文献
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)