scholarly journals Novel PTCH1 Gene Mutation in a Patient with Gorlin–Goltz Syndrome

2019 ◽  
Vol 31 (Suppl) ◽  
pp. S10
Author(s):  
Emin Ozlu ◽  
Ayse Serap Karadag ◽  
Ibrahim Akalın ◽  
Gozde Yesil ◽  
Sarenur Yılmaz ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Goltz Syndrome ◽  
Ptch1 Gene

Novel PTCH1 Gene Mutation in Nevoid Basal Cell Carcinoma Syndrome

2018 ◽  
Vol 29 (3) ◽  
pp. e252-e255
Author(s):  
Yookyeong Carolyn Sim ◽  
Gu-Hwan Kim ◽  
Sung-Weon Choi ◽  
Kang-Min Ahn
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Gene Mutation ◽  
Basal Cell ◽  
Ptch1 Gene

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
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