文献
J-GLOBAL ID:201502210288712179
整理番号:15A1281223
劣性遺伝性発達障害:4,125家系での遺伝子型と表現型の確率的なマッチングにより4つの劣性遺伝性発達障害を発見
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
著者 (40件):
AKAWI Nadia
(Wellcome Trust Genome Campus, Hinxton, GBR)
,
MCRAE Jeremy
(Wellcome Trust Genome Campus, Hinxton, GBR)
,
CLAYTON Stephen
(Wellcome Trust Genome Campus, Hinxton, GBR)
,
FITZGERALD Tomas W
(Wellcome Trust Genome Campus, Hinxton, GBR)
,
GERETY Sebastian S
(Wellcome Trust Genome Campus, Hinxton, GBR)
,
JONES Wendy D
(Wellcome Trust Genome Campus, Hinxton, GBR)
,
KING Daniel
(Wellcome Trust Genome Campus, Hinxton, GBR)
,
LELLIOTT Chris
(Wellcome Trust Genome Campus, Hinxton, GBR)
,
LORD Jenny
(Wellcome Trust Genome Campus, Hinxton, GBR)
,
PIOMBO Virginia
(Wellcome Trust Genome Campus, Hinxton, GBR)
,
PRIGMORE Elena
(Wellcome Trust Genome Campus, Hinxton, GBR)
,
RAJAN Diana
(Wellcome Trust Genome Campus, Hinxton, GBR)
,
SIFRIM Alejandro
(Wellcome Trust Genome Campus, Hinxton, GBR)
,
SWAMINATHAN Ganesh J
(Wellcome Trust Genome Campus, Hinxton, GBR)
,
WRIGHT Caroline F
(Wellcome Trust Genome Campus, Hinxton, GBR)
,
BARRETT Jeffrey C
(Wellcome Trust Genome Campus, Hinxton, GBR)
,
HURLES Matthew E
(Wellcome Trust Genome Campus, Hinxton, GBR)
,
ANSARI Morad
(Univ. Edinburgh, Edinburgh, GBR)
,
FITZPATRICK David R
(Univ. Edinburgh, Edinburgh, GBR)
,
BALASUBRAMANIAN Meena
(Sheffield Children’s National Health Serv. (NHS) Trust, Sheffield, GBR)
,
BLYTH Moira
(Chapel Allerton Hospital, Leeds, GBR)
,
HOBSON Emma
(Chapel Allerton Hospital, Leeds, GBR)
,
SMITH Audrey
(Chapel Allerton Hospital, Leeds, GBR)
,
BRADY Angela F
(London North West Healthcare NHS Trust, Harrow, GBR)
,
COLE Trevor
(Birmingham Women’s Hospital, Birmingham, GBR)
,
MCMULLAN Dominic
(Birmingham Women’s Hospital, Birmingham, GBR)
,
WHITWORTH James
(Birmingham Women’s Hospital, Birmingham, GBR)
,
DESHPANDE Charu
(Guy’s Hospital, London, GBR)
,
FOULDS Nicola
(Princess Anne Hospital, Southampton, GBR)
,
FOULDS Nicola
(Salisbury District Hospital, Salisbury, GBR)
,
FOULDS Nicola
(Univ. Southampton, Southampton, GBR)
,
FRANCIS Richard
(Univ. Pittsburgh, Pennsylvania, USA)
,
GABRIEL George
(Univ. Pittsburgh, Pennsylvania, USA)
,
KLENA Nikolai
(Univ. Pittsburgh, Pennsylvania, USA)
,
LO Cecilia W
(Univ. Pittsburgh, Pennsylvania, USA)
,
GOODSHIP Judith
(International Centre for Life, Newcastle upon Tyne, GBR)
,
JOSS Shelagh
(Yorkhill Hospital, Glasgow, GBR)
,
O’REGAN Mary
(Yorkhill Hospital, Glasgow, GBR)
,
KUMAR Ajith
(Great Ormond Street Hospital, London, GBR)
,
LEES Melissa
(Great Ormond Street Hospital, London, GBR)
資料名:
Nature Genetics
(Nature Genetics)
巻:
47
号:
11
ページ:
1363-1369
発行年:
2015年11月
JST資料番号:
W0430A
ISSN:
1061-4036
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)