在“SpringerLink电子期刊”中，命中：128条，耗时：0.0229888 秒

在所有数据库中总计命中：2,255条

2. Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome
作者：Aimee L Fenwick (1)
Jacqueline AC Goos (2)
Julia Rankin (3)
Helen Lord (4)
Tracy Lester (4)
A Jeannette M Hoogeboom (5)
Ans MW van den Ouweland (5)
Steven A Wall (6)
Irene MJ Mathijssen (2)
Andrew OM Wilkie (1) (6)

1. Weatherall Institute of Molecular Medicine ; John Radcliffe Hospital ; University of Oxford ; Headington ; Oxford ; OX3 9DS ; UK
2. Department of Plastic and Reconstructive Surgery and Hand Surgery ; Erasmus MC ; University Medical Center ; Rotterdam ; The Netherlands
3. Clinical Genetics Department ; Royal Devon and Exeter NHS Foundation Trust ; Exeter ; UK
4. Genetics Laboratories ; Oxford University Hospitals NHS Trust ; Churchill Hospital ; Oxford ; UK
5. Department of Clinical Genetics ; Erasmus MC ; University Medical Center ; Rotterdam ; The Netherlands
6. Craniofacial Unit ; Oxford University Hospitals NHS Trust ; John Radcliffe Hospital ; Oxford ; UK
刊名：BMC Medical Genetics
出版年：2014
3. RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research
作者：Rachel Thompson M.Chem. (1)
Louise Johnston Ph.D. (1)
Domenica Taruscio PhD ; M.D. (2)
Lucia Monaco Ph.D. (3)
Christophe B茅roud PharmD ; Ph.D. (4)
Ivo G. Gut Ph.D. (5)
Mats G. Hansson Ph.D. (6)
Peter-Bram A. 鈥檛 Hoen Ph.D. (7)
George P. Patrinos PhD (8)
Hugh Dawkins Ph.D. (9)
Monica Ensini Ph.D. (1)
Kurt Zatloukal M.D. (10)
David Koubi Ph.D. (11)
Emma Heslop M.Sc. (1)
Justin E. Paschall M.A. (12)
Manuel Posada Ph.D. (13)
Peter N. Robinson M.D. ; Ph.D. (14)
Kate Bushby M.D. ; F.R.C.P. (1)
Hanns Lochm眉ller Ph.D. ; M.D. (1)

1. Institute of Genetic Medicine ; MRC Centre for Neuromuscular Diseases ; Newcastle University ; London ; UK
2. Istituto Superiore di Sanit脿 ; Rome ; Italy
3. Fondazione Telethon ; Milan ; Italy
4. Aix Marseille Universit茅 ; INSERM ; GMGF UMR_S 910 ; 13385 ; Marseille ; France
5. Centre Nacional d鈥橝n脿lisi Gen貌mica ; Barcelona ; Spain
6. Uppsala University ; Uppsala ; Sweden
7. Leiden University Medical Centre ; Leiden ; Netherlands
8. University of Patras ; Patras ; Greece
9. Office of Population Health Genomics ; Department of Health Western Australia ; Perth ; Australia
10. Medical University of Graz ; Graz ; Austria
11. Finovatis ; Lyon ; France
12. European Molecular Biology Laboratory ; European Bioinformatics Institute (EMBL-EBI) ; Hinxton ; UK
13. Instituto de Salud Carlos III ; Instituto de Investigaci贸n de Enfermedades Raras ; CIBERER ; Madrid ; Spain
14. Institute for Medical Genetics and Human Genetics ; Charit茅-Universit盲tsmedizin ; Berlin ; Germany
刊名：Journal of General Internal Medicine
出版年：2014
4. Imaging vascular function for early stage clinical trials using dynamic contrast-enhanced magnetic resonance imaging
作者：M. O. Leach (1) Martin.Leach@icr.ac.uk
B. Morgan (2) bruno.morgan@uhl-tr.nhs.uk
P. S. Tofts (3) p.s.tofts@bsms.ac.uk
D. L. Buckley (4) D.L.Buckley@leeds.ac.uk
W. Huang (5) huangwe@ohsu.edu
M. A. Horsfield (6) mah5@leicester.ac.uk
T. L. Chenevert (7) tlchenev@umich.edu
D. J. Collins (8) David.Collins@icr.ac.uk
A. Jackson (9) alan.jackson@manchester.ac.uk
D. Lomas (10) djl15@radiol.cam.ac.uk
B. Whitcher (11) bwhitcher@mango-solutions.com
L. Clarke (12) lclarke@mail.nih.gov
R. Plummer (13) Ruth.Plummer@newcastle.ac.uk
I. Judson (14) Ian.Judson@icr.ac.uk
R. Jones (15) r.jones@beatson.gla.ac.uk
R. Alonzi (16) robertoalonzi@btinternet.com
T. Brunner (17) Thomas.brunner@rob.ox.ac.uk
D. M. Koh (18) Dow-Mu.Koh@icr.ac.uk
P. Murphy (19) Philip.S.Murphy@gsk.com
J. C. Waterton (20) John.Waterton@astrazeneca.com
G. Parker (21) Geoff.parker@manchester.ac.uk
M. J. Graves (22) mjg40@radiol.cam.ac.uk
T. W. J. Scheenen (23) T.Scheenen@rad.umcn.nl
T. W. Redpath (24) t.redpath@abdn.ac.uk
M. Orton (1) matthew.orton@icr.ac.uk
G. Karczmar (25) gskarczm@uchicago.edu
H. Huisman (26) h.huisman@rad.umcn.nl
J. Barentsz (27) j.barentsz@rad.umcn.nl
A. Padhani (28) anwar.padhani@stricklandscanner.org.uk
on behalf of the Experimental Cancer Medicine Centres Imaging Network Steering Committee
刊名：European Radiology
出版年：2012
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