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J-GLOBAL ID：201902249777408198 整理番号：19A2206356

NotchリガンドDLL1のハプロ不全は可変性神経発達障害を引き起こす【JST・京大機械翻訳】

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders

著者 (48件)：

Fischer-Zirnsak Bjorn

(Charite - Universitaetsmedizin Berlin, Berlin 13353, Germany)

Segebrecht Lara

(Charite - Universitaetsmedizin Berlin, Berlin 13353, Germany)

Segebrecht Lara

(Berlin Institute of Health (BIH), Berlin 10117, Germany)

Schubach Max

(Charite - Universitaetsmedizin Berlin, Berlin 13353, Germany)

Schubach Max

(Berlin Institute of Health (BIH), Berlin 10117, Germany)

Charles Perrine

(Department of Genetics, Assistance Publique - Hopitaux de Paris, Hopital Pitie-Salpetriere, Paris 75013, France)

Alderman Emily

(Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada)

Brown Kathleen

(Department of Pediatrics, The Children’s Hospital, University of Colorado School of Medicine, Aurora, CO 80045, USA)

Cadieux-Dion Maxime

(Center for Pediatric Genomic Medicine, Children’s Mercy Hospital, Kansas City, MO 64108, USA)

Cadieux-Dion Maxime

(Department of Pathology and Laboratory Medicine, Children’s Mercy Hospitals, Kansas City, MO 64108, USA)

Cartwright Tracy

(Neuroscape Center, Departments of Neurology, Pediatrics, Physiology, Radiology, and Psychiatry, University of California, San Francisco, CA 94158, USA)

Chen Yanmin

(GeneDx, Gaithersburg, MD 20877, USA)

Costin Carrie

(Akron Children’s Hospital, Akron, OH 44302, USA)

Fehr Sarah

(Praxis fuer Humangenetik Tuebingen, Tuebingen 72076, Germany)

Fitzgerald Keely M.

(Division of Child Neurology, Department of Pediatrics, Children’s Mercy Hospital & Clinics, Kansas City, MO 64108, USA)

Fitzgerald Keely M.

(University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA)

Fleming Emily

(Division of Clinical Genetics, Children’s Mercy Hospital & Clinics, Kansas City, MO 64108, USA)

Foss Kimberly

(Division of Genetic Medicine, Seattle Children’s Hospital, Seattle, WA 98105, USA)

Ha Thoa

(Division of Genetics, Department Pediatrics, University of California, San Francisco, CA 94143-2711, USA)

Hildebrand Gabriele

(Charite - Universitaetsmedizin Berlin, Berlin 13353, Germany)

Horn Denise

(Charite - Universitaetsmedizin Berlin, Berlin 13353, Germany)

Liu Shuxi

(GeneDx, Gaithersburg, MD 20877, USA)

Marco Elysa J.

(Cortica Healthcare, San Rafael, CA 94903, USA)

McDonald Marie

(Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27710, USA)

McWalter Kirsty

(GeneDx, Gaithersburg, MD 20877, USA)

Race Simone

(Division of Biochemical Genetics, Department of Pediatrics, University of British Columbia, BC Children’s Hospital, Vancouver, BC V6H 3N1, Canada)

Rush Eric T.

(Division of Clinical Genetics, Children’s Mercy Hospital & Clinics, Kansas City, MO 64108, USA)

Si Yue

(GeneDx, Gaithersburg, MD 20877, USA)

Saunders Carol

(Center for Pediatric Genomic Medicine, Children’s Mercy Hospital, Kansas City, MO 64108, USA)

Saunders Carol

(Department of Pathology and Laboratory Medicine, Children’s Mercy Hospitals, Kansas City, MO 64108, USA)

Saunders Carol

(University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA)

Slavotinek Anne

(Division of Genetics, Department Pediatrics, University of California, San Francisco, CA 94143-2711, USA)

Stockler-Ipsiroglu Sylvia

(Division of Biochemical Genetics, Department of Pediatrics, University of British Columbia, BC Children’s Hospital, Vancouver, BC V6H 3N1, Canada)

Telegrafi Aida

(GeneDx, Gaithersburg, MD 20877, USA)

Thiffault Isabelle

(Center for Pediatric Genomic Medicine, Children’s Mercy Hospital, Kansas City, MO 64108, USA)

Thiffault Isabelle

(Department of Pathology and Laboratory Medicine, Children’s Mercy Hospitals, Kansas City, MO 64108, USA)

Thiffault Isabelle

(University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA)

Torti Erin

(GeneDx, Gaithersburg, MD 20877, USA)

Tsai Anne Chun-hui

(Department of Pediatrics, The Children’s Hospital, University of Colorado School of Medicine, Aurora, CO 80045, USA)

Tsai Anne Chun-hui

(Section of Genetics, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA)

Wang Xin

(GeneDx, Gaithersburg, MD 20877, USA)

Zafar Muhammad

(Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27710, USA)

Keren Boris

(Department of Genetics, Assistance Publique - Hopitaux de Paris, Hopital Pitie-Salpetriere, Paris 75013, France)

Kornak Uwe

(Charite - Universitaetsmedizin Berlin, Berlin 13353, Germany)

Boerkoel Cornelius F.

(Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada)

Mirzaa Ghayda

(Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, WA 98101, USA)

Mirzaa Ghayda

(Department of Pediatrics, University of Washington, Seattle, WA 98195, USA)

Ehmke Nadja

(Charite - Universitaetsmedizin Berlin, Berlin 13353, Germany)

資料名：

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

巻： 105 号： 3 ページ： 631-639 発行年： 2019年
JST資料番号： B0360B ISSN： 0002-9297 資料種別：逐次刊行物 (A)
記事区分：短報発行国：オランダ (NLD) 言語：英語 (EN)

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