作者： Nic Robertson ; Karin R. Engelhardt ; Neil V. Morgan…

关键词：ICOS ; primary immunodeficiency ; common variable immunodeficiency ; CVID

刊名：Journal of Clinical Immunology

出版年：2015

作者：Neil V Morgan (1) (9)
Jane L Hartley (1) (2)
Kenneth DR Setchell (3)
Michael A Simpson (4)
Rachel Brown (5)
Louise Tee (1)
Sian Kirkham (6)
Shanaz Pasha (1)
Richard C Trembath (4)
Eamonn R Maher (1) (7)
Paul Gissen (8)
Deirdre A Kelly (2)

关键词：Bile acid metabolism ; Diarrhoea ; Gene mutation ; Whole exome sequencing ; Paediatric liver disease

刊名：Orphanet Journal of Rare Diseases

出版年：2013

作者：Arthur B McKie (1)
Atif Alsaedi (2)
Julie Vogt (3)
Kyra E Stuurman (4)
Marjan M Weiss (4)
Hassan Shakeel (1)
Louise Tee (2)
Neil V Morgan (2)
Peter G J Nikkels (8)
Gijs van Haaften (6)
Soo-Mi Park (5)
Jasper J van der Smagt (6)
Marianna Bugiani (7)
Eamonn R Maher (1) (2) (5) (9)

1. Department of Medical Genetics ; University of Cambridge and NIHR Cambridge Biomedical Research Centre ; Cambridge Biomedical Campus ; Cambridge ; CB2 0QQ ; UK
2. Centre for Rare Diseases and Personalised Medicine ; University of Birmingham ; Edgbaston ; Birmingham ; B15 2TT ; UK
3. West Midlands Regional Genetics Service ; Birmingham Women鈥檚 Hospital ; Birmingham ; B15 2TG ; UK
4. Department of Clinical Genetics ; VU University Medical Center ; Amsterdam ; The Netherlands
8. Department of Pathology ; University Medical Center Utrecht ; Utrecht ; The Netherlands
6. Department of Medical Genetics ; University Medical Center Utrecht ; University of Utrecht ; Utrecht ; The Netherlands
5. Department of Clinical Genetics ; Addenbrooke鈥檚 Treatment Centre ; Cambridge University Hospitals NHS Foundation Trust ; Hills Road ; Cambridge ; CB2 0QQ ; UK
7. Department of Pathology ; VU University Medical Center ; Amsterdam ; the Netherlands
9. Department of Medical Genetics ; School of Clinical Medicine ; University of Cambridge ; Addenbrooke鈥檚 Treatment Centre ; Cambridge Biomedical Campus ; Box 238 ; Cambridge ; CB2 0QQ ; United Kingdom

关键词：Multiple pterygium syndrome ; Foetal akinesia ; RYR1 mutations ; Myopathy

刊名：Acta Neuropathologica Communications

出版年：2014

作者：Michelle M Simon (1)
Simon Greenaway (1)
Jacqueline K White (2)
Helmut Fuchs (3)
Valérie Gailus-Durner (3)
Sara Wells (1)
Tania Sorg (6)
Kim Wong (2)
Elodie Bedu (6)
Elizabeth J Cartwright (7)
Romain Dacquin (9)
Sophia Djebali (9)
Jeanne Estabel (2)
Jochen Graw (4)
Neil J Ingham (2)
Ian J Jackson (10)
Andreas Lengeling (11)
Silvia Mandillo (12)
Jacqueline Marvel (9)
Hamid Meziane (6)
Frédéric Preitner (13)
Oliver Puk (4)
Michel Roux (6)
David J Adams (2)
Sarah Atkins (1)
Abdel Ayadi (6)
Lore Becker (3)
Andrew Blake (1)
Debra Brooker (1)
Heather Cater (1)
Marie-France Champy (6)
Roy Combe (6)
Petr Danecek (2)
Armida di Fenza (1)
Hilary Gates (1)
Anna-Karin Gerdin (2)
Elisabetta Golini (12)
John M Hancock (1)
Wolfgang Hans (3)
Sabine M H?lter (3)
Tertius Hough (1)
Pierre Jurdic (9)
Thomas M Keane (2)
Hugh Morgan (1)
Werner Müller (8)
Frauke Neff (5)
George Nicholson (1)
Bastian Pasche (14)
Laura-Anne Roberson (2)
Jan Rozman (3)
Mark Sanderson (2)
Luis Santos (1)
Mohammed Selloum (6)
Carl Shannon (2)
Anne Southwell (1)
Glauco P Tocchini-Valentini (12)
Valerie E Vancollie (2)
Henrik Westerberg (1)
Wolfgang Wurst (16) (17) (18) (4)
Min Zi (7)
Binnaz Yalcin (15) (6)
Ramiro Ramirez-Solis (2)
Karen P Steel (2)
Ann-Marie Mallon (1)
Martin Hrabě de Angelis (3)
Yann Herault (6)
Steve DM Brown (1)

关键词：Mouse inbred lines ; sequence variation ; mouse phenotyping ; gene knockout ; C57BL/6

刊名：Genome Biology

出版年：2013

作者：Minerva M Carrasquillo (1)
Olivia Belbin (1) (12) (2)
Talisha A Hunter (1)
Li Ma (1)
Gina D Bisceglio (1)
Fanggeng Zou (1)
Julia E Crook (3)
V Shane Pankratz (4)
Sigrid B Sando (5) (6)
Jan O Aasly (5) (6)
Maria Barcikowska (7)
Zbigniew K Wszolek (8)
Dennis W Dickson (1)
Neill R Graff-Radford (1) (8)
Ronald C Petersen (10) (9)
Peter Passmore (11)
Kevin Morgan (2)
Steven G Younkin (1)

刊名：Molecular Neurodegeneration

出版年：2011

作者： Neil V. Morgan ; Paul Gissen ; Saghira Sharif ; Laura Baumber ; Joan Sutherland ; Deirdre A. Kelly ; Kingi Aminu ; Christopher P. Bennett ; Geoffrey C. Woods and Robert F. Mueller ; et al.

刊名：Human Genetics

出版年：2002

作者： Merry L. Tetef ; Kim A. Margolin ; James H. Doroshow ; Steven Akman ; Lucille A. Leong ; Robert J. Morgan Jr. ; James W. Raschko ; Neil Slatkin ; George Somlo and Jeffrey A. Longmate ; et al.

关键词：Key words Methotrexate ; Leptomeningeal carcinomatosis

刊名：Cancer Chemotherapy and Pharmacology

出版年：2000

作者：Neil V. Morgan ; Paul Gissen ; Saghira Sharif ; Laura Baumber ; Joan Sutherland ; Deirdre A. Kelly ; Kingi Aminu ; Christopher P. Bennett ; Geoffrey C. Woods and Robert F. Mueller ; et al.

刊名：Human Genetics

出版年：2002

作者：Merry L. Tetef ; Kim A. Margolin ; James H. Doroshow ; Steven Akman ; Lucille A. Leong ; Robert J. Morgan Jr. ; James W. Raschko ; Neil Slatkin ; George Somlo and Jeffrey A. Longmate ; et al.

关键词：Key words Methotrexate ; Leptomeningeal carcinomatosis

刊名：Cancer Chemotherapy and Pharmacology

出版年：2000