부산대학교 도서관

Satkin NB; Karaman B; Ergin S; Kayserili H; Kalelioglu IH; Has R; Yuksel A; Basaran S

Balkan Journal of Medical Genetics, Vol 23, Iss 2, Pp 25-34 (2021)

Rosti R; Irem A; Kayserili H; Yalcin S

Balkan Journal of Medical Genetics, Vol 12, Iss 1, Pp 61-64 (2009)

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

Altunoglu U; Medical Genetics Department, School of Medicine (KUSoM), Koç University, Istanbul, Turkey ualtunoglu@ku.edu.tr.; Medical Genetics Department, Istanbul Faculty of Medicine, Istanbul University, Fatih, Turkey.; Palencia-Campos A; Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Instituto de Investigaciones Biomédicas Alberto Sols, Madrid, Spain.; CIBER de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Güneş N; Cerrahpasa Medical Faculty, Department of Pediatric Genetics, Istanbul Universitesi-Cerrahpasa, Istanbul, Turkey.; Turgut GT; Medical Genetics Department, Istanbul Faculty of Medicine, Istanbul University, Fatih, Turkey.; Nevado J; CIBER de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Instituto de Genética Médica y Molecular (INGEMM), ITHACA-ERN, Hospital Universitario La Paz-IdiPAZ, Madrid, Spain.; Lapunzina P; CIBER de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Instituto de Genética Médica y Molecular (INGEMM), ITHACA-ERN, Hospital Universitario La Paz-IdiPAZ, Madrid, Spain.; Valencia M; Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Instituto de Investigaciones Biomédicas Alberto Sols, Madrid, Spain.; Iturrate A; Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Instituto de Investigaciones Biomédicas Alberto Sols, Madrid, Spain.; CIBER de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Otaify G; Department of Clinical Genetics, Institute of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt.; Elhossini R; Department of Clinical Genetics, Institute of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt.; Ashour A; Department of Clinical Genetics, Institute of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt.; K Amin A; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Elnahas RF; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Fernandez-Nuñez E; Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Instituto de Investigaciones Biomédicas Alberto Sols, Madrid, Spain.; Flores CL; Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Instituto de Investigaciones Biomédicas Alberto Sols, Madrid, Spain.; CIBER de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Arias P; Instituto de Genética Médica y Molecular (INGEMM), ITHACA-ERN, Hospital Universitario La Paz-IdiPAZ, Madrid, Spain.; Tenorio J; CIBER de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Instituto de Genética Médica y Molecular (INGEMM), ITHACA-ERN, Hospital Universitario La Paz-IdiPAZ, Madrid, Spain.; Chamorro Fernández CI; Sección de Cardiología, Hospital Virgen de los Lirios de Alcoy, Alicante, Spain.; Güven Y; Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey.; Özsu E; Department of Pediatric Endocrinology and Diabetes, School of Medicine, Ankara University, Ankara, Turkey.; Eklioğlu BS; Division of Pediatric Endocrinology, Department of Pediatrics, Necmettin Erbakan University, Konya, Turkey.; Ibarra-Ramirez M; Departamento de Genética, Facultad de Medicina, Universidad Autónoma de Nuevo León, Nuevo Leon, Mexico.; Diness BR; Department of Clinical Genetics, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health, University of Copenhagen, Kobenhavn, Denmark.; Burnyte B; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.; Ajmi H; Service de Pédiatrie, Centre Hôspitalier Universitaire (CHU) Sahloul, Sousse, Tunisia.; Yüksel Z; Human Genetics Department, Bioscientia Healthcare GmbH, Ingelheim, Germany.; Yıldırım R; Department of Pediatric Endocrinology, Ministry of Health Diyarbakir Children's Hospital, Diyarbakir, Turkey.; Ünal E; Department of Pediatric Endocrinology, Faculty of Medicine, Dicle University, Diyarbakir, Turkey.; Abdalla E; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Aglan M; Department of Clinical Genetics, Institute of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt.; Kayserili H; Medical Genetics Department, School of Medicine (KUSoM), Koç University, Istanbul, Turkey.; Tuysuz B; Cerrahpasa Medical Faculty, Department of Pediatric Genetics, Istanbul Universitesi-Cerrahpasa, Istanbul, Turkey.; Ruiz-Pérez V; Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Instituto de Investigaciones Biomédicas Alberto Sols, Madrid, Spain.; CIBER de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Instituto de Genética Médica y Molecular (INGEMM), ITHACA-ERN, Hospital Universitario La Paz-IdiPAZ, Madrid, Spain.

