학술논문
'학술논문'
에서 검색결과 407건 | 목록
1~10
Academic Journal
Morimoto, Marie; Ryu, Eunjin; Steger, Benjamin J.; Dixit, Abhijit; Saito, Yoshihiko; Yoo, Juyeong; van der Ven, Amelie T.; Hauser, Natalie; Steinbach, Peter J.; Oura, Kazumasa; Huang, Alden Y.; Kortüm, Fanny; Ninomiya, Shinsuke; Rosenthal, Elisabeth A.; Robinson, Hannah K.; Guegan, Katie; Denecke, Jonas; Subramony, Sankarasubramoney H.; Diamonstein, Callie J.; Ping, Jie; Fenner, Mark; Balton, Elsa V.; Strohbehn, Sam; Allworth, Aimee; Bamshad, Michael J.; Gandhi, Mahi; Dipple, Katrina M.; Blue, Elizabeth E.; Jarvik, Gail P.; Lau, C. Christopher; Holm, Ingrid A.; Weisz-Hubshman, Monika; Solomon, Benjamin D.; Nelson, Stanley F.; Nishino, Ichizo; Adams, David R.; Kang, Sukhyun; Gahl, William A.; Toro, Camilo; Myung, Kyungjae; Malicdan, May Christine V.
In The American Journal of Human Genetics 5 September 2024 111(9):1970-1993
Academic Journal
U. Munawar; J. Theuersbacher; L. Haertle; X. Zhou; S. Han; A. Regensburger; J. Mersi; M. Bittrich; F. Seifert; M.S. Haider; S. Nerreter; C. Vogt; E. Teufel; H. Einsele; L. Rasche; D. Kampik; K.M. Kortüm
HemaSphere, Vol 7, Iss S2, Pp 35-35 (2023)
Academic Journal
X. Zhou; A. Hofmann; C. Vogt; S. Nerreter; E. Teufel; E. Stanojkovska; M. Truger; B. Engel; X. Xiao; F. Eisele; P. Weis; A. Barcic; J. Peter; C. Riedhammer; M. J. Steinhardt; H. Hornburger; S. Han; L. Haertle; U. Munawar; J. Mersi; C. Haferlach; H. Einsele; K. M. Kortüm; L. Rasche
HemaSphere, Vol 7, Iss S2, Pp 39-39 (2023)
Academic Journal
Kalm T; Institute for Cellular and Integrative Physiology, Center for Experimental Medicine, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Schob C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Völler H; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands.; Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands.; Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands.; Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.; Klabunde-Cherwon A; Division of Pediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.; Ries M; Division of Pediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.; Syrbe S; Division of Pediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.; Beccaria F; Epilepsy Center, Department of Child Neuropsychiatry, Territorial Social-Health Agency, 46100 Mantova, Italy.; Madia F; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Scala M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16145 Genoa, Italy.; Zara F; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16145 Genoa, Italy.; Hofstede F; Department of General Pediatrics, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands.; Simon MEH; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands.; van Jaarsveld RH; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands.; Oegema R; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands.; van Gassen KLI; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands.; Holwerda SJB; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3000 CA, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam 3000 CA, the Netherlands; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3000 CA, the Netherlands.; Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3000 CA, the Netherlands.; van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3000 CA, the Netherlands.; Álvarez S; Genomics and Medicine, NIMGenetics, 28108 Madrid, Spain.; Fernández-Jaén A; Pediatric Neurology Department, Quironsalud University Hospital Madrid, School of Medicine, European University of Madrid, 28224 Madrid, Spain.; Porta J; Genomics, Genologica Medica, 29016 Málaga, Spain.; Accogli A; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre, QC H4A 3J1 Montreal, Canada; Department of Human Genetics, McGill University, QC H4A 3J1 Montreal, Canada.; Mancardi MM; Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16145 Genoa, Italy; Pediatric Neurology and Neuromuscular Diseases Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Iacomino M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul 110-744, Republic of Korea; Department of Genomic Medicine, Rare Disease Center, Seoul National University Hospital, Seoul 03080, Republic of Korea.; Jang S; Department of Pediatrics, Seoul National University College of Medicine, Seoul 110-744, Republic of Korea.; Kim SY; Department of Genomic Medicine, Rare Disease Center, Seoul National University Hospital, Seoul 03080, Republic of Korea.; Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto ON M5G 1E2 Toronto, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for SickKids, University of Toronto, M5G 1X8 Toronto, Canada.; Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for SickKids, University of Toronto, M5G 1X8 Toronto, Canada; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, AB T6G 2H7 Edmonton, Canada.; Depienne C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, 45122 Essen, Germany.; Kampmeier A; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, 45122 Essen, Germany.; Kuechler A; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, 45122 Essen, Germany.; Surowy H; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, 45122 Essen, Germany.; Bertini ES; Neuromuscular Disorders, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.; Radio FC; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.; Mancini C; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.; Pizzi S; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.; Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.; Gauthier L; Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Diseases Unit, University Hospital of Montpellier, 34295 Montpellier, France.; Genevieve D; Montpellier University, Inserm U1183, Montpellier, France; Department of Clinical Genetics, University