New Pattern of Sutural Synostosis Associated With TWIST Gene Mutation and Saethre-Chotzen Syndrome

2015 ◽  
Vol 26 (5) ◽  
pp. 1564-1567 ◽  
Author(s):  
Youssef Tahiri ◽  
Nicholas Bastidas ◽  
Donna M. McDonald-McGinn ◽  
Craig Birgfeld ◽  
Elaine H. Zackai ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Twist Gene

TWIST gene mutation in a patient with radial aplasia and craniosynostosis: Further evidence for heterogeneity of Baller-Gerold syndrome

1999 ◽  
Vol 82 (2) ◽  
pp. 170-176 ◽  
Author(s):  
Karen W. Gripp ◽  
Catherine A. Stolle ◽  
Livija Celle ◽  
Donna M. McDonald-McGinn ◽  
Linton A. Whitaker ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Twist Gene ◽  
Radial Aplasia

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 ◽  
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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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