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

Lesmann H; Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany.; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Hustinx A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Moosa S; Division of Molecular Biology and Human Genetics, Stellenbosch University and Medical Genetics, Tygerberg Hospital, Stellenbosch, South Africa.; Klinkhammer H; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Institute for Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, NRW, Germany.; Marchi E; New York State Institute for Basic Research in Developmental Disabilities, New York State, Albany, New York, USA.; Caro P; Institute of Human Genetics, Heidelberg University, Heidelberg, Baden-Württemberg, Germany.; Abdelrazek IM; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt.; Pantel JT; Institute for Digitalization and General Medicine, University Hospital RWTH Aachen, Aachen, NRW, Germany.; Centre for Rare Diseases Aachen (ZSEA), University Hospital RWTH Aachen, Aachen, NRW, Germany.; Hagen MT; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Thong MK; Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia.; Binti Mazlan RA; Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia.; Tae SK; Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia.; Kamphans T; GeneTalk GmbH, Bonn, NRW, Germany.; Meiswinkel W; GeneTalk GmbH, Bonn, NRW, Germany.; Li JM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Javanmardi B; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Knaus A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Uwineza A; College of Medicine and Health Sciences, University of Rwanda, and University Teaching Hospital of Kigali, Kigali, Rwanda.; Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany.; Tkemaladze T; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia.; Givi Zhvania Pediatric Academic Clinic, Tbilisi State Medical University, Georgia.; Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany.; Mattern L; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany.; Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Velmans C; Institute of Human Genetics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, NRW, Germany.; Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Jacob M; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany.; Peron A; Medical Genetics, Meyer Children's Hospital IRCCS, Firenze, Italy.; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Università degli Studi di Firenze, Italy.; Dias C; Department of Medical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, Great Ormond Street, London, UK.; Neural Stem Cell Biology Laboratory, The Francis Crick Institute, UK.; Department of Medical & Molecular Genetics, School of Basic and Medical Biosciences, Faculty of Life Sciences & Medicine, King's College London, UK.; Nunes BC; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.; Vilella T; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.; Pinheiro IF; Genetics Unit, Instituto da Criança, Universidade de São Paulo, São Paulo, Brazil.; Kim CA; Genetics Unit, Instituto da Criança, Universidade de São Paulo, São Paulo, Brazil.; Melaragno MI; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.; Weiland H; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Kaptain S; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Chwiałkowska K; Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Bialystok, Poland.; IMAGENE.ME SA, Bialystok, Poland.; Kwasniewski M; IMAGENE.ME SA, Bialystok, Poland.; Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Bialystok, Poland.; Saad R; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, Great Ormond Street, London, UK.; Department of Genetics and Genomic Medicine, UCL Institute of Child Health, London UK.; Wiethoff S; Department of Neurology with Institute of Translational Neurology, University Hospital Münster, Münster, NRW, Germany.; Goel H; School of Medicine and Public Health, University of Newcastle, Callaghan NSW, Australia.; Tang C; Kabuki Syndrome Foundation, Northbrook, IL, USA.; Hau A; Hunter Genetics, Hunter New England Health Service, Newcastle, Australia.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Panek P; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.; Nabil A; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt.; Suh J; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany.; Braun F; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, NRW, Germany.; Gomy I; Department of Genetics, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Sao Paulo, Brazil.; Averdunk L; Department of General Pediatrics and Neonatology, University Children's Hospital, Heinrich-Heine-University, Medical Faculty, Düsseldorf, Germany.; Ekure E; Department of Paediatrics, College of Medicine, University of Lagos, Lagos, Nigeria.; Bergant G; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Peterlin B; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana.; Graziano C; Medical Genetics Unit, Ausl Romagna, Cesena, Italy.; Gaboon N; Medical Genetics Center, Faculty of Medicine, Ain Shams University, Cairo, Egypt.; Medical Genetics Department, Armed Forces College of Medicine, Cairo, Egypt.; Fiesco-Roa M; Programa de Maestría y Doctorado en Ciencias Médicas, Odontológicas y de la Salud, Universidad Nacional Autónoma de México, México City, Mexico.; Laboratorio de Citogenética, Instituto Nacional de Pediatría, México City, Mexico.; Spinelli