Hospital of Montpellier, 34295 Montpellier, France.; Tharreau M; Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Diseases Unit, University Hospital of Montpellier, 34295 Montpellier, France.; Azoulay N; The Genetic Institute of Maccabi Health Services, Rehovot 7610000, Israel; Raphael Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva 49100, Israel.; Zaks-Hoffer G; Raphael Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva 49100, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel.; Gilad NK; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah Tikvah 4920235, Israel.; Orenstein N; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah Tikvah 4920235, Israel.; Bernard G; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre, QC H4A 3J1 Montreal, Canada; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Canada.; Thiffault I; Genomic Medicine Center, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO, USA; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO, USA.; Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Bähring R; Institute for Cellular and Integrative Physiology, Center for Experimental Medicine, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address: r.baehring@uke.uni-hamburg.de.; Kindler S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address: kindler@uke.de.
Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Academic Journal
Rinaldi B; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy.; Bayat A; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund 4293, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense 5230Denmark.; Zachariassen LG; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.; Sun JH; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Department of Neurology, Nanjing Drum Tower Hospital, Medical School, Nanjing University, Nanjing 210032, China.; Zhejiang Key Laboratory of Organ Development and Regeneration, College of Life and Environmental Sciences, Hangzhou Normal University, Hangzhou 310030, China.; Ge YH; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Department of Neurology, Nanjing Drum Tower Hospital, Medical School, Nanjing University, Nanjing 210032, China.; Ministry of Education Key Laboratory of Model Animal for Disease Study, National Resource Center for Mutant Mice, Jiangsu Key Laboratory of Molecular Medicine, Medical School, Nanjing University, Nanjing 210032, China.; Zhao D; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.; Bonde K; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.; Madsen LH; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.; Awad IAA; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.; Bagiran D; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.; Sbeih A; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.; Shah SM; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.; El-Sayed S; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.; Lyngby SM; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.; Pedersen MG; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.; Stenum-Berg C; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.; Walker LC; Department of Chemistry and Biomolecular Sciences, University of Ottawa, Ottawa K1H 8M5, Canada.; Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany.; Delahaye-Duriez A; Unité fonctionnelle de médecine génomique et génétique clinique, Hôpital Jean Verdier, Assistance Publique des Hôpitaux de Paris, Bondy 93140, France.; NeuroDiderot, UMR 1141, Inserm, Université Paris Cité, Paris 75019, France.; UFR SMBH, Université Sorbonne Paris Nord, Bobigny 93000, France.; Emrick LT; Division of Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Sully K; Division of Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.; Murali CN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Plaud Gonzalez JA; Division of Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.; Parnes M; Division of Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.; Pediatric Movement Disorders Clinic, Texas Children's Hospital and Baylor College of Medicine, Houston, TX 77030, USA.; Friedman J; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Department of Neurosciences, University of California San Diego, San Diego, CA 92123, USA.; Department of Pediatrics, University of California San Diego, San Diego, CA 92123, USA.; Isidor B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.; Lefranc J; Pediatric Neurophysiology Department, CHU de Brest, Brest 29200, France.; Redon S; Service de Génétique Médicale, CHU de Brest, Brest 29200, France.; Université de Brest, CHU de Brest, UMR 1078, Brest F29200, France.; Heron D; APHP Sorbonne Université, Département de Génétique, Hôpital Armand Trousseau and Groupe Hospitalier Pitié-Salpêtrière, Paris 75013, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris 75013, France.; Mignot C; APHP Sorbonne Université, Département de Génétique, Hôpital Armand Trousseau and Groupe Hospitalier Pitié-Salpêtrière, Paris 75013, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris 75013, France.; Keren B; Genetic Department, APHP, Sorbonne Université, Pitié-Salpêtrière Hospital, Paris 75013, France.; Fradin M; Service de Génétique Médicale, Hôpital Sud, CHU de Rennes, Rennes 35200, France.; Dubourg C; Service de Génétique Moléculaire et Génomique, CHU de Rennes, Rennes 35200, France.; Université de Rennes, CNRS, Institut de Genetique et Developpement de Rennes, UMR 6290, Rennes 35200, France.; Mercier S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes 44000, France.; Besnard T; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes 44000, France.; Cogne B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes 44000, France.; Deb W; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes 44000, France.; Rivier