文献
J-GLOBAL ID:201402243974797846
整理番号:14A1366739
コルネリアドランゲ症候群(CdLS)における遺伝的異質性,モザイク現象が観察および予測された程度におけるCdLS様表現型
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
著者 (40件):
ANSARI Morad
(Univ. of Edinburgh, Edinburgh, GBR)
,
POKE Gemma
(Univ. of Edinburgh, Edinburgh, GBR)
,
FERRY Quentin
(Univ. of Oxford, Oxford, GBR)
,
WILLIAMSON Kathleen
(Univ. of Edinburgh, Edinburgh, GBR)
,
ALDRIDGE Roland
(Univ. of Edinburgh, Edinburgh, GBR)
,
MEYNERT Alison M
(Univ. of Edinburgh, Edinburgh, GBR)
,
BENGANI Hemant
(Univ. of Edinburgh, Edinburgh, GBR)
,
CHAN Cheng Yee
(Univ. of Edinburgh, Edinburgh, GBR)
,
KAYSERILI Huelya
(Istanbul Univ., Istanbul, TUR)
,
AVCI Sahin
(Istanbul Univ., Istanbul, TUR)
,
HENNEKAM Raoul C M
(Univ. of Amsterdam, Amsterdam, NLD)
,
LAMPE Anne K
(Western General Hospital, Edinburgh, GBR)
,
REDEKER Egbert
(Univ. of Amsterdam, Amsterdam, NLD)
,
HOMFRAY Tessa
(St George’s Univ. of London, London, GBR)
,
ROSS Alison
(Clinical Genetics Centre, Aberdeen, GBR)
,
SMELAND Marie Falkenberg
(Univ. Hospital of Northern Norway, Tromso, NOR)
,
MANSOUR Sahar
(St George’s Univ. of London, London, GBR)
,
PARKER Michael J
(NHS Foundation Trust, Sheffield, GBR)
,
COOK Jacqueline A
(NHS Foundation Trust, Sheffield, GBR)
,
SPLITT Miranda
(Newcastle upon Tyne Hospitals, Newcastle upon Tyne, GBR)
,
FISHER Richard B
(Newcastle upon Tyne Hospitals, Newcastle upon Tyne, GBR)
,
FRYER Alan
(Alder Hay Children’s Hospital, Liverpool, GBR)
,
MAGEE Alex C
(Northern Ireland Regional Genetics Serv. (NIRGS), Belfast, GBR)
,
WILKIE Andrew
(Univ. of Oxford, Oxford, GBR)
,
BARNICOAT Angela
(Great Ormond Street Hospital, London, GBR)
,
BRADY Angela F
(North West London Hospitals NHS Trust, Harrow, GBR)
,
COOPER Nicola S
(Birmingham Women’s Hospital, West Midlands, GBR)
,
MERCER Catherine
(Princess Anne Hospital, Southampton, GBR)
,
DESHPANDE Charu
(Guy’s and St Thomas’ NHS Foundation Trust, London, GBR)
,
BENNETT Christopher P
(Yorkshire Regional Genetics Serv., Leeds, GBR)
,
PILZ Daniela T
(Univ. Hospital of Wales, Cardiff, GBR)
,
RUDDY Deborah
(Guy’s and St Thomas’ NHS Foundation Trust, London, GBR)
,
CILLIERS Deirdre
(Churchill Hospital Old Road, Oxford, GBR)
,
JOHNSON Diana S
(NHS Foundation Trust, Sheffield, GBR)
,
JOSIFOVA Dragana
(Guy’s and St Thomas’ NHS Foundation Trust, London, GBR)
,
ROSSER Elisabeth
(Great Ormond Street Hospital, London, GBR)
,
THOMPSON Elizabeth M
,
WAKELING Emma
(North West London Hospitals NHS Trust, Harrow, GBR)
,
KINNING Esther
,
STEWART Fiona
(Northern Ireland Regional Genetics Serv. (NIRGS), Belfast, GBR)
資料名:
Journal of Medical Genetics
(Journal of Medical Genetics)
巻:
51
号:
10
ページ:
659-668
発行年:
2014年10月
JST資料番号:
T0190A
ISSN:
0022-2593
資料種別:
逐次刊行物 (A)
発行国:
イギリス (GBR)
言語:
英語 (EN)