospital, Paris, France.; INSERM U1342, Saint-Louis Research Institute and Paris Cité University, Paris, France.; Flandrin-Gresta P; Department of Biological Hematology, Saint-Etienne University Hospital, Saint-Etienne, France.; Turlure P; Department of Medical Genetics and Cytogenetics, Limoges University Hospital, Limoges, France.; Duployez N; Department of Biological Hematology, Lille University Hospital, Lille, France.; Clappier E; Department of Biological Hematology, Saint-Louis Hospital, Paris, France.; INSERM U1342, Saint-Louis Research Institute and Paris Cité University, Paris, France.; Stoppa-Lyonnet D; Department of Genetics, Institut Curie, Paris, France.; Lasset C; Prevention and Public Health Department, Léon Bérard Center, Lyon, France.; Colas C; INSERM U1339, CNRS UMR3666, DNA Repair and Uveal Melanoma Team, Institut Curie, Paris, France.; Department of Genetics, Institut Curie, Paris, France.; Sebert M; INSERM U1342, Saint-Louis Research Institute and Paris Cité University, Paris, France. marie.sebert@aphp.fr.; Department of Clinical Hematology, Saint-Louis Hospital, Paris, France. marie.sebert@aphp.fr.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Corcia, P. ; Bakkouche, S. ; Dauriat, B. ; Beltran, S. ; Vourc’h, P.