C; Department of Paediatrics, Villefranche-sur-Saône Hospital, Villefranche-sur-Saône 69655, France.; Milani D; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy.; Bedeschi MF; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy.; Di Napoli C; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy.; Grilli F; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy.; Marchisio P; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Pediatria Pneumoinfettivologia, Milan 20122, Italy.; University of Milan, Milan 20122, Italy.; Koudijs S; Department of Neurology, ENCORE, Erasmus Medical Center-Sophia Children's Hospital, Rotterdam 3015, The Netherlands.; Veenma D; Department of Pediatrics, ENCORE, Erasmus Medical Center-Sophia Children's Hospital, Rotterdam 3015, The Netherlands.; Argilli E; Institute of Human Genetics, University of California, San Francisco, CA 94143, USA.; Department of Neurology, Weill Institute for Neurosciences, University of California, San Francisco, CA 94143, USA.; Lynch SA; Department of Clinical Genetics, Children's Health Ireland Crumlin, Dublin D12 N512, Ireland.; Au PYB; Department of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.; Ayala Valenzuela FE; Hospital Angeles Tijuana, Tijuana 22010, Mexico.; Brown C; Illumina Inc, San Diego, CA 92122, USA.; Masser-Frye D; Division of Genetics, Department of Pediatrics, UC San Diego School of Medicine, Rady Children's Hospital, San Diego, CA 92123, USA.; Jones M; Division of Genetics, Department of Pediatrics, UC San Diego School of Medicine, Rady Children's Hospital, San Diego, CA 92123, USA.; Patron Romero L; Facultad de Medicina y Psicología, Universidad Autónoma de Baja California, Tijuana 22010, Mexico.; Li WL; Breakthrough Genomics Inc, Irvine, CA 92618, USA.; Thorpe E; Illumina Inc, San Diego, CA 92122, USA.; Hecher L; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg 20215, Germany.; Johannsen J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg 20215, Germany.; Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg 20215, Germany.; McNiven V; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1E8, Canada.; Fred A Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, ON M5G 2C4, Canada.; Szuto A; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1E8, Canada.; Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON M5G 1E8, Canada.; Wakeling E; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.; Cruz V; DDC Clinic Center for Special Needs Children, Middlefield, OH 44062, USA.; Sency V; DDC Clinic Center for Special Needs Children, Middlefield, OH 44062, USA.; Wang H; DDC Clinic Center for Special Needs Children, Middlefield, OH 44062, USA.; Piard J; Centre de Génétique Humaine, Centre Hospitalier Universitaire, Université de Franche-Comté, Besançon 25000, France.; UMR 1231 GAD, Inserm, Université de Bourgogne Franche-Comté, Dijon 21000, France.; Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany.; Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany.; Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany.; Condell A; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria 3052, Australia.; Ben-Zeev B; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan 52621, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv 4R73+8Q, Israel.; Kaur S; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria 3052, Australia.; Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, Victoria 3052, Australia.; Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria 3052, Australia.; Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, Victoria 3052, Australia.; Discipline of Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, New South Wales 2050, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NewSouth Wales 2050, Australia.; Piton A; Hôpitaux Universitaires de Strasbourg, Laboratoire de Diagnostic Génétique, Strasbourg 67000, France.; Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen 91054, Germany.; Department of Human Genetics, Inselspital Bern, University of Bern, Bern 3010, Switzerland.; Kraus C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen 91054, Germany.; Micalizzi A; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome 00165, Italy.; Trivisano M; Neurology, Epilepsy and Movement Disorders, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome 00165, Italy.; Specchio N; Neurology, Epilepsy and Movement Disorders, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome 00165, Italy.; Lesca G; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon 69100, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM U1315, Lyon 69100, France.; Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund 4293, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense 5230Denmark.; Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen 2100, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen 2100, Denmark.; Musgaard M; Department of Chemistry and Biomolecular Sciences, University of Ottawa, Ottawa K1H 8M5, Canada.; Gerard B; Laboratoires de diagnostic genetique, Institut de genetique Medicale d'Alsace, Hopitaux Universitaires de Strasbourg, Strasbourg 67000, France.; Lemke JR; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig 04103, Germany.; Shi YS; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Department of Neurology, Nanjing Drum Tower Hospital, Medical School, Nanjing University, Nanjing 210032, China.; Ministry of Education Key Laboratory of Model Animal for Disease Study, National Resource Center for Mutant Mice, Jiangsu Key Laboratory of Molecular Medicine, Medical School, Nanjing University, Nanjing 210032, China.; Guangdong Institute of Intelligence Science and Technology, Zhuhai 519031, China.; Kristensen AS; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.
Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Academic Journal
M. J. Steinhardt; E. Wiercinska; M. Pham; G. U. Grigoleit; A. Mazzoni; M. Da-Via; X. Zhou; K. Meckel; K. Nickel; J. Duell; F. C. Krummenast; S. Kraus; C. Hopkinson; B. Weissbrich; W. Müllges; G. Stoll; K. M. Kortüm; H. Einsele; H. Bonig; L. Rasche
Journal of Translational Medicine, Vol 18, Iss 1, Pp 1-6 (2020)
Academic Journal
N. W. van de Donk; N. Bahlis; M.-V. Mateos; K. Weisel; B. Dholaria; A. L. Garfall; H. Goldschmidt; T. G. Martin; D. Morillo; D. E. Reece; D. Hurd; P. Rodríguez-Otero; M. Bhutani; A. D’Souza; A. Oriol; E. Askari; J. F. San-Miguel; K. M. Kortüm; D. Vishwamitra; S. Xin Wang Lin; T. J. Prior; L. Vandenberk; M.-A. D. Smit; J. D. Goldberg; R. Wäsch; A. Chari
HemaSphere, Vol 6, Pp 84-85 (2022)
Academic Journal
Accogli A; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre (MUHC), Montreal, QC, Canada; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Park YN; Department of Human Genetics, University of Michigan, Ann Arbor, MI.; Lenk GM; Department of Human Genetics, University of Michigan, Ann Arbor, MI.; Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Denecke J; University Children's Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany.; Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Salpietro V; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, United Kingdom; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, 67100, L'Aquila, Italy.; de Marco P; UOC Genetica Medica, IRCCS G. Gaslini, Genoa, Italy.; Guerrisi S; UOC Genetica Medica, IRCCS G. Gaslini, Genoa, Italy.; Torella A; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Srour M; Department of Human Genetics, McGill University, Montreal, QC, Canada; Department of Pediatrics, Division of Pediatric Neurology, McGill University, Montreal, QC, Canada; McGill University Health Center (MUHC) Research Institute, Montreal, QC, Canada; Montreal Neurological Institute, McGill University, Montreal, QC, Canada.; Turro E; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY; Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY.; Labarque V; Center for Molecular and Vascular Biology, Department of Cardiovascular Sciences, University of Leuven, Leuven, Belgium; Paediatric Hemato-Oncology, University Hospitals Leuven, Leuven, Belgium.; Freson K; Center for Molecular and Vascular Biology, Department of Cardiovascular Sciences, University of Leuven, Leuven, Belgium.; Piatelli G; Department of Neurosurgery, Gaslini Children's Hospital, Genoa, Italy.; Capra V; Genomics and Clinical Genetics, IRCCS Instituto G. Gaslini, Genoa, Italy.; Kitzman JO; Department of Human Genetics, University of Michigan, Ann Arbor, MI.; Meisler MH; Department of Human Genetics, University of Michigan, Ann Arbor, MI. Electronic address: meislerm@umich.edu.