AM; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.; Wilpert NM; NeuroCure Cluster of Excellence; Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, D-10117 Berlin, Germany.; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, D-13353 Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité Junior Clinician Scientist Program, D-10117 Berlin, German.; Phowthongkum P; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.; Division of Medical Genetics and Genomics, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Güzel N; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Bitar R; Pediatric Gastroenterology Department, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates.; Khalifa University, Abu Dhabi, United Arab Emirates.; Tzschach A; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Rodriguez-Palmero A; Paediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain.; Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany.; Rudnik-Schöneborn S; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.; Contreras-Capetillo SN; Universidad Autonoma de Yucatan (University Autonomus of Yucatan), Merida, Yucatan, Mexico.; Oberlack A; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany.; Samango-Sprouse C; Department of Pediatrics, George Washington University, 2121 I St. NW, Washington D.C. 2005.; Department of Human and Molecular Genetics, Florida International University, 11200 SW 8th Street, AHC2 Miami, Florida 22199.; Department of Research, The Focus Foundation, 820 W. Central Ave. #190, Davidsonville, MD 21035.; Sadeghin T; Department of Research, The Focus Foundation, 2772 Rutland Road P.O. Box 190, Davidsonville, MD 21035.; Olaya M; Department of Research, The Focus Foundation, 2772 Rutland Road P.O. Box 190, Davidsonville, MD 21035.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Borovikov A; Research Centre for Medical Genetics (RCMG), Moscow, Russia.; Schnabel F; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Heuft L; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Herrmann V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Elkhateeb N; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Kumar S; Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany.; Komlosi K; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Mohamed K; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt.; Kalantari S; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Sirchia F; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Medical Genetics Unit, IRCCS San Matteo Foundation, Pavia, Italy.; Martinez-Monseny AF; Department of Clinical Genetics, SJD Barcelona Children's Hospital, Esplugues del Llobregat (Barcelona), Spain.; Höller M; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Toutouna L; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Mohamed A; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt.; Lasa-Aranzasti A; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Catalunya, Spain.; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Catalunya, Spain.; Sayer JA; Biosciences Institute, Newcastle University, Central Parkway, Newcastle upon Tyne, UK.; Renal Services, The Newcastle Upon Tyne NHS Hospitals Foundation Trust, Freeman Road, Newcastle Upon Tyne, UK.; Ehmke N; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.; Danyel M; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.; Sczakiel H; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.; Schwartzmann S; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.; Boschann F; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.; Zhao M; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.; Adam R; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.; Einicke L; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.; Horn D; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.; Chew KS; Department of Paediatrics, Faculty of Medicine, University Malaya, 59100 Kuala Lumpur, Malaysia.; Kam CC; Department of Paediatrics, Faculty of Medicine, University Malaya, 59100 Kuala Lumpur, Malaysia.; Karakoyun M; Ege University, Faculty of Medicine, Department of Pediatric Gastroenterology Hepatology and Nutrition, Izmir, Turkey.; Pode-Shakked B; The Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; The faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel.; Eliyahu A; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; The Mina and Everard Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat Gan, Israel.; Rock R; Metabolic Diseases Clinic, Edmond and Lily Safra Children's Hospital, Sheba Medical Center.; National Newborn Screening Program, Public Health Services, Ministry of Health Tel-Hashomer, Israel.; Carrion T; Rare diseases Unit, Pediatric Department, Hospital Universitari Son Espases, Palma de Mallorca, Spain.; Chorin O; The Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.; Zarate YA; Department of Pediatrics, Section of Genetics and Metabolism, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, AR, USA.; Division of Genetics and Metabolism, University of Kentucky, Lexington, KY, USA.; Conti MM; Project Director AI for Health at Foundation 29, Foundation 29, Madrid, Spain.; Karakaya M; Institute of Human Genetics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, NRW, Germany.; Tung ML; University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, IA 52242, USA.; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA.; Chandra