In EMC – Neurologia November 2019 19(4):1-8

Hebrard B; Genetics Department, Henri-Mondor Hospital, AP-HP Henri-Mondor, Créteil, France.; Mondor Amyloidosis Network, Créteil, France.; Filière Nationale de Santé CARDIOGEN, Paris, France.; Association Française Des Conseillers en Génétique, Auriol, France.; Babonneau ML; Filière Nationale de Santé CARDIOGEN, Paris, France.; Charron P; Filière Nationale de Santé CARDIOGEN, Paris, France.; Genetics and Cardiology Departments, Sorbonne Université, INSERM 1166, Institute of Cardiology and ICAN Institute for Cardiometabolism and Nutrition, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne, Paris, France.; Consolino E; Filière Nationale de Santé CARDIOGEN, Paris, France.; Association Française Des Conseillers en Génétique, Auriol, France.; Genetics Department, La Timone Hospital, AP-HM, Marseille, France.; Dauriat B; Filière Nationale de Santé CARDIOGEN, Paris, France.; Medical Genetics Department, Dupuytren Hospital, Universitary-Hospital of Limoges, Limoges, France.; Dupin-Deguine D; Filière Nationale de Santé CARDIOGEN, Paris, France.; Genetics Department, Purpan Hospital, Universitary-Hospital of Toulouse, Toulouse, France.; Fargeaud D; Mondor Amyloidosis Network, Créteil, France.; Filière Nationale de Santé CARDIOGEN, Paris, France.; Cardiology Department, Pontchaillou Hospital, Universitary-Hospital of Rennes, Rennes, France.; Farrugia A; Association Française Contre L'Amylose, Marseille, France.; Giguet-Valard AG; Pierre-Zobda Quitman Hospital, Universitary-Hospital of Martinique, Fort-de-France, France.; Filière Nationale de Santé FILNEMUS, Marseille, France.; Guijarro D; Mondor Amyloidosis Network, Créteil, France.; Groupe Hospitalier Mutualiste de Grenoble, Grenoble, France.; Inamo J; Mondor Amyloidosis Network, Créteil, France.; Pierre-Zobda Quitman Hospital, Universitary-Hospital of Martinique, Fort-de-France, France.; Filière Nationale de Santé FILNEMUS, Marseille, France.; Jeanneteau J; Mondor Amyloidosis Network, Créteil, France.; Unité de Cardiologie Interventionnelle, Institut du Coeur, Clinique Saint-Joseph, Trélazé, Angers, France.; Mazzella JM; Filière Nationale de Santé CARDIOGEN, Paris, France.; Association Française Des Conseillers en Génétique, Auriol, France.; Genetics Department, La Timone Hospital, AP-HM, Marseille, France.; Michon CC; Filière Nationale de Santé CARDIOGEN, Paris, France.; Millat G; Filière Nationale de Santé CARDIOGEN, Paris, France.; UF Cardiogénétique, LBMMS, Hospices Civils de Lyon, Bron, France.; Mouquet F; UTIC, Hôpital Prive Le Bois, Lille, France.; Oghina S; Mondor Amyloidosis Network, Créteil, France.; Filière Nationale de Santé CARDIOGEN, Paris, France.; Cardiology Department, Henri-Mondor Hospital, AP-HP Henri-Mondor, Créteil, France.; Pereon Y; Filière Nationale de Santé FILNEMUS, Marseille, France.; CHU Nantes, Centre de Référence Maladies Neuromusculaires AOC, Euro-NMD, Hôtel-Dieu, Nantes, France.; Poinsignon V; Filière Nationale de Santé FILNEMUS, Marseille, France.; Molecular Genetics, Pharmacogenetic and Hormonology Department, Bicêtre Hospital, AP-HP Paris-Saclay, Kremlin-Bicêtre, France.; Pompougnac J; Mondor Amyloidosis Network, Créteil, France.; Filière Nationale de Santé CARDIOGEN, Paris, France.; Cardiology Department, Henri-Mondor Hospital, AP-HP Henri-Mondor, Créteil, France.; Proukhnitzky J; Filière Nationale de Santé CARDIOGEN, Paris, France.; Genetics and Cardiology Departments, Sorbonne Université, INSERM 1166, Institute of Cardiology and ICAN Institute for Cardiometabolism and Nutrition, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne, Paris, France.; Schaefer E; Filière Nationale de Santé CARDIOGEN, Paris, France.; Medical Genetics Department, Institut de Génétique Médicale d'Alsace, University-Hospital of Strasbourg, Strasbourg, France.; Sturtz F; Filière Nationale de Santé CARDIOGEN, Paris, France.; Molecular Biology Department, University Hospital of Limoges, Limoges, France.; Trosdorf M; Filière Nationale de Santé CARDIOGEN, Paris, France.; Auguste A; Pfizer, Paris, France.; Canali G; Pfizer, Paris, France.; Combes A; Pfizer, Paris, France.; Funalot B; Genetics Department, Henri-Mondor Hospital, AP-HP Henri-Mondor, Créteil, France.; Mondor Amyloidosis Network, Créteil, France.; Filière Nationale de Santé CARDIOGEN, Paris, France.; Université Paris Est Créteil, INSERM U955-IMRB, Créteil, France.; Damy T; Mondor Amyloidosis Network, Créteil, France. thibaud.damy@aphp.fr.; Filière Nationale de Santé CARDIOGEN, Paris, France. thibaud.damy@aphp.fr.; Cardiology Department, Henri-Mondor Hospital, AP-HP Henri-Mondor, Créteil, France. thibaud.damy@aphp.fr.; Université Paris Est Créteil, INSERM U955-IMRB, Créteil, France. thibaud.damy@aphp.fr.

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

Salardaine, Q.; Marquet, V.; Bourthoumieu, S.; Dauriat, B.; Dobrescu, A.; Yardin, C.