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
Academic Journal
Kaiyrzhanov R; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.; Rad A; Cellular and Molecular Research Center, Sabzevar University of Medical Sciences, Sabzevar 009851, Iran.; Tübingen Hearing Research Centre, Department of Otolaryngology, Head and Neck Surgery, Eberhard Karls University, 72076 Tübingen, Germany.; Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.; Bertoli-Avella A; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany.; Kallemeijn WW; Department of Chemistry, Imperial College London, Molecular Sciences Research Hub, London W12 0BZ, UK.; Chemical Biology and Therapeutic Discovery Lab, The Francis Crick Institute, London NW1 1AT, UK.; Godwin A; European Xenopus Resource Centre-XenMD, School of Biological Sciences, University of Portsmouth, Portsmouth PO1 2DT, UK.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, 12622 Cairo, Egypt.; Huang K; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.; Lau T; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.; Petree C; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.; Efthymiou S; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.; Karimiani EG; Genetics Research Centre, Molecular and Clinical Sciences Institute, St George's University of London, London SW17 0RE, UK.; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad 1696700, Iran.; Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg 69120, Germany.; Normand EA; Clinical Genomics Program, GeneDx, Gaithersburg, MD 20877, USA.; Rudnik-Schöneborn S; Institute of Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria.; Schatz UA; Institute of Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria.; Institute of Human Genetics, Technical University of Munich, Munich, 81675, Germany.; Baggelaar MP; Department of Chemistry, Imperial College London, Molecular Sciences Research Hub, London W12 0BZ, UK.; Biomolecular Mass Spectrometry & Proteomics Group, Utrecht University, 3584 CH Utrecht, The Netherlands.; Ilyas M; Department of BioEngineering, University of Engineering and Applied Sciences, 19130 Swat, Pakistan.; Centre for Omic Sciences, Islamia College University, 25000 Peshawar, Pakistan.; Sultan T; Department of Pediatric Neurology, Institute of Child Health, Children Hospital, Lahore 54600, Pakistan.; Alvi JR; Department of Pediatric Neurology, Institute of Child Health, Children Hospital, Lahore 54600, Pakistan.; Ganieva M; Department of Neurology, Avicenna Tajik State Medical University, 734063 Dushanbe, Tajikistan.; Fowler B; Imaging Core, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.; Aanicai R; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany.; Tayfun GA; Department of Pediatric Genetics, Marmara University Medical School, 34722 Istanbul, Turkey.; Al Saman A; Pediatric Neurology Department, National Neuroscience Institute, King Fahad Medical City, 49046 Riyadh, Saudi Arabia.; Alswaid A; King Saud Bin Abdulaziz University for Health Sciences, Department of Pediatrics, King Abdullah Specialized Children's Hospital, Riyadh 11461, Saudi Arabia.; Amiri N; International Collaboration on Repair Discoveries (ICORD), University of British Columbia, Vancouver, BC V5Z 1M9, Canada.; Asilova N; Department of Neurology, Avicenna Tajik State Medical University, 734063 Dushanbe, Tajikistan.; Shotelersuk V; Center of Excellence for Medical Genomics, Department of Pediatrics, King Chulalongkorn Memorial Hospital, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand.; Yeetong P; Division of Human Genetics, Department of Botany, Faculty of Science, Chulalongkorn University, Bangkok 10330, Thailand.; Azam M; Pediatrics and Child Neurology, Wah Medical College, 47000 Wah Cantt, Pakistan.; Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd 94149-74877, Iran.; Monajemi GB; Pars Advanced and Minimally Invasive Medical Manners Research Center, Pars Hospital, Tehran, Iran.; Mohammadi P; Children's Medical Center, Pediatrics Center of Excellence, Ataxia Clinic, Tehran University of Medical Sciences, Tehran 1416634793, Iran.; Faculty of Medical Sciences, Department of Medical Genetics, Tarbiat Modares University, Tehran 1411944961, Iran.; Samie S; Pars Advanced and Minimally Invasive Medical Manners Research Center, Pars Hospital, Tehran, Iran.; Banu SH; Department of Paediatric Neurology and Development, Dr. M.R. Khan Shishu (Children) Hospital and Institute of Child Health, Dhaka 1216, Bangladesh.; Pinto Basto J; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany.; Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Bauer M; Division of Clinical Genetics and Metabolism, Nicklas Children's Hospital, Miami, FL 33155, USA.; Bauer P; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany.; Beetz C; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany.; Garshasbi M; Faculty of Medical Sciences, Department of Medical Genetics, Tarbiat Modares University, Tehran 1411944961, Iran.; Issa AH; Department of Neurology, University of Basrah, 61004 Basrah, Iraq.; Eyaid W; Department of Genetics and Precision Medicine, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh 11426, Saudi Arabia.; Ahmed H; Department of Genetics and Precision Medicine, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh 11426, Saudi Arabia.; Hashemi N; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, 13131-99137 Mashhad, Iran.; Hassanpour K; Non-Communicable Diseases Research Center, Sabzevar University of Medical Sciences, 319 Sabzevar, Iran.; Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 