文献
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:
5
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)