B; University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, IA 52242, USA.; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA.; Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Lumaka A; Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, DR Congo.; Wasif N; Institute of Human Genetics, University of Ulm, Ulm, Baden-Württemberg, Germany.; University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.; Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.; Blackburn PR; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.; Wang T; Department of Medical Genetics, Center for Medical Genetics, Peking University Health Science Center, Beijing 100191, China.; Neuroscience Research Institute, Peking University; Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing 100191, China.; Autism Research Center, Peking University Health Science Center, Beijing 100191, China.; Niehues T; Department of Pediatrics, Helios Klinik Krefeld, Krefeld 47805, Germany.; Schmidt A; Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany.; Roth RR; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Germany.; Wieczorek D; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Germany.; Hu P; Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, USA.; Waikel RL; Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, USA.; Ledgister Hanchard SE; Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, USA.; Elmakkawy G; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt.; Safwat S; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt.; Ebstein F; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, F-44000 Nantes, France.; Nantes Université, CHU Nantes, Service de Génétique Médicale, F-44000 Nantes, France.; Krüger E; Insitute for Medical Biochemistry and Molecular Biology, University of Greifswald, Greifswald, Greifswald, Germany.; Küry S; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, F-44000 Nantes, France.; Nantes Université, CHU Nantes, Service de Génétique Médicale, F-44000 Nantes, France.; Bézieau S; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, F-44000 Nantes, France.; Nantes Université, CHU Nantes, Service de Génétique Médicale, F-44000 Nantes, France.; Arlt A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Olinger E; Center for Human Genetics, Cliniques Universitaires Saint-Luc, Brussels, Belgium.; Marbach F; Institute of Human Genetics, Heidelberg University, Heidelberg, Baden-Württemberg, Germany.; Li D; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Dupuis L; Department to Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital of Sick Children, Toronto, Ontario, Canada.; Mendoza-Londono R; Department to Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital of Sick Children, Toronto, Ontario, Canada.; Houge SD; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.; Weis D; Institue for Medical Genetics, Kepler University Hospital, Linz, Austria.; Chung BH; Hong Kong Genome Institute, Hong Kong, China.; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China.; Mak CCY; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China.; Kayserili H; Medical Genetics Department, Koç University School of Medicine (KUSoM), 34010, Istanbul, Türkiye.; Elcioglu N; Department of Pediatric Genetics, Marmara University School of Medicine, Istanbul, Türkiye.; Aykut A; Department of Medical Genetics, Ege University Faculty of Medicine, Izmir, Türkiye.; Şimşek-Kiper PÖ; Hacettepe University Faculty of Medicine, Department of Pediatric Genetics, Ankara, Türkiye.; Bögershausen N; Institut of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Wollnik B; Institut of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany.; German Center for Cardiovascular Research (DZHK), Partner Site Göttingen, Göttingen, Germany.; Bentzen HB; Centre for Medical Ethics, Faculty of Medicine, University of Oslo, Oslo, Norway.; Cancer Registry of Norway, Norwegian Institute of Public Health, Oslo, Norway.; Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany.; Netzer C; Institute of Human Genetics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, NRW, Germany.; Jezela-Stanek A; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.; Devriendt K; Center for Human Genetics, KU Leuven, Leuven, Belgium.; Gripp KW; Division of Medical Genetics, A.I. du Pont Hospital for Children/Nemours, USA, Wilmington, Delaware, USA.; Mücke M; Institute for Digitalization and General Medicine, University Hospital RWTH Aachen, Aachen, NRW, Germany.; Centre for Rare Diseases Aachen (ZSEA), University Hospital RWTH Aachen, Aachen, NRW, Germany.; Verloes A; Department of Clinical Genetics, Robert-Debré Hospital, Paris, France.; Schaaf CP; Institute of Human Genetics, Heidelberg University, Heidelberg, Baden-Württemberg, Germany.; Nellåker C; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, Nuffield Department of Women's & Reproductive Health, University of Oxford, Oxford, UK.; Solomon BD; Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, USA.; Nöthen MM; Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany.; Abdalla E; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt.; Lyon GJ; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, United States of America.; George A. Jervis Clinic, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, United States of America.; Biology PhD Program, The Graduate Center, The City University of New York, New York, United States of America.; Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.