68010, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Neurology, Texas Children's Hospital, Houston, TX 77030, USA.; Pediatric Neurology, Neurogenetics and Rare Diseases, Boys Town National Research Hospital, Boys Town, NE 68131, USA.; Ibrohimov S; Department of Neurology, Avicenna Tajik State Medical University, 734063 Dushanbe, Tajikistan.; Abdul-Majeed BA; Molecular Pathology and Genetics, The Pioneer Molecular Pathology Lab, Baghdad 10044, Iraq.; Imdad M; Centre for Human Genetics, Hazara University, 21300 Mansehra, Pakistan.; Isrofilov M; Department of Neurology, Avicenna Tajik State Medical University, 734063 Dushanbe, Tajikistan.; Kaiyal Q; Department of Pediatric Neurology, Clalit Health Care, 2510500 Haifa, Israel.; Khan S; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany.; Kirmse B; SOM-Peds-Genetics, University of Mississippi Medical Center, Jackson MS, 39216, USA.; Koster J; Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers location AMC, 1100 DD Amsterdam, The Netherlands.; Lourenço CM; Faculdade de Medicina, Centro Universitario Estácio de Ribeirão Preto, 14096-160 São Paulo, Brazil.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Moldovan O; Serviço de Genética Médica, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, 1649-035 Lisboa, Portugal.; Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Najafi M; Pediatrics Genetics Division, Center for Pediatrics and Adolescent Medicine, Faculty of Medicine, Freiburg University, 79106 Freiburg, Germany.; Genome Research Division, Human Genetics Department, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.; Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 68010, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Rocha ME; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany.; Salpietro V; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.; Schmidts M; Pediatrics Genetics Division, Center for Pediatrics and Adolescent Medicine, Faculty of Medicine, Freiburg University, 79106 Freiburg, Germany.; Genome Research Division, Human Genetics Department, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.; CIBSS-Centre for Integrative Biological Signalling Studies, University of Freiburg, Freiburg, Germany.; Shalata A; Pediatrics and Medical Genetics, the Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, 31048 Haifa, Israel.; Bruce Rappaport Faculty of Medicine, the Technion institution of Technology, 3200003 Haifa, Israel.; Mahroum M; CIBSS-Centre for Integrative Biological Signalling Studies, University of Freiburg, Freiburg, Germany.; Talbeya JK; Pediatrics and Medical Genetics, the Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, 31048 Haifa, Israel.; Department of Radiology, The Bnai Zion Medical Center, Haifa 31048, Israel.; Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK.; Vazquez D; Division of Clinical Genetics and Metabolism, Nicklas Children's Hospital, Miami, FL 33155, USA.; Vetro A; Neuroscience Department, Meyer Children's Hospital IRCCS, 50139 Florence, Italy.; Waterham HR; Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers location AMC, 1100 DD Amsterdam, The Netherlands.; Zaman M; Department of Paediatric Neurology and Development, Dr. M.R. Khan Shishu (Children) Hospital and Institute of Child Health, Dhaka 1216, Bangladesh.; Schrader TA; Department of Biosciences, University of Exeter, Exeter EX4 4QD, UK.; Chung WK; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.; Department of Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA.; Guerrini R; Neuroscience Department, Meyer Children's Hospital IRCCS, 50139 Florence, Italy.; Neuroscience, Pharmacology and Child Health Department, University of Florence, 50139 Florence, Italy.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Neurology, Texas Children's Hospital, Houston, TX 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Gleeson J; Department of Neurosciences, University of California, San Diego, CA 92093, USA.; Department of Neurosciences, Rady Children's Institute for Genomic Medicine, San Diego, CA 92025, USA.; Suri M; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham NG5 1PB, UK.; Jamshidi Y; Genetics Research Centre, Molecular and Clinical Sciences Institute, St George's University of London, London SW17 0RE, UK.; Human Genetics Centre of Excellence, Novo Nordisk Research Centre Oxford, Oxford, OX3 7FZ, UK.; Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Vona B; Tübingen Hearing Research Centre, Department of Otolaryngology, Head and Neck Surgery, Eberhard Karls University, 72076 Tübingen, Germany.; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.; Institute for Auditory Neuroscience and Inner Ear Lab, University Medical Center Göttingen, 37075 Göttingen, Germany.; Schrader M; Department of Biosciences, University of Exeter, Exeter EX4 4QD, UK.; Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Guille M; European Xenopus Resource Centre-XenMD, School of Biological Sciences, University of Portsmouth, Portsmouth PO1 2DT, UK.; Tate EW; Department of Chemistry, Imperial College London, Molecular Sciences Research Hub, London W12 0BZ, UK.; Chemical Biology and Therapeutic Discovery Lab, The Francis Crick Institute, London NW1 1AT, UK.; Varshney GK; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.; Houlden H; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.; Maroofian R; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.
Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
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