Morphologie. 103:116-121

Massier M; Department of Genetics, Reims University Hospital, Reims, France.; Doco-Fenzy M; Department of Genetics, Reims University Hospital, Reims, France.; Department of Genetics, Nantes University Hospital, Nantes, France.; Egloff M; Department of Genetics, Poitiers University Hospital, Poitiers, France.; University of Poitiers, INSERM, LNEC, Department of Genetics, Poitiers University Hospital, Poitiers, France.; Le Guillou X; Department of Genetics, Poitiers University Hospital, Poitiers, France.; University of Poitiers, CNRS, LMA, Department of Genetics, Poitiers University Hospital, Poitiers, France.; Le Guyader G; Department of Genetics, Poitiers University Hospital, Poitiers, France.; Redon S; Department of Genetics, Brest University Hospital, Brest, France.; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France.; University of Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Benech C; University of Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Le Millier K; Department of Genetics, Brest University Hospital, Brest, France.; Uguen K; Department of Genetics, Brest University Hospital, Brest, France.; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France.; University of Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Ropars J; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France.; Sacaze E; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France.; Audebert-Bellanger S; Department of Genetics, Brest University Hospital, Brest, France.; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France.; Apetrei A; University of Normandy, UNICAEN, RU7450 BioTARGen, Caen University Hospital, Department of Genetics, Reference Center for Developmental Disorders and Malformative Syndromes, Anddi-Rares Network, Caen, France.; Molin A; University of Normandy, UNICAEN, RU7450 BioTARGen, Caen University Hospital, Department of Genetics, Reference Center for Developmental Disorders and Malformative Syndromes, Anddi-Rares Network, Caen, France.; Gruchy N; University of Normandy, UNICAEN, RU7450 BioTARGen, Caen University Hospital, Department of Genetics, Reference Center for Developmental Disorders and Malformative Syndromes, Anddi-Rares Network, Caen, France.; Vincent-Devulder A; University of Normandy, UNICAEN, RU7450 BioTARGen, Caen University Hospital, Department of Genetics, Reference Center for Developmental Disorders and Malformative Syndromes, Anddi-Rares Network, Caen, France.; Spodenkiewicz M; Department of Genetics, Le Reunion University Hospital, St-Pierre, France.; Jacquin C; Department of Genetics, Reims University Hospital, Reims, France.; Loron G; Department of Neonatal Medicine and Pediatric Intensive Care, University of Reims Champagne-Ardenne, CReSTIC, Reims University Hospital, Reims, France.; Thibaud M; Department of Pediatrics, American Memorial Hospital, Reims, France.; Delplancq G; Constitutional Genetics Unit, Versailles Hospital, Le Chesnay, France.; Brisset S; Constitutional Genetics Unit, Versailles Hospital, Le Chesnay, France.; Lesieur-Sebellin M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.; Malan V; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.; Romana S; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.; Rio M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.; Marlin S; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.; Amiel J; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.; Marquet V; Department of Cytogenetics, Clinical Genetics and Reproductive Biology, Limoges University Hospital, Limoges, France.; Dauriat