Clinical Variabity of Patients Associated with RDH5 Gene Mutation

2001 ◽  
pp. 23-28
Author(s):  
Yuko Wada ◽  
Toshiaki Abe ◽  
Miyuki Kawamura ◽  
Makoto Tamai
Keyword(s):  
Gene Mutation

Gene Mutation Associated With Miscarriage, Found More Common in PCOS

Ob Gyn News ◽  
2005 ◽  
Vol 40 (14) ◽  
pp. 11
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HEIDI SPLETE
Keyword(s):  
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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 ◽  
Casr Gene

SCREENING OF FSH RECEPTOR GENE MUTATION (C566T) IN AZOOSPERMIC MEN IN JAPAN

2006 ◽  
Vol 52 (1) ◽  
pp. 15-19 ◽  
Author(s):  
T. Ishikawa ◽  
M. Fujisawa ◽  
J. Tapanainen
Keyword(s):  
Gene Mutation ◽  
Receptor Gene ◽  
Fsh Receptor ◽  
Fsh Receptor Gene

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

Severe Epileptic Encephalopathy in Siblings due to a Novel Heterozygous CACNA1A Gene Mutation

2019 ◽  
Author(s):  
Dilbar Mammadova ◽  
Cornelia Kraus ◽  
Thomas Leis ◽  
Regina Trollmann
Keyword(s):  
Gene Mutation ◽  
Epileptic Encephalopathy ◽  
Cacna1a Gene
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