부산대학교 도서관

Laura Mickiewicz; Rana Zahreddine; Kévin Cormier; Sophie Peries; Arnaud Del Bello; Muriel Laffargue; Natalia F. Smirnova

Frontiers in Transplantation, Vol 3 (2024)

Morgane Davezac; Rana Zahreddine; Melissa Buscato; Natalia F. Smirnova; Chanaelle Febrissy; Henrik Laurell; Silveric Gilardi-Bresson; Marine Adlanmerini; Philippe Liere; Gilles Flouriot; Rachida Guennoun; Muriel Laffargue; Jean-Michel Foidart; Françoise Lenfant; Jean-François Arnal; Raphaël Métivier; Coralie Fontaine

JCI Insight, Vol 8, Iss 5 (2023)

Racine C; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'interrégion Est et FHU TRANSLAD, Centre Hospitalier Universitaire de Dijon Centre de Genetique, Dijon, France caroline.racine@chu-dijon.fr.; Functional Unity of Innovative Diagnosis for Rare Diseases, University of Burgundy, Dijon, France.; Denommé-Pichon AS; Functional Unity of Innovative Diagnosis for Rare Diseases, University of Burgundy, Dijon, France.; Inserm UMR1231 team GAD, University of Burgundy, Dijon, France.; Engel C; Functional Unity of Innovative Diagnosis for Rare Diseases, University of Burgundy, Dijon, France.; Tran Mau-Them F; Functional Unity of Innovative Diagnosis for Rare Diseases, University of Burgundy, Dijon, France.; Inserm UMR1231 team GAD, University of Burgundy, Dijon, France.; Bruel AL; Functional Unity of Innovative Diagnosis for Rare Diseases, University of Burgundy, Dijon, France.; Inserm UMR1231 team GAD, University of Burgundy, Dijon, France.; Vitobello A; Functional Unity of Innovative Diagnosis for Rare Diseases, University of Burgundy, Dijon, France.; Inserm UMR1231 team GAD, University of Burgundy, Dijon, France.; Safraou H; Functional Unity of Innovative Diagnosis for Rare Diseases, University of Burgundy, Dijon, France.; Inserm UMR1231 team GAD, University of Burgundy, Dijon, France.; Sorlin A; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'interrégion Est et FHU TRANSLAD, Centre Hospitalier Universitaire de Dijon Centre de Genetique, Dijon, France.; Functional Unity of Innovative Diagnosis for Rare Diseases, University of Burgundy, Dijon, France.; Nambot S; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'interrégion Est et FHU TRANSLAD, Centre Hospitalier Universitaire de Dijon Centre de Genetique, Dijon, France.; Inserm UMR1231 team GAD, University of Burgundy, Dijon, France.; Delanne J; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'interrégion Est et FHU TRANSLAD, Centre Hospitalier Universitaire de Dijon Centre de Genetique, Dijon, France.; Garde A; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'interrégion Est et FHU TRANSLAD, Centre Hospitalier Universitaire de Dijon Centre de Genetique, Dijon, France.; Colin E; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'interrégion Est et FHU TRANSLAD, Centre Hospitalier Universitaire de Dijon Centre de Genetique, Dijon, France.; Functional Unity of Innovative Diagnosis for Rare Diseases, University of Burgundy, Dijon, France.; Moutton S; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'interrégion Est et FHU TRANSLAD, Centre Hospitalier Universitaire de Dijon Centre de Genetique, Dijon, France.; Thevenon J; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'interrégion Est et FHU TRANSLAD, Centre Hospitalier Universitaire de Dijon Centre de Genetique, Dijon, France.; Jean-Marçais N; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'interrégion Est et FHU TRANSLAD, Centre Hospitalier Universitaire de Dijon Centre de Genetique, Dijon, France.; Willems M; Centre de Référence 'Anomalies du Développement syndromes malformatifs' Occitanie, Service de Génétique Médicale, Hôpital Arnaud de Villeneuve, Montpellier, France.; Geneviève D; Centre de Référence 'Anomalies du Développement syndromes malformatifs' Occitanie, Service de Génétique Médicale, Hôpital Arnaud de Villeneuve, Montpellier, France.; INSERM U1183, Université de Montpellier, Montpellier, France.; Pinson L; Centre de Référence 'Anomalies du Développement syndromes malformatifs' Occitanie, Service de Génétique Médicale, Hôpital Arnaud de Villeneuve, Montpellier, France.; Perrin L; Genetic Department, Robert-Debré Hospital Department of Genetics, Paris, France.; Laffargue F; Service de Génétique médicale, CHU Clermont-Ferrand, Clermont-Ferrand, France.; Lespinasse J; Unité de Génétique médicale, Centre Hospitalier Métropole Savoie, Chambery, France.; Lacaze E; Department of Medical Genetics, Hospital Group Le Havre, Le Havre, France.; Molin A; Service de Génétique, University Hospital Centre Caen, Caen, France.; Gerard M; Service de Génétique, University Hospital Centre Caen, Caen, France.; Lambert L; Service de Génétique Clinique, CHRU de Nancy, Nancy, France.; Benigni C; Service de Génétique Clinique, CHRU de Nancy, Nancy, France.; Patat O; Department of Medical Genetics, University Hospital Centre Toulouse, Toulouse, France.; Bourgeois V; Functional Unity of Innovative Diagnosis for Rare Diseases, University of Burgundy, Dijon, France.; Inserm UMR1231 team GAD, University of Burgundy, Dijon, France.; Poe C; Functional Unity of Innovative Diagnosis for Rare Diseases, University of Burgundy, Dijon, France.; Inserm UMR1231 team GAD, University of Burgundy, Dijon, France.; Chevarin M; Functional Unity of Innovative Diagnosis for Rare Diseases, University of Burgundy, Dijon, France.; Inserm UMR1231 team GAD, University of Burgundy, Dijon, France.; Couturier V; Functional Unity of Innovative Diagnosis for Rare Diseases, University of Burgundy, Dijon, France.; Inserm UMR1231 team GAD, University of Burgundy, Dijon, France.; Garret P; Functional Unity of Innovative Diagnosis for Rare Diseases, University of Burgundy, Dijon, France.; Inserm UMR1231 team GAD, University of Burgundy, Dijon, France.; Philippe C; Functional Unity of Innovative Diagnosis for Rare Diseases, University of Burgundy, Dijon, France.; Inserm UMR1231 team GAD, University of Burgundy, Dijon, France.; Duffourd Y; Functional Unity of Innovative Diagnosis for Rare Diseases, University of Burgundy, Dijon, France.; Inserm UMR1231 team GAD, University of Burgundy, Dijon, France.; Faivre L; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'interrégion Est et FHU TRANSLAD, Centre Hospitalier Universitaire de Dijon Centre de Genetique, Dijon, France.; Inserm UMR1231 team GAD, University of Burgundy, Dijon, France.; Thauvin-Robinet C; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'interrégion Est et FHU TRANSLAD, Centre Hospitalier Universitaire de Dijon Centre de Genetique, Dijon, France.; Inserm UMR1231 team GAD, University of Burgundy, Dijon, France.

