文献
J-GLOBAL ID:202202253429053315
整理番号:22A0627086
QRICH1関連神経発達障害の臨床および分子スペクトル【JST・京大機械翻訳】
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder
著者 (81件):
Kumble Smitha
(Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne, Australia)
,
Levy Amanda M.
(Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark)
,
Punetha Jaya
(Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA)
,
Punetha Jaya
(Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York, USA)
,
Gao Hua
(Department of Review Analysis, GeneDx LLC, Maryland, USA)
,
Ah Mew Nicholas
(Rare Disease Institute, Children’s National Hospital, Washington, District of Columbia, USA)
,
Anyane-Yeboa Kwame
(Department of Pediatrics, Columbia University Irving Medical Center, New York City, New York, USA)
,
Benke Paul J.
(Division of Genetics, Joe DiMaggio Children’s Hospital, Hollywood, Florida, USA)
,
Berger Sara M.
(Department of Pediatrics, Columbia University Irving Medical Center, New York City, New York, USA)
,
Bjerglund Lise
(Department of Pediatrics, University Hospital Hvidovre, Hvidovre, Denmark)
,
Campos-Xavier Belinda
(Medical Genetics Unit, Hospital Pediatrico, Centro Hospitalar e Universitario de Coimbra, Coimbra, Portugal)
,
Campos-Xavier Belinda
(Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne (CHUV), Lausanne, Switzerland)
,
Ciliberto Michael
(Stead Family Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA)
,
Cohen Julie S.
(Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA)
,
Cohen Julie S.
(Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA)
,
Comi Anne M.
(Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA)
,
Comi Anne M.
(Departments of Neurology and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA)
,
Curry Cynthia
(Deptartment of Pediatrics, Genetic Medicine, UCSF/Fresno, Fresno, California, USA)
,
Damaj Lena
(Service de pediatrie et de genetique clinique, CHU Rennes, Rennes, France)
,
Denomme-Pichon Anne-Sophie
(INSERM UMR1231 Equipe GAD, Universite de Bourgogne, Dijon, France)
,
Denomme-Pichon Anne-Sophie
(Unite Fonctionnelle Innovation en Diagnostic genomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France)
,
Emrick Lisa
(Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA)
,
Emrick Lisa
(Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA)
,
Faivre Laurence
(Centre de Reference Anomalies du Developpement et Syndromes Malformatifs, FHU TRANSLAD, Hopital d’Enfants, CHU Dijon, Dijon, France)
,
Faivre Laurence
(Inserm UMR1231 GAD, Genetique des Anomalies du Developpement, Universite de Bourgogne, Dijon, France)
,
Fasano Mary Beth
(Internal Medicine & Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA)
,
Fievet Alice
(Laboratoire de biologie medicale multisites Seqoia-FMG2025, Paris, France)
,
Fievet Alice
(Service Genetique des Tumeurs, Gustave Roussy, Villejuif, France)
,
Finkel Richard S.
(Nemours Children’s Hospital, Orlando, Florida, USA)
,
Finkel Richard S.
(Center for Experimental Neurotherapeutics, St. Jude Children’s Research Hospital, Memphis, Tennessee, USA)
,
Garcia-Minaur Sixto
(Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Idipaz, Madrid, Spain)
,
Garcia-Minaur Sixto
(Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER, U753), Instituto Carlos III, Madrid, Spain)
,
Gerard Amanda
(Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA)
,
Gerard Amanda
(Texas Children’s Hospital, Houston, Texas, USA)
,
Gomez-Puertas Paulino
(Molecular Modelling Group, Severo Ochoa Molecular Biology Centre (CBMSO, CSIC-UAM), Madrid, Spain)
,
Guillen Sacoto Maria J.
(Clinical Genomics Program, GeneDx, Maryland, USA)
,
Hoffman Trevor L.
(Regional Department of Genetics, Southern California Kaiser Permanente Medical Group, Pasadena, California, USA)
,
Howard Lillian
(Stead Family Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA)
,
Iglesias Alejandro D.
