scholarly journals The First Turkish Family with Skeletal Abnormality and Novel NPR2 Gene Mutation

2020 ◽  
Vol 28 (4) ◽  
pp. 288-291
Author(s):  
Nadide Cemre RANDA
Keyword(s):  
Gene Mutation ◽  
Skeletal Abnormality ◽  
Turkish Family

scholarly journals Cytogenetic Analysis and Examination of SOS1 Gene Mutation in a Turkish Family with Hereditary Gingival Fibromatosis

2009 ◽  
Vol 18 (3) ