文献
J-GLOBAL ID:201802221544435763
整理番号:18A1192729
Rett症候群におけるMECP2変異-既存データベース内の遺伝的および表現型データの現在の範囲の概観【JST・京大機械翻訳】
MECP2 variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databases
著者 (13件):
Townend Gillian S.
(Rett Expertise Centre Netherlands - GKC, Maastricht University Medical Center, Maastricht, The Netherlands)
,
Ehrhart Friederike
(Rett Expertise Centre Netherlands - GKC, Maastricht University Medical Center, Maastricht, The Netherlands)
,
Ehrhart Friederike
(Department of Bioinformatics - BiGCaT, NUTRIM, Maastricht University, Maastricht, The Netherlands)
,
van Kranen Henk J.
(Rett Expertise Centre Netherlands - GKC, Maastricht University Medical Center, Maastricht, The Netherlands)
,
van Kranen Henk J.
(Institute for Public Health Genomics, Maastricht University, Maastricht, The Netherlands)
,
Wilkinson Mark
(Center for Plant Biotechnology and Genomics, Universidad Politecnica de Madrid, Madrid, Spain)
,
Jacobsen Annika
(Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands)
,
Roos Marco
(Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands)
,
Willighagen Egon L.
(Department of Bioinformatics - BiGCaT, NUTRIM, Maastricht University, Maastricht, The Netherlands)
,
van Enckevort David
(Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands)
,
Evelo Chris T.
(Rett Expertise Centre Netherlands - GKC, Maastricht University Medical Center, Maastricht, The Netherlands)
,
Evelo Chris T.
(Department of Bioinformatics - BiGCaT, NUTRIM, Maastricht University, Maastricht, The Netherlands)
,
Curfs Leopold M. G.
(Rett Expertise Centre Netherlands - GKC, Maastricht University Medical Center, Maastricht, The Netherlands)
資料名:
Human Mutation
(Human Mutation)
巻:
39
号:
7
ページ:
914-924
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)