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J-GLOBAL ID：202102271480647104
整理番号：21A2423632
CHD4関連症候群: 臨床スペクトル,遺伝子型-表現型相関および分子基盤の包括的研究【JST・京大機械翻訳】
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis
Weiss Karin
(The Genetics Institute, Rambam Health Care Campus, Haifa, Israel)
,
Lazar Hayley P.
(Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA)
,
Kurolap Alina
(The Genetics Institute, Rambam Health Care Campus, Haifa, Israel)
,
Kurolap Alina
(The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel)
,
Martinez Ariel F.
(Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA)
,
Paperna Tamar
(The Genetics Institute, Rambam Health Care Campus, Haifa, Israel)
,
Cohen Lior
(Genetics Institute, Schneider Children’s Medical Center, Petah Tikva, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel)
,
Smeland Marie F.
(Department of Medical Genetics, University Hospital of North Norway, Tromso, Norway)
,
Whalen Sandra
(UF de genetique clinique, Centre de Reference Maladies Rares des Anomalies du developpement et syndromes malformatifs, APHP, Hopital Trousseau, Paris, France)
,
Heide Solveig
(AP-HP, Departement de Genetique, Centre de Reference Maladies Rares “Anomalies du developpement et syndromes malformatifs” Hopital de la Pitie Salpetriere, Paris, France)
,
Keren Boris
(AP-HP, Departement de Genetique, Centre de Reference Maladies Rares “Anomalies du developpement et syndromes malformatifs” Hopital de la Pitie Salpetriere, Paris, France)
,
Terhal Pauline
(Department of Genetics, Utrecht University Medical Center, Utrecht, the Netherlands)
,
Irving Melita
(Department of Clinical Genetics, Guy’s Hospital, London, UK)
,
Takaku Motoki
(Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA)
,
Roberts John D.
(Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA)
,
Petrovich Robert M.
(Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA)
,
Schrier Vergano Samantha A.
(Division of Medical Genetics and Metabolism, Children’s Hospital of The King’s Daughters, Norfolk, VA, USA)
,
Schrier Vergano Samantha A.
(Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA, USA)
,
Kenney Amy
(Division of Medical Genetics and Metabolism, Children’s Hospital of The King’s Daughters, Norfolk, VA, USA)
,
Hove Hanne
(Centre for Rare Diseases, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark)
,
DeChene Elizabeth
(Division of Genomic Diagnostics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA)
,
Quinonez Shane C.
(Department of Pediatrics, Division of Genetics, Metabolism and Genomic Medicine, University of Michigan, Ann Arbor, MI, USA)
,
Colin Estelle
(Department of Biochemistry and Genetics, University Hospital Angers, Angers, France)
,
Ziegler Alban
(Department of Biochemistry and Genetics, University Hospital Angers, Angers, France)
,
Rumple Melissa
(Banner Child Neurology, Glendale, AZ, USA)
,
Jain Mahim
(Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA)
,
Jain Mahim
(Bone and Osteogenesis Imperfecta Department, Kennedy Krieger Institute, Baltimore, MD, USA)
,
Monteil Danielle
(Department of Pediatrics, Naval Medical Center Portsmouth, Portsmouth, VA, USA)
,
Roeder Elizabeth R.
(Departments of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, TX, USA)
,
Nugent Kimberly
(Departments of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, TX, USA)
,
van Haeringen Arie
(Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands)
,
Gambello Michael
(Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, USA)
,
Santani Avni
(Division of Genomic Diagnostics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA)
,
Medne Livija
(Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA)
,
Krock Bryan
(Division of Genomic Diagnostics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA)
,
Skraban Cara M.
(Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA)
,
Zackai Elaine H.
(Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA)
,
Dubbs Holly A.
(Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA)
,
Smol Thomas
(Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille, France)
,
Smol Thomas
(EA7364 RADEME (Research Team on Rare Developmental and Metabolic Diseases), Lille 2 University, Lille, France)
,
Ghoumid Jamal
(Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille, France)
,
Ghoumid Jamal
(EA7364 RADEME (Research Team on Rare Developmental and Metabolic Diseases), Lille 2 University, Lille, France)
,
Parker Michael J.
(Sheffield Children’s Hospital NHS Foundation Trust, Western Bank, Sheffield, UK)
,
Wright Michael
(Northern Genetics Service, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Institute of Human Genetics, International Centre for Life, Newcastle upon Tyne, UK)
,
Turnpenny Peter
(University of Exeter Medical School, Clinical Genetics Royal Devon & Exeter Hospital, Exeter, UK)
,
Clayton-Smith Jill
(Institute of Evolution, Systems and Genomics, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK)
,
Clayton-Smith Jill
(Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK)
,
Metcalfe Kay
(Institute of Evolution, Systems and Genomics, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK)
,
Metcalfe Kay
(Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK)
,
Kurumizaka Hitoshi
(Laboratory of Structural Biology, Graduate School of Advanced Science & Engineering, Waseda University, Tokyo, Japan)
,
Gelb Bruce D.
(Mindich Child Health and Development Institute and Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA)
,
Baris Feldman Hagit
(The Genetics Institute, Rambam Health Care Campus, Haifa, Israel)
,
Baris Feldman Hagit
(The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel)
,
Campeau Philippe M.
(Department of Pediatrics, University of Montreal and CHU Sainte-Justine, Montreal, QC, Canada)
,
Muenke Maximilian
(Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA)
,
Wade Paul A.
(Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA)
,
Lachlan Katherine
(Wessex Clinical Genetics Service, University Hospital Southampton NHS Trust. Department of Human Genetics and Genomic Medicine, Southampton University, Southampton, UK)
資料名：
Genetics in Medicine
(Genetics in Medicine)
巻： 22 号： 2 ページ： 389-397 発行年： 2020年
JST資料番号： W1813A ISSN： 1098-3600 資料種別： 逐次刊行物 (A)
記事区分： 原著論文 発行国： ドイツ (DEU) 言語： 英語 (EN)
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