B; Department of Cytogenetics, Clinical Genetics and Reproductive Biology, Limoges University Hospital, Limoges, France.; Moradkhani K; Department of Genetics, Nantes University Hospital, Nantes, France.; Mercier S; Department of Genetics, Nantes University Hospital, Nantes, France.; Isidor B; Department of Genetics, Nantes University Hospital, Nantes, France.; Arpin S; Department of Genetics, Tours University Hospital, UMR 1253, iBrain, University of Tours, Inserm, Tours, France.; Pujalte M; Department of Genetics, Hospices Civils de Lyon, Lyon, France.; Jedraszak G; Constitutional Genetic Laboratory, University Hospital of Amiens & UR4666 HEMATIM, University of Picardie Jules Verne, Amiens, France.; Pebrel-Richard C; Cytogenetic Medical Department; UIC Cytogenetics of Rare Diseases and Reproduction (GRUIC ADERGEN), Rare Diseases Reference Center (CRMR): Developmental Anomalies and Malformative Syndromes in the Auvergne Region, Clermont-Ferrand University Hospital, Clermont-Ferrand, France.; Salaun G; Cytogenetic Medical Department; UIC Cytogenetics of Rare Diseases and Reproduction (GRUIC ADERGEN), Rare Diseases Reference Center (CRMR): Developmental Anomalies and Malformative Syndromes in the Auvergne Region, Clermont-Ferrand University Hospital, Clermont-Ferrand, France.; Laffargue F; Department of Medical Genetics, UIC ADDIR (GRIUC ADERGEN), Constitutive Reference Center CLAD South-East: Developmental anomalies and malformative syndromes, Clermont-Ferrand University Hospital, Clermont-Ferrand, France.; Boudjarane J; Medical Genetics Department, Timone Enfants University Hospital, Assistance Publique des Hôpitaux de Marseille, Marseille, France.; Missirian C; Medical Genetics Department, Timone Enfants University Hospital, Assistance Publique des Hôpitaux de Marseille, Marseille, France.; Chelloug N; Department of Medical Genetics, Toulouse University Hospital, Toulouse, France.; Toutain A; Department of Genetics, Tours University Hospital, UMR 1253, iBrain, University of Tours, Inserm, Tours, France.; Chiesa J; Department of Genetics, Nimes, University Hospital, Nimes University Hospital, Nimes, France.; Keren B; Department of Genetics, APHP Sorbonne University, Paris, France.; Mignot C; Department of Genetics, APHP Sorbonne University, Paris, France.; Gouy E; Department of Genetics, Hospices Civils de Lyon, Lyon, France.; Jaillard S; Department of Cytogenetics and Cell Biology, Rennes university hospital, Rennes, France.; Landais E; Department of Genetics, Reims University Hospital, Reims, France.; Poirsier C; Department of Genetics, Reims University Hospital, Reims, France.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Clara Houdayer; A. Marie Phillips; Marie Chabbert; Jennifer Bourreau; Reza Maroofian; Henry Houlden; Kay Richards; Nebal Waill Saadi; Eliška Dad'ová; Patrick Van Bogaert; Mailys Rupin; Boris Keren; Perrine Charles; Thomas Smol; Audrey Riquet; Lynn Pais; Anne O'Donnell‐Luria; Grace E. VanNoy; Allan Bayat; Rikke S Møller; Kern Olofsson; Rami Abou Jamra; Steffen Syrbe; Majed Dasouki; Laurie H. Seaver; Jennifer A. Sullivan; Vandana Shashi; Fowzan S. Alkuraya; Alexis F. Poss; J. Edward Spence; Rhonda E. Schnur; Ian C. Forster; Chaseley E. Mckenzie; Cas Simons; Min Wang; Penny Snell; Kavitha Kothur; Michael Buckley; Tony Roscioli; Noha Elserafy; Benjamin Dauriat; Vincent Procaccio; Daniel Henrion; Guy Lenaers; Estelle Colin; Nienke E. Verbeek; Koen L. Van Gassen; Claire Legendre; Dominique Bonneau; Christopher A. Reid; Katherine B. Howell; Alban Ziegler; Christian Legros