(Division of Clinical Genetics, Columbia University Irving Medical Center, New York City, New York, USA)
,
Izumi Kosuke
(Divison of Human Genetics, Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA)
,
Larson Austin
(Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA)
,
Leiber Anja
(Department of Neuropediatrics, Childrens Hospital of Eastern Switzerland St. Gallen, St. Gallen, Switzerland)
,
Lozano Reymundo
(Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York, USA)
,
Marcos-Alcalde Inigo
(Molecular Modelling Group, Severo Ochoa Molecular Biology Centre (CBMSO, CSIC-UAM), Madrid, Spain)
,
Marcos-Alcalde Inigo
(Biosciences Research Institute, School of Experimental Sciences, Universidad Francisco de Vitoria, Pozuelo de Alarcon, Madrid, Spain)
,
Mintz Cassie S.
(Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York, USA)
,
Mullegama Sureni V.
(Clinical Genomics Program, GeneDx, Maryland, USA)
,
Moller Rikke S.
(Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark)
,
Moller Rikke S.
(Department of Regional Health Research, University of Southern Denmark, Odense, Denmark)
,
Odent Sylvie
(CHU Rennes, Hopital Sud, Service de Genetique Clinique, Univ Rennes, CNRS IGDR UMR 6290, Centre de reference Anomalies du developpement CLAD-Ouest, ERN ITHACA, Rennes, France)
,
Oppermann Henry
(Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany)
,
Ostergaard Elsebet
(Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark)
,
Ostergaard Elsebet
(Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark)
,
Pacio-Miguez Marta
(Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Idipaz, Madrid, Spain)
,
Palomares-Bralo Maria
(Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Idipaz, Madrid, Spain)
,
Palomares-Bralo Maria
(Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER, U753), Instituto Carlos III, Madrid, Spain)
,
Parikh Sumit
(Mitochondrial Medicine & Neurogenetics, Cleveland Clinic, Cleveland, Ohio, USA)
,
Paulson Anna M.
(Stead Family Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA)
,
Platzer Konrad
(Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany)
,
Posey Jennifer E.
(Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA)
,
Potocki Lorraine
(Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA)
,
Potocki Lorraine
(Texas Children’s Hospital, Houston, Texas, USA)
,
Revah-Politi Anya
(Institute for Genomic Medicine, Columbia University Medical Center, New York City, New York, USA)
,
Revah-Politi Anya
(Precision Genomics Laboratory, Columbia University Irving Medical Center, New York City, New York, USA)
,
Rio Marlene
(Service de Genetique, Hopital Necker-Enfants Malades, Assistance Publique-Hopitaux de Paris (APHP), Paris, France)
,
Ritter Alyssa L.
(Divison of Human Genetics, Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA)
,
Robinson Scott
(Department of Pediatrics, Columbia University Irving Medical Center, New York City, New York, USA)
,
Rosenfeld Jill A.
(Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA)
,
Rosenfeld Jill A.
(Baylor Genetics Laboratories, Houston, Texas, USA)
,
Santos-Simarro Fernando
(Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Idipaz, Madrid, Spain)
,
Santos-Simarro Fernando
(Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER, U753), Instituto Carlos III, Madrid, Spain)
,
Sousa Sergio B.
(Medical Genetics Unit, Hospital Pediatrico, Centro Hospitalar e Universitario de Coimbra, Coimbra, Portugal)
,
Sousa Sergio B.
(University Clinic of Genetics, Faculty of Medicine, University of Coimbra, Coimbra, Portugal)
,
Undiagnosed Diseases Network
,
Weber Mathys
(Centre de Reference Anomalies du Developpement et Syndromes Malformatifs, FHU TRANSLAD, Hopital d’Enfants, CHU Dijon, Dijon, France)
,
Xie Yili
(Clinical Genomics Program, GeneDx, Maryland, USA)
,
Chung Wendy K.
(Department of Pediatrics, Columbia University Irving Medical Center, New York City, New York, USA)
,
Brown Natasha J.
(Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne, Australia)
,
Brown Natasha J.
(Department of Paediatrics, Royal Children’s Hospital, University of Melbourne, Melbourne, Australia)
,
Tuemer Zeynep
(Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark)
,
Tuemer Zeynep
(Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark)
資料名:
Human Mutation
(Human Mutation)
巻:
43
号:
2
ページ:
266-282
発行年:
2022年
JST資料番号:
W2601A
ISSN:
1059-7794
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
アメリカ合衆国 (USA)
言語:
英語 (EN)