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

Turgut GT; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Altunoglu U; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Department of Medical Genetics, Koç University School of Medicine (KUSoM), Istanbul, Turkey.; Gulec C; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Sarac Sivrikoz T; Division of Perinatology, Department of Obstetrics and Gynecology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Kalaycı T; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Toksoy G; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Avcı Ş; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Department of Medical Genetics, Koç University School of Medicine (KUSoM), Istanbul, Turkey.; Yıldırım BT; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Sayın GY; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Kalelioglu IH; Division of Perinatology, Department of Obstetrics and Gynecology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Karaman B; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Department of Pediatric Basic Sciences, Institute of Child Health, Istanbul University, Istanbul, Turkey.; Has R; Division of Perinatology, Department of Obstetrics and Gynecology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Başaran S; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Yuksel A; Division of Perinatology, Department of Obstetrics and Gynecology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Kayserili H; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Department of Medical Genetics, Koç University School of Medicine (KUSoM), Istanbul, Turkey.; Uyguner ZO; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

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

Lacombe D; Department of Medical Genetics, University Hospital of Bordeaux, and INSERM U1211, University of Bordeaux, 33076 Bordeaux, France didier.lacombe@chu-bordeaux.fr.; Bloch-Zupan A; Faculté de Chirurgie Dentaire, Université de Strasbourg, and Centre de référence des maladies rares orales et dentaires, Hôpitaux Universitaires de Strasbourg, Strasbourg, and Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, Illkirch, France.; Bredrup C; Department of Clinical Medicine, University of Bergen, 5020 Bergen, Norway.; Cooper EB; Department of Anesthesiology, Cincinnati Children's Hospital, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Houge SD; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway and Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; García-Miñaúr S; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, Madrid, Spain.; Kayserili H; Department of Medical Genetics, Koc University School of Medicine (KUSOM), 34010 Istanbul, Turkey.; Larizza L; Laboratorio di Ricerca in Citogenetica medica e Genetica Molecolare, Centro di Ricerche e Tecnologie Biomediche IRCCS-Istituto Auxologico Italiano, Milano, Italy.; Lopez Gonzalez V; Department of Pediatrics, Medical Genetics Section, Virgen de la Arrixaca University Hospital, IMIB, CIBERER, Murcia, Spain.; Menke LA; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Milani D; Fondazione IRCCS, Ca'Granda Ospedale Maggiore, 20122 Milan, Italy.; Saettini F; Fondazione Matilde Tettamanti Menotti De Marchi Onlus, Fondazione Monza e Brianza per il Bambino e la sua Mamma, Monza, Italy.; Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA.; Tooke L; Department of Pediatrics, Groote Schuur Hospital, University of Cape Town, Cape Town, South Africa.; Van der Zee JA; Department of Pediatric Urology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Van Genderen MM; Bartiméus Diagnostic Center for complex visual disorders, Zeist and Department of Ophthalmology, University Medical Center Utrecht, Utrecht, Netherlands.; Van-Gils J; Department of Medical Genetics, University Hospital of Bordeaux, and INSERM U1211, University of