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2. Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome
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
刊名:Acta Neuropathologica Communications
出版年:2014
3. Rs11892031[A] on chromosome 2q37 in an intronic region of the UGT1A locus is associated with urinary bladder cancer risk
作者:Silvia Selinski (1)
Marie-Louise Lehmann (1)
Meinolf Blaszkewicz (1)
Daniel Ovsiannikov (2)
Oliver Moormann (2)
Christoph Guballa (3)
Alexander Kress (3)
Michael C. Tru? (3)
Holger Gerullis (4)
Thomas Otto (4)
Dimitri Barski (5)
Günter Niegisch (5)
Peter Albers (5)
Sebastian Frees (6)
Walburgis Brenner (6)
Joachim W. Thüroff (6)
Miriam Angeli-Greaves (7)
Thilo Seidel (8)
Gerhard Roth (8)
Frank Volkert (8)
Rainer Ebbinghaus (9)
Hans M. Prager (9)
Hermann M. Bolt (1)
Michael Falkenstein (1)
Anna Zimmermann (1)
Torsten Klein (10)
Thomas Reckwitz (3)
Hermann C. Roemer (1) (11)
Mark Hartel (12)
Wobbeke Weistenh?fer (1) (13)
Wolfgang Sch?ps (14)
S. Adibul Hassan Rizvi (15)
Muhammad Aslam (16)
Gergely Bánfi (17)
Imre Romics (17)
Katja Ickstadt (18)
Jan G. Hengstler (1)
Klaus Golka (1)
刊名:Archives of Toxicology
出版年:2012
4. Urinary bladder cancer risk in relation to a single nucleotide polymorphism (rs2854744) in the insulin-like growth factor-binding protein-3 (IGFBP3) gene
作者:Silvia Selinski (1)
Marie-Louise Lehmann (1)
Meinolf Blaszkewicz (1)
Daniel Ovsiannikov (2)
Oliver Moormann (2)
Christoph Guballa (3)
Alexander Kress (3)
Michael C. Tru? (3)
Holger Gerullis (4)
Thomas Otto (4)
Dimitri Barski (5)
Günter Niegisch (5)
Peter Albers (5)
Sebastian Frees (6)
Walburgis Brenner (6)
Joachim W. Thüroff (6)
Miriam Angeli-Greaves (7)
Thilo Seidel (8)
Gerhard Roth (8)
Frank Volkert (8)
Rainer Ebbinghaus (9)
Hans-Martin Prager (9)
Cordula Lukas (9)
Hermann M. Bolt (1)
Michael Falkenstein (1)
Anna Zimmermann (1)
Torsten Klein (10)
Thomas Reckwitz (3)
Hermann C. Roemer (1) (11)
Mark Hartel (12)
Wobbeke Weistenh?fer (1) (13)
Wolfgang Sch?ps (14)
S. Adibul Hassan Rizvi (15)
Muhammad Aslam (16)
Gergely Bánfi (17)
Imre Romics (17)
Katja Ickstadt (18)
Jan G. Hengstler (1)
Klaus Golka (1)
刊名:Archives of Toxicology
出版年:2012
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