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Lefèvre CR; Department of Biochemistry and Molecular Biology, Hospices Civils de Lyon, Bron, France.; Department of Biochemistry and Toxicology, University Hospital, Rennes, France.; Collardeau-Frachon S; Department of Pathology, Hospices Civils de Lyon and Soffoet (Société Française de Fœtopathologie), Bron, France.; Streichenberger N; Department of Pathology, Hospices Civils de Lyon - Université Claude Bernard Lyon1 - Institut NeuroMyogène CNRS UMR 5261 - INSERM U1315, France.; Berenguer-Martin S; Department of Pathology, University Hospital, Bordeaux, France.; Clémenson A; Department of Pathology, University Hospital, Saint-Etienne, France.; Massardier J; Multidisciplinary Center for Prenatal Diagnosis, Department of Obstetrics and Gynecology, Hospices Civils de Lyon, Femme Mere Enfant University Hospital, Bron, France.; Prieur F; Department of Clinical, Chromosomal and Molecular Genetics, University Hospital, Saint-Etienne, France.; Laurichesse H; Department of Gynecology, University Hospital, Clermont-Ferrand, France.; Laffargue F; Department of Genetics, University Hospital, Clermont-Ferrand, France.; Acquaviva-Bourdain C; Department of Biochemistry and Molecular Biology, Hospices Civils de Lyon, Bron, France.; Froissart R; Department of Biochemistry and Molecular Biology, Hospices Civils de Lyon, Bron, France.; Pettazzoni M; Department of Biochemistry and Molecular Biology, Hospices Civils de Lyon, Bron, France.