Bordeaux, 33076 Bordeaux, France.; Waite J; School of Psychology, College of Health and Life Sciences, Aston University, Birmingham, UK.; Adrien JL; Université de Paris, Laboratoire de Psychopathologie et Processus de Santé, Boulogne Billancourt, France.; Bartsch O; MVZ - Humangenetik, University Medical Center, Johannes Gutenberg University Mainz, 55131 Mainz, Germany.; Bitoun P; Département de Genetique, SIDVA 91, Juvisy-sur-Orge, France.; Bouts AHM; Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Cueto-González AM; Department of Clinical and Molecular Genetics, University Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Dominguez-Garrido E; Molecular Diagnostics Laboratory, Fundacion Rioja Salud, La Rioja, Spain.; Duijkers FA; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Fergelot P; Department of Medical Genetics, University Hospital of Bordeaux, and INSERM U1211, University of Bordeaux, 33076 Bordeaux, France.; Halstead E; Psychology and Human Development Department, University College London, London, UK.; Huisman SA; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Zodiak, Prinsenstichting, Purmerend, Netherlands.; Meossi C; Fondazione IRCCS, Ca'Granda Ospedale Maggiore, 20122 Milan, Italy.; Mullins J; Rubinstein-Taybi Syndrome Support Group, Registered Charity, Rickmansworth, UK.; Nikkel SM; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Oliver C; School of Psychology, University of Birmingham, Edgbaston, UK.; Prada E; Fondazione IRCCS, Ca'Granda Ospedale Maggiore, 20122 Milan, Italy.; Rei A; Associazione Rubinstein-Taybi Syndrome-Una Vita Speciale, Organizzazione di Volontariato (ODV), Gornate Olona, Varese, Italy.; Riddle I; Division of Developmental and Behavioral Pediatrics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA.; Rodriguez-Fonseca C; Asociación Española para el Sindrome de Rubinstein-Taybi (AESRT), Madrid, Spain.; Rodríguez Pena R; Immunology, Hospital Universitario La Paz, IdiPaz, Madrid, Spain.; Russell J; Associazione Rubinstein-Taybi Syndrome-Una Vita Speciale, Organizzazione di Volontariato (ODV), Gornate Olona, Varese, Italy.; Saba A; French RTS Support Group, Paris, France.; Santos-Simarro F; Unit of Molecular Diagnostics and Clinical Genetics, Hospital Universitari Son Espases, Health Research Institute of the Balearic Islands (IdISBa), Palma, Spain.; Simpson BN; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics, Cincinnati School of Medicine, Cincinnati, Ohio, USA.; Smith DF; Department of Pediatric Otolaryngology, Cincinnati Children's Hospital Medical Center, and Department of Otolaryngology - Head and Neck Surgery, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Stevens MF; Department of Anesthesiology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Szakszon K; Institution of Pediatrics, University of Debrecen Clinical Centre, Debrecen, Hungary.; Taupiac E; Department of Medical Genetics, University Hospital of Bordeaux, and INSERM U1211, University of Bordeaux, 33076 Bordeaux, France.; Totaro N; Associazione Rubinstein-Taybi Syndrome-Una Vita Speciale, Organizzazione di Volontariato (ODV), Gornate Olona, Varese, Italy.; Valenzuena Palafoll I; Department of Clinical and Molecular Genetics, University Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Van Der Kaay DCM; Division of Paediatric Endocrinology, Department of Paediatrics, Erasmus University Medical Centre, Sophia Children's Hospital, Rotterdam, The Netherlands.; Van Wijk MP; Department of Pediatric Gastroenterology, Emma Children's Hospital, Amsterdam UMC, University Amsterdam, Amsterdam, Netherlands.; Vyshka K; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA), Robert Debré University Hospital, Paris, France.; Wiley S; Division of Developmental and Behavioral Pediatrics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA.; Hennekam RC; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.