Ann Neurol

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Journal of Heart and Lung Transplantation. 42(4):S523-S523

Tissot, Adrien; Durand, Eugénie; Goronflot, Thomas; Coiffard, Benjamin; Renaud-Picard, Benjamin; Roux, Antoine; Demant, Xavier; Mornex, Jean-François; Falque, Loïc; Salpin, Mathilde; le Pavec, J. rôme; Villeneuve, Thomas; Boussaud, V. ronique; Knoop, Christiane; Magnan, Antoine; Lair, David; Berthelot, Laureline; Danger, Richard; Brouard, Sophie; Blanchard, Elodie; Hulo, Virginie; Ruiz-Patino, Maria; Kuylen, Maarten Vander; Sokolow, Youri; Stefanidis, Constantin; Huybrechts, Isabelle; Perrin, Laurent; Taccone, Fabio; Etienne, Isabelle; Roussoulières, Anna; Hites, Maya; Lambert, Agnes; Hemelsoet, Axelle; Bedouch, Pierrick; Briault, Amandine; Falque, Loic; Perrier, Quentin; Raymond, Christel Saint; Chacaroun, Samarmar; Gioria, Yoann; Quentin, Joane; Grima, Renaud; Drevet, Gabrielle; Maury, Jean-Michel; Tronc, François; Portan, Philippe; du Vignaud, Claire Merveilleux; Chatron, Eva; Glérant, Jean Charles; Turquier, S. golène; Mohamed, Salim Si; Cottin, Vincent; Chalabresse, Lara; Dubois, Chantal; Rea, Aurélie; Reignier, M. déric; Canterini, Julia; Carlier, Nicolas; Guillemain, Romain; D’Journo, Xavier-Benoit; Thomas, Pascale-Alexandre; Trousse, Delphine; Brioude, Geoffrey; Boulate, David; Fourdrain, Alex; Bregeon, Fabienne; Delliaux, Stéphane; Reynaud-Gaubert, Martine; Coltey, B. rengère; Dufeu, Nadine; Bermudez, Julien; Nieves, Ana; Dutau, Hervé; Tronchetti, Julie; Gaubert, Jean-Yves; Habert, Paul; di Biscéglie, Mathieu; Basire, Agnes; Pedini, Pascal; Daviet, Florence; Guervilly, Christophe; Hraiech, Sami; Forel, Jean Marie; Delamarre, Louis; Charvet, Aude; Gragueb-Chatti, Ines; Mora, Pierre; Laurent, Daniel; Giusiano, Sophie; Dales, Jean-Philippe; Gaubert, M. lanie; Laine, Marc; Lacoste, Philippe; Perigaud, Christian; Roussel, Jean-Christian; Senage, Thomas; Mugniot, Antoine; Danner, Isabelle; Bry, Charlotte; Penhouet, Morgane; Eschapasse, Emmanuelle; Horeau-Langlard, Delphine; Blanc, François-Xavier; Lepoivre, Thierry; Vourch, Mickael; Bernard, Megguy; Godard, Elodie; Valéro, R. gine; Maugendre, Karine; Yeremenko, Nataliya; Foureau, Aurore; Gallot, G. raldine; Berthome, Mathilde; Dauriat, Gaëlle; Pradere, Pauline; Feuillet, S. verine; Dolidon, Samuel; Medraoui, Chahine; Gazengel, Pierre; Crutu, Adrian; Hanna, Amir; Fabre, Elie; Mercier, Olaf; Mitilian, Delphine; Issard, Justin; Fabre, Dominique; Castier, Yves; Mordant, Pierre; Cerceau, Pierre; Girault, Antoine; Roussel, Arnaud; Atchade-Thierry, Enora; Jean-Baptiste, Sylvain; Boudinet, Sandrine; Tanaka, S. bastien; Gouel, Aurélie; Montravers, Philippe; Zappella, Nathalie; Snauwaert, Aurélie; Tashk, Parvine; Lortat-Jacob, Brice; Goletto, Tiphaine; Mouren, Domitille; Morer, Lise; Mal, Hervé; Marceau, Armelle; Weisenburger, Gaëlle; Bunel, Vincent; Sandot, Adèle; el Husseini, Kinan; Halitim, Pierre; Genet, Lucie; Trigueiros, Sabrina; Savary, Alice; Rabia, Hakima; Falcoz, Pierre-Emmanuel; Olland, Anne; Ponte, Charlotte; Tacquard, Charles; Ajob, Garib; Collange, Olivier; Pons, Antoine; Delabranche, Xavier; Helms, Olivier; Roche, Anne; Kessler, Romain; Degot, Tristan; Hirschi, Sandrine; Schuller, Armelle; Dory, Anne; Toti, Florence; Benkirane-Jessel, Nadia; Kessler, Laurence; Stauder, Julien; Sage, Edouard; Parquin, Francois; de Miranda, Sandra; Picard, Clément; Brugière, Olivier; D’Urso, B. atrice; Stern, Marc; Mbarka, Akounach; Marquant, Quentin; Schwartz, Isabelle; Salvator, Helene; Pascreau, Tiffany; Dupuis, Marion; Murris-Espin, Marlène; Rabinel, Pierre; Brouchet, Laurent; Crognier, Laure; Mathe, Olivier; Legenne, Frédérique; Barthes, Myriam; Vilquin, Blandine; Costes, Anne-Laure; Recoche, Isabelle; Bergeron, Anne; Berra, Gregory; Koutsokera, Angela

Respir Res
Respiratory Research, Vol 25, Iss 1, Pp 1-14 (2024)