Identification of a desmin gene mutation in scapuloperoneal syndrome

2007 ◽  
Vol 38 (01) ◽  
Author(s):  
MC Walter ◽  
P Reilich ◽  
A Huebner ◽  
D Fischer ◽  
M Vorgerd ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Scapuloperoneal Syndrome

G.P.8 08 Identification of a desmin gene mutation in scapuloperoneal syndrome type Kaeser

2006 ◽  
Vol 16 (9-10) ◽  
pp. 708-709 ◽  
Author(s):  
M.C. Walter ◽  
P. Reilich ◽  
A. Huebner ◽  
D. Fischer ◽  
M. Vorgerd ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Syndrome Type ◽  
Scapuloperoneal Syndrome

Abstract #703: An Adult Patient with Severe Hypocalciuric Hypercalcemia with Negative Casr Gene Mutation

2015 ◽  
Vol 21 ◽  
pp. 124-125
Author(s):  
Grace Kim ◽  
Michael Marchese ◽  
Hassan Shawa ◽  
Matthew Leinung ◽  
Sara Clark
Keyword(s):  
Adult Patient ◽  
Gene Mutation ◽  
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SCREENING OF FSH RECEPTOR GENE MUTATION (C566T) IN AZOOSPERMIC MEN IN JAPAN

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Vol 52 (1) ◽  
pp. 15-19 ◽  
Author(s):  
T. Ishikawa ◽  
M. Fujisawa ◽  
J. Tapanainen
Keyword(s):  
Gene Mutation ◽  
Receptor Gene ◽  
Fsh Receptor ◽  
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A frequent gene mutation associated with autosomal dominant Parkinson's disease

The Lancet ◽  
2005 ◽  
Vol 365 (9457) ◽  
pp. 412-415 ◽  
Author(s):  
A DIFONZO ◽  
C ROHE ◽  
J FERREIRA ◽  
H CHIEN ◽  
L VACCA ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Gene Mutation ◽  
Autosomal Dominant
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