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J-GLOBAL ID:201802277753610396   整理番号:18A0927077

病原性Rere変異体を有する個人における遺伝子型-表現型相関【JST・京大機械翻訳】

Genotype-phenotype correlations in individuals with pathogenic RERE variants
著者 (41件):
Jordan Valerie K.
(Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas)
Fregeau Brieana
(Department of Neurology, University of California, San Francisco, San Francisco, California)
Ge Xiaoyan
(Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas)
Ge Xiaoyan
(Baylor Genetics, Houston, Texas)
Giordano Jessica
(Institute of Genomic Medicine and Department of OB/GYN, Columbia University Medical Center, New York, New York)
Wapner Ronald J.
(Institute of Genomic Medicine and Department of OB/GYN, Columbia University Medical Center, New York, New York)
Balci Tugce B.
(Department of Genetics, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada)
Carter Melissa T.
(Department of Genetics, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada)
Bernat John A.
(Stead Family Department of Pediatrics, The University of Iowa, Iowa City, Iowa)
Moccia Amanda N.
(Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan)
Srivastava Anshika
(Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan)
Martin Donna M.
(Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan)
Martin Donna M.
(Department of Pediatrics, University of Michigan Medical School, Ann Arbor, Michigan)
Bielas Stephanie L.
(Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan)
Pappas John
(New York University School of Medicine, New York, New York)
Svoboda Melissa D.
(Department of Pediatrics, Children’s Hospital of San Antonio/Baylor College of Medicine, San Antonio, Texas)
Rio Marlene
(Laboratory of Developmental Brain Disorders, INSERM UMR 1163, Paris, France)
Rio Marlene
(Service de Genetique, Necker Enfants Malades University Hospital, APHP, Paris, France)
Boddaert Nathalie
(Laboratory of Developmental Brain Disorders, INSERM UMR 1163, Paris, France)
Boddaert Nathalie
(Pediatric Radiology, Necker Enfants Malades University Hospital, APHP, Paris, France)
Cantagrel Vincent
(Laboratory of Developmental Brain Disorders, INSERM UMR 1163, Paris, France)
Cantagrel Vincent
(Paris Descartes - Sorbonne Paris Cite University, Imagine Institute, Paris, France)
Lewis Andrea M.
(Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas)
Lewis Andrea M.
(Texas Children’s Hospital, Houston, Texas)
Scaglia Fernando
(Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas)
Scaglia Fernando
(Texas Children’s Hospital, Houston, Texas)
Undiagnosed Diseases Network
Kohler Jennefer N.
(Stanford University School of Medicine, Stanford, California)
Bernstein Jonathan A.
(Stanford University School of Medicine, Stanford, California)
Dries Annika M.
(Stanford University School of Medicine, Stanford, California)
Rosenfeld Jill A.
(Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas)
DeFilippo Colette
(Stanford Children’s Health/Lucile Packard Children’s Hospital Stanford, Palo Alto, California)
Thorson Willa
(University of Miami, Miller School of Medicine, Miami, Florida)
Yang Yaping
(Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas)
Yang Yaping
(Baylor Genetics, Houston, Texas)
Sherr Elliott H.
(Department of Neurology, University of California, San Francisco, San Francisco, California)
Bi Weimin
(Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas)
Bi Weimin
(Baylor Genetics, Houston, Texas)
Scott Daryl A.
(Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas)
Scott Daryl A.
(Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas)
Scott Daryl A.
(Texas Children’s Hospital, Houston, Texas)

資料名:
Human Mutation  (Human Mutation)

巻: 39  号:ページ: 666-675  発行年: 2018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)
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