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

Létard P; CHU de Poitiers, Service de Génétique, Poitiers, France.; Wintjens R; Unit of Microbiology, Bioorganic and Macromolecular Chemistry, Department of Research in Drug Development (RD3), Faculté de Pharmacie, Université Libre de Bruxelles, Belgium.; Van-Gils J; Service de Génétique, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.; Martinovic J; Unité de Foetopathologie, Hôpital Antoine-Béclère, Assistance Publique-Hôpitaux de Paris, Clamart, France.; Laffargue F; Service de Génétique, Centre Hospitalier Universitaire de Clermont Ferrand, Clermont Ferrand, France.; Dufernez F; CHU de Poitiers, Service de Génétique, Poitiers, France.; Egloff M; CHU de Poitiers, Service de Génétique, Poitiers, France.; Université de Poitiers, INSERM 1084, LNEC, Poitiers, France.

Publisher: John Wiley & Sons, Ltd Country of Publication: England NLM ID: 9108340 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-0705 (Electronic) Linking ISSN: 09607692 NLM ISO Abbreviation: Ultrasound Obstet Gynecol Subsets: MEDLINE

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

Lavillaureix A; Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN-ITHACA, FHU GenOMedS, CHU de Rennes, Rennes, France; Univ Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, Rennes, France.; Rollier P; Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN-ITHACA, FHU GenOMedS, CHU de Rennes, Rennes, France; Univ Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, Rennes, France.; Kim A; Univ Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, Rennes, France; Center for Genetic Epidemiology, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA.; Panasenkava V; Univ Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, Rennes, France.; De Tayrac M; Univ Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, Rennes, France; Génétique Moléculaire et Génomique, FHU GenOMedS, CHU de Rennes, Rennes, France.; Carré W; Univ Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, Rennes, France; Génétique Moléculaire et Génomique, FHU GenOMedS, CHU de Rennes, Rennes, France.; Guyodo H; Univ Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, Rennes, France.; Faoucher M; Univ Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, Rennes, France; Génétique Moléculaire et Génomique, FHU GenOMedS, CHU de Rennes, Rennes, France.; Poirel E; Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN-ITHACA, FHU GenOMedS, CHU de Rennes, Rennes, France.; Akloul L; Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN-ITHACA, FHU GenOMedS, CHU de Rennes, Rennes, France.; Quélin C; Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN-ITHACA, FHU GenOMedS, CHU de Rennes, Rennes, France.; Whalen S; APHP, Sorbonne Université, Département de Génétique, Centre de Référence Maladies Rares des Anomalies du Développement et Syndromes Malformatifs, Hôpital Trousseau & Groupe Hospitalier Pitié-Salpêtrière, Paris, France.; Bos J; Department of Human Genetics, Section Clinical Genetic, Amsterdam University Medical Centers, Amsterdam, The Netherlands.; Broekema M; Department of Human Genetics, Section Clinical Genetic, Amsterdam University Medical Centers, Amsterdam, The Netherlands.; van Hagen JM; Department of Human Genetics, Section Clinical Genetic, Amsterdam University Medical Centers, Amsterdam, The Netherlands.; Grand K; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA.; Allen-Sharpley M; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA.; Magness E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; McLean SD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Division of Clinical Genetics, Christus Children's, San Antonio, TX.; Kayserili H; Department of Medical Genetics, Koç University School of Medicine, Istanbul, Turkey.; Altunoglu U; Department of Medical Genetics, Koç University School of Medicine, Istanbul, Turkey.; En Qi Chong A; Department of Biological Sciences, National University of Singapore, Singapore, Singapore.; Xue S; Department of Biological Sciences, National University of Singapore, Singapore, Singapore.; Jeanne M; Service de Génétique, FHU GenOMedS, CHRU de Tours, Tours, France; UMR1253, iBrain, Inserm, University of Tours, Tours, France.; Almontashiri N; Center for Genetics and Inherited Diseases (CGID), Taibah University, Madinah, Saudi Arabia.; Habhab W; Department of Genetic Medicine, Faculty of Medicine, Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.; Vanlerberghe C; CHU Lille, Clinique de Génétique Guy Fontaine, Lille, France.; Faivre L; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Centre Hospitalier Universitaire, Dijon, France; Genetics of Developmental Disorders, INSERM UMR1231, Université de Bourgogne, Dijon, France.; Viora-Dupont E; Genetics of Developmental Disorders, INSERM UMR1231, Université de Bourgogne, Dijon, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, Centre Hospitalier Universitaire, Dijon, France.; Philippe C; Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, Centre Hospitalier Universitaire, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon, Dijon, France.; Safraou H; Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, Centre Hospitalier Universitaire, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon, Dijon, France.; Laffargue F; CHU Clermont Ferrand, Service de Génétique Clinique, Clermont Ferrand, France.; Mittendorf L; Department for Children and Adolescents, University Hospital Leipzig, Leipzig, Germany.; Abou Jamra R; Institute of Human Genetics, Leipzig, Germany.; Patil SJ; Division of Genetics, Narayana Hrudayalaya Hospitals/Mazumdar Shaw Medical Centre, Bangalore, India.; Dalal A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.; Sarma AS; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.; Keren B; APHP, Sorbonne Université, Département de Génétique Médicale, GH Pitié Salpêtrière, Paris, France.; Reversade B; Laboratory of Human Genetics and Therapeutics, Genome Institute of Singapore (GIS), A∗STAR, Department of Physiology, Cardiovascular Disease, Translational Research Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore; Department of Medical Genetics, Koç University School of Medicine, Istanbul, Turkey; Laboratory of Human Genetics and Therapeutics Smart-Health Initiative, BESE, KAUST, Thuwal, Kingdom of Saudi Arabia.; Dubourg C; Univ Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, Rennes, France; Génétique Moléculaire et Génomique, FHU GenOMedS, CHU de Rennes, Rennes, France.; Odent S; Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN-ITHACA, FHU GenOMedS, CHU de Rennes, Rennes, France; Univ Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, Rennes, France.; Dupé V; Univ Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, Rennes, France. Electronic address: valerie.dupe@univ-rennes.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

