European Journal of Medical Genetics

作者Elis Riin Tars-Hurt; Mare Lintrop; Riina Zordania; Laura Mauring; Ülle Murumets; Imbi Kuus; Katrin Õunap

作者单位Genetics and Personalized Medicine Clinic, Tartu University Hospital, Estonia; Institute of Clinical Medicine, University of Tartu, Estonia; Radiology Clinic, Tartu University Hospital, Estonia; Hôpital Ophtalmique Jules-Gonin, Lausanne, Switzerland; Eye Clinic, Tartu University Hospital, Estonia

作者Zihan Liu; Xiangzhi Fang; Azhen Wang; Peng Xu; Yuan Yin; Ruiting Li; Chaolin Huang; Limin Duan; Hong Qi

作者单位Wuhan Jinyintan Hospital, Tongji Medical College of Huazhong University of Science and Technology, Hubei Clinical Research Center for Infectious Diseases, Wuhan Research Center for Communicable Disease Diagnosis and Treatment, Chinese Academy of Medical Sciences, Joint Laboratory of Infectious Diseases and Health, Wuhan Institute of Virology and Wuhan Jinyintan Hospital, Chinese Academy of Sciences, Wuhan, 430023, China; Department of Critical Care Medicine, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China; Department of Emergency Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, China

作者Naeim Ehtesham; Mahta Mazaheri; Zahra Sadr; Mahdieh Yavari; Hossein Ahrar

作者单位Ariyogene Medical Genetics Laboratory, Yasuj, Iran; Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran; Dr. Mazaheri's Medical Genetics Laboratory, Yazd, Iran; Department of Medical Genetics, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran; Department of Radiology, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

作者Vojtěch Šimka; Jana Jedličková; Nela Navrátilová; Ondřej Hynek; Valentina Sand; Mari Murel; Alberto M. Pereira; Pavla Doležalová; Franz Schaefer

作者单位Centre for Paediatric Rheumatology and Autoinflammatory Diseases ERN-RITA, Department of Paediatrics and Inherited Metabolic Disorders, General University Hospital and 1st Faculty of Medicine, Charles University in Prague, Prague, Czech Republic; Centre for Paediatrics and Adolescent Medicine, University of Heidelberg, Heidelberg, Germany; Department of Endocrinology & Metabolism, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, the Netherlands; European Reference Network on Rare Endocrine Conditions (Endo-ERN), Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, the Netherlands

作者Viviane Sonaglio; Gabriela Oigman Bellas; Eliana Maria Monteiro Caran; Carina Buzzo de Lima Decario; Amaury Pinfildi de Freitas Bunho; Mauricio Longato; Guilherme Cordeiro; Luiz Guilherme Darrigo Junior; Mauro Geller

作者单位A.C.Camargo Cancer Center, Department of Pediatric Oncology, São Paulo, Brazil; José Alencar Gomes da Silva National Cancer Institute (INCA), Department of Pediatrics, Rio de Janeiro, Brazil; Pediatric Oncology Institute (IOP/GRAACC), Federal University of São Paulo (UNIFESP), São Paulo, Brazil; AstraZeneca, Medical Department, São Paulo, Brazil; ICON Strategic Solutions, São Paulo, Brazil; Nodian, São Paulo, Brazil; University of São Paulo (USP), Ribeirão Preto Medical School, Ribeirão Preto, Brazil; Carlos Chagas Post-Graduate Medical Institute (IPGMCC), Rio de Janeiro, RJ, Brazil; National Center for Neurofibromatosis (CNNF), Rio de Janeiro, RJ, Brazil; Centro Universitario Serra dos Orgaos (UNIFESO), Teresopolis, RJ, Brazil

作者Eriko Hatai; Yuri Sonoda; Motoshi Sonoda; Kei Nishiyama; Yusaku Nagatomo; Shinya Suematsu; Atsuhisa Fukuta; Pin Fee Chong; Hiroshi Hamada; Noriyuki Kaku; Yuichiro Hirata; Hazumu Nagata; Kenichiro Yamamura; Shuichi Yatsuga; Hiroyuki Mishima; Koh-ichiro Yoshiura; Yoshinao Oda; Tatsuro Tajiri; Shouichi Ohga; Yasunari Sakai

作者单位Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan; Department of Pediatric Surgery, Reproductive and Developmental Medicine, Faculty of Medical Sciences, Kyushu University, Fukuoka, Japan; Department of Pediatric Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan; Department of Anatomic Pathology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan; Emergency and Critical Care Center, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan; Department of Pediatrics, Faculty of Medicine, Fukuoka University, Fukuoka, Japan; Department of Human Genetics, Leading Medical Research Core Unit, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan

作者Jingjing Zhang; Jing He; Hairui Pan; Dan Wang; Qinghua Zhang; Shengju Hao; Ling Hui; Chuan Zhang

作者单位Medical Genetics Center, Gansu Provincial Maternity and Child-care Hospital (Gansu Provincial Central Hospital)/Gansu Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou, Gansu, 730000, China; Gansu Key Laboratory of Maternal-Fetal Medicine and Reproductive Protection, Lanzhou, Gansu, 730000, China

作者Giulia Lauretti; Roberta Pietrobono; Benedetta Niccolini; Clarissa Modafferi; Maria Accadia; Ada Piepoli; Daniela Orteschi; Maria Grazia Pomponi; Pietro Chiurazzi; Maurizio Genuardi; Giovanni Neri; Elisabetta Tabolacci

作者单位UOC Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, 00168, Italy; Dept. of Life Sciences and Public Health, Section of Genomic Medicine, Catholic University of Sacred Heart, Rome, 00168, Italy; Medical Genetics Service, Hospital Cardinale G. Panico, Tricase, 73039, Italy; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013, Italy

作者Ayoung Park; Naye Choi; Tae-Joon Cho; Jung Min Ko

作者单位Department of Pediatrics, Hallym University Sacred Heart Hospital, Hallym University College of Medicine, Anyang, South Korea; Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, South Korea; Department of Orthopaedic Surgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, South Korea; Center for Rare Diseases, Seoul National University Hospital, Seoul, South Korea

作者Sarah Chamieh; Pauline Marzin; Sophie Achard; Pierre Blanc; Laurence Jonard; Saba Battelino; Katarina Trebusak; Margaux Serey-Gaut; Sandrine Marlin

作者单位Service de Médecine Génomique des maladies rares, Hôpital Necker Enfants Malades, AP-HP Centre Université de Paris, Paris, 75015, France; CRMR Surdités Génétiques, Service de Médecine Génomique des maladies rares, Hôpital Necker Enfants Malades, AP-HP Centre Université de Paris, Paris, 75015, France; Service d'ORL Pédiatrique et de Chirurgie Cervico-Faciale, Hôpital Necker-Enfants Malades, AP-HP, Université de Paris Cité, Paris, 75015, France; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, 75014, France; UF Développement et morphogénèse, Fédération de Génétique et médecine génomique, Service de Médecine génomique des maladies rares, Hôpital Necker-Enfants Malades, AP-HP, Paris, 75015, France; Department of Otorhinolaryngology and Cervicofacial Surgery, University Medical Centre Ljubljana, Ljubljana, 1000, Slovenia; Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, Ljubljana, 1000, Slovenia; Centre de recherche en Audiologie, Hôpital Necker Enfants Malades, AP-HP, Paris, 75015, France; Genetics of rare Ophthalmological, auditory and mitochondrial disorders, Institut Imagine, Inserm U1163, Université Paris Cité, Paris, France