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Shih-hsin Kan
Shih-hsin Kan
John Radcliffe Hospital
Genetics
Biology
HOXD13
Mutation
Fibroblast growth factor receptor 1
7
Papers
561
Citations
0.01
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Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery
2009
Journal of Medical Genetics
Dominic Furniss
Shih-hsin Kan
Indira B. Taylor
David W. Johnson
Paul Critchley
Henk Giele
Andrew O.M. Wilkie
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Citations (30)
An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations
2003
American Journal of Medical Genetics Part A
Shih-hsin Kan
David Johnson
Henk Giele
Andrew O.M. Wilkie
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Citations (27)
A missense mutation (I314L) in the homeodomain of HOXD13 results in both gain- and loss of DNA binding activity.
2002
American Journal of Human Genetics
Shih-hsin Kan
D. Johnson
H. Giele
Wilkie Aom.
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Mutation in the IgII domain of FGFR2 causes the eponymous form of Pfeiffer syndrome.
2001
American Journal of Human Genetics
Shih-hsin Kan
N Elanko
Twigg Srf.
L R Cornejo-Roidan
M Muenke
Wilkie Aom.
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