Ouedraogo ZG; Service de Biochimie et Génétique Moléculaire, CHU Gabriel Montpied, CHU Clermont-Ferrand, 63000 Clermont-Ferrand, France.; Université Clermont Auvergne, CNRS, Inserm, iGReD, 63001 Clermont-Ferrand, France.; Janel C; Service de Biochimie et Génétique Moléculaire, CHU Gabriel Montpied, CHU Clermont-Ferrand, 63000 Clermont-Ferrand, France.; Janin A; Unité Fonctionnelle Cardiogénétique, Moléculaire, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, 69677 Bron, France.; CNRS UMR5261, INSERM U1315, Pathophysiology and Genetics of Neuron and Muscle, Institut Neuromyogène, Université Claude Bernard Lyon 1, 69008 Lyon, France.; Millat G; Unité Fonctionnelle Cardiogénétique, Moléculaire, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, 69677 Bron, France.; CNRS UMR5261, INSERM U1315, Pathophysiology and Genetics of Neuron and Muscle, Institut Neuromyogène, Université Claude Bernard Lyon 1, 69008 Lyon, France.; Langlais S; Service de Biochimie et Génétique Moléculaire, CHU Gabriel Montpied, CHU Clermont-Ferrand, 63000 Clermont-Ferrand, France.; Pontier B; Service de Génétique Médicale, CHU Estaing, CHU Clermont-Ferrand, 63100 Clermont-Ferrand, France.; Biard M; Service de Radiologie Pédiatrique, CHU Estaing, CHU Clermont-Ferrand, 63100 Clermont-Ferrand, France.; Lepage M; Service de Biochimie et Génétique Moléculaire, CHU Gabriel Montpied, CHU Clermont-Ferrand, 63000 Clermont-Ferrand, France.; Francannet C; Service de Génétique Médicale, CHU Estaing, CHU Clermont-Ferrand, 63100 Clermont-Ferrand, France.; Laffargue F; Service de Génétique Médicale, CHU Estaing, CHU Clermont-Ferrand, 63100 Clermont-Ferrand, France.; Creveaux I; Service de Biochimie et Génétique Moléculaire, CHU Gabriel Montpied, CHU Clermont-Ferrand, 63000 Clermont-Ferrand, France.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Sarret, C.; Khalili, B.; Pontier, B.; Laffargue, F.

In Perfectionnement en Pédiatrie October 2018 1(3):205-210

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Journal of Comparative Effectiveness Research. 9(5):341-360