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J-GLOBAL ID：201802284123394288 整理番号：18A0255799

EBF3擾乱転写プロファイルの変異と原因知的障害,運動失調,および顔異形【Powered by NICT】

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

著者 (38件)：

Harms Frederike Leonie

(Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany)

Girisha Katta M.

(Department of Medical Genetics, Kasturba Medical College, Manipal University, 576104 Manipal, India)

Hardigan Andrew A.

(HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA)

Hardigan Andrew A.

(Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA)

Kortuem Fanny

(Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany)

Shukla Anju

(Department of Medical Genetics, Kasturba Medical College, Manipal University, 576104 Manipal, India)

Alawi Malik

(Bioinformatics Service Facility, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany)

Alawi Malik

(Center for Bioinformatics, University of Hamburg, 20246 Hamburg, Germany)

Alawi Malik

(Virus Genomics, Heinrich Pette Institute, Leibniz Institute for Experimental Virology, 20246 Hamburg, Germany)

Dalal Ashwin

(Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, 500001 Hyderabad, Telangana, India)

Brady Lauren

(Department of Pediatrics, McMaster University Medical Center, Hamilton, ON L8N 3Z5, Canada)

Tarnopolsky Mark

(Department of Pediatrics, McMaster University Medical Center, Hamilton, ON L8N 3Z5, Canada)

Bird Lynne M.

(Department of Pediatrics, University of California, San Diego, San Diego, CA 92123, USA)

Bird Lynne M.

(Division of Genetics/Dysmorphology, Rady Children’s Hospital San Diego, San Diego, CA 92123, USA)

Ceulemans Sophia

(Division of Genetics/Dysmorphology, Rady Children’s Hospital San Diego, San Diego, CA 92123, USA)

Bebin Martina

(Department of Neurology, University of Alabama at Birmingham, Birmingham, AL35294, USA)

Bowling Kevin M.

(HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA)

Hiatt Susan M.

(HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA)

Lose Edward J.

(Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA)

Primiano Michelle

(Department of Pediatrics and Medicine, Columbia University, New York, NY 10032, USA)

Chung Wendy K.

(Department of Pediatrics and Medicine, Columbia University, New York, NY 10032, USA)

Juusola Jane

(GeneDx, Gaithersburg, MD 20877, USA)

Akdemir Zeynep C.

(Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA)

Bainbridge Matthew

(Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA)

Charng Wu-Lin

(Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA)

Drummond-Borg Margaret

(Cook Children’s Genetic Clinic, Fort Worth, TX 76102, USA)

Eldomery Mohammad K.

(Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA)

El-Hattab Ayman W.

(Division of Clinical Genetics and Metabolic Disorders, Department of Pediatrics, Tawam Hospital, 15258 Al-Ain, United Arab Emirates)

Saleh Mohammed A.M.

(Section of Medical Genetics, Children’s Hospital, King Fahad Medical City, 11564 Riyadh, Saudi Arabia)

Bezieau Stephane

(Service de Genetique Medicale, Centre Hospitalier Universitaire Nantes, 44093 Nantes Cedex 1, France)

Cogne Benjamin

(Service de Genetique Medicale, Centre Hospitalier Universitaire Nantes, 44093 Nantes Cedex 1, France)

Isidor Bertrand

(Service de Genetique Medicale, Centre Hospitalier Universitaire Nantes, 44093 Nantes Cedex 1, France)

Isidor Bertrand

(INSERM UMR-S 957, 44035 Nantes, France)

Kuery Sebastien

(Service de Genetique Medicale, Centre Hospitalier Universitaire Nantes, 44093 Nantes Cedex 1, France)

Lupski James R.

(Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA)

Myers Richard M.

(HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA)

Cooper Gregory M.

(HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA)

Kutsche Kerstin

(Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany)

資料名：

American Journal of Human Genetics (American Journal of Human Genetics)

巻： 100 号： 1 ページ： 117-127 発行年： 2017年
JST資料番号： B0360B ISSN： 0002-9297 資料種別：逐次刊行物 (A)
記事区分：原著論文発行国：オランダ (NLD) 言語：英語 (EN)

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