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

Aughey G; Cali E; Maroofian R; Zaki MS; Pagnamenta AT; Rahman F; Menzies L; Shafique A; Suri M; Roze E; Aguennouz M; Ghizlane Z; Saadi SM; Ali Z; Abdulllah U; Cheema HA; Anjum MN; Morel G; McFarland R; Altunoglu U; Kraus V; Shoukier M; Murphy D; Flemming K; Yttervik H; Rhouda H; Lesca G; Murtaza BN; Rehman MU; Consortium GE; Seo GH; Beetz C; Kayserili H; Krioulie Y; Chung WK; Naz S; Maqbool S; Gleeson J; Baig SM; Efthymiou S; Taylor JC; Severino M; Jepson JE; Houlden H

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

Oztunc F; Cerrahpasa Medical Faculty, Department of Pediatrics, Division of Pediatric Cardiology, Istanbul University-Cerrahpasa, Istanbul, Turkey.; Madazli R; Cerrahpasa Medical Faculty, Department of Obstetrics and Gynecology, Division of Perinatology, Istanbul University- Cerrahpasa, Istanbul, Turkey.; Erenel H; Cerrahpasa Medical Faculty, Department of Obstetrics and Gynecology, Division of Perinatology, Istanbul University- Cerrahpasa, Istanbul, Turkey.; Kaymak D; Cerrahpasa Medical Faculty, Department of Obstetrics and Gynecology, Division of Perinatology, Istanbul University- Cerrahpasa, Istanbul, Turkey.; Eraslan S; Medical Genetics Department, Koç University School of Medicine, Istanbul, Turkey.; Kayserili H; Medical Genetics Department, Koç University School of Medicine, Istanbul, Turkey.

Publisher: Informa Healthcare Country of Publication: England NLM ID: 101230972 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1551-3823 (Electronic) Linking ISSN: 15513815 NLM ISO Abbreviation: Fetal Pediatr Pathol Subsets: MEDLINE

Hitti-Malin RJ; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.; Panneman DM; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.; Corradi Z; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.; Boonen EGM; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.; Astuti G; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.; Dhaenens CM; Univ. Lille, Inserm, CHU Lille, U1172-LilNCog-Lille Neuroscience & Cognition, F-59000 Lille, France.; Stöhr H; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany.; Weber BHF; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany.; Institute of Clinical Human Genetics, University Hospital Regensburg, 93053 Regensburg, Germany.; Sharon D; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 91120, Israel.; Banin E; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 91120, Israel.; Karali M; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', 80131 Naples, Italy.; Banfi S; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', 80131 Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Italy.; Ben-Yosef T; Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 31096, Israel.; Glavač D; Department of Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.; Center for Human Genetics and Pharmacogenomics, Faculty of Medicine, University of Maribor, 2000 Maribor, Slovenia.; Farrar GJ; The School of Genetics and Microbiology, The University of Dublin Trinity College, D02 VF25 Dublin, Ireland.; Ayuso C; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28049 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Liskova P; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.; Dudakova L; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.; Vajter M; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.; Ołdak M; Department of Histology and Embryology, Medical University of Warsaw, 02-004 Warsaw, Poland.; Szaflik JP; Department of Ophthalmology, Medical University of Warsaw, SPKSO Ophthalmic University Hospital, 03-709 Warsaw, Poland.; Matynia A; College of Optometry, University of Houston, Houston, TX 77004, USA.; Jules Stein Eye Institute, Los Angeles, CA 90095, USA.; Ophthalmology, University of California Los Angeles David Geffen School of Medicine, Los Angeles, CA 90095, USA.; Gorin MB; Jules Stein Eye Institute, Los Angeles, CA 90095, USA.; Kämpjärvi K; Blueprint Genetics, 02150 Espoo, Finland.; Bauwens M; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.; De Baere E; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.; Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Li CHZ; Department of Ophthalmology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Klaver CCW; Department of Ophthalmology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Inglehearn CF; Division of Molecular Medicine, Leeds Institute of Medical Research, St. James's University Hospital, University of Leeds, Leeds LS9 7TF, UK.; Fujinami K; Department of Ophthalmology, The Jikei University School of Medicine, Tokyo 105-8461, Japan.; Rivolta C; Institute of Molecular and Clinical Ophthalmology Basel, 4031 Basel, Switzerland.; Allikmets R; Department of Ophthalmology, Columbia University, New York, NY 10027, USA.; Department of Pathology & Cell Biology, Columbia University, New York, NY 10027, USA.; Zernant J; Department of Ophthalmology, Columbia University, New York, NY 10027, USA.; Lee W; Department of Ophthalmology, Columbia University, New York, NY 10027, USA.; Podhajcer OL; Laboratorio de Terapia Molecular y Celular (Genocan), Fundación Instituto Leloir, CONICET, Buenos Aires 1405, Argentina.; Fakin A; Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.; Sajovic J; Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.; AlTalbishi A; St John of Jerusalem Eye Hospital Group, East Jerusalem 91198, Palestine.; Valeina S; Department of Ophthalmology, Riga Stradins University, LV-1007 Riga, Latvia.; Children's Clinical University Hospital, LV-1004 Riga, Latvia.; Taurina G; Children's Clinical University Hospital, LV-1004 Riga, Latvia.; Vincent AL; Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, The University of Auckland, Grafton, Auckland 1023, New Zealand.; Eye Department, Greenlane Clinical Centre, Auckland District Health Board, Auckland 1142, New Zealand.; Roberts L; University of Cape Town/MRC Precision and Genomic Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.; Ramesar R; University of Cape Town/MRC Precision and Genomic Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.; Sartor G; Department of Pharmacy and Biotechnology, University of Bologna, 40127 Bologna, Italy.; Luppi E; Department of Medical and Surgical Sciences, University of Bologna, 40127 Bologna, Italy.; Unit of Medical Genetics, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.; Downes SM; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, Oxford University, Oxford OX3 9DU, UK.; Oxford Eye Hospital, Oxford University NHS Foundation Trust, Oxford OX3 9DU, UK.; van den Born LI; The Rotterdam Eye Hospital, 3011 BH Rotterdam, The Netherlands.; McLaren TL; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.; De Roach JN; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.; Lamey TM; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.; Thompson JA; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.; Chen FK; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.; Tracewska AM; Datana Solutions, 54-530 Wroclaw, Poland.; Kamakari S; Ophthalmic Genetics Unit, OMMA Ophthalmological Institute of Athens, 115 25 Athens, Greece.; Sallum JMF; Department of Ophthalmology and Visual Sciences, Universidade Federal de São Paulo, São Paulo 04023-062, SP, Brazil.; Instituto de Genética Ocular, São Paulo 04552-050, SP, Brazil.; Bolz HJ; Institute of Human Genetics, University Hospital of Cologne, 50937 Cologne, Germany.; Kayserili H; Department of Medical Genetics, Koc University School of Medicine (KUSOM), 34450 Istanbul, Turkey.; Roosing S; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.; Cremers FPM; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101596414 Publication Model: Electronic Cited Medium: Internet ISSN: 2218-273X (Electronic) Linking ISSN: 2218273X NLM ISO Abbreviation: Biomolecules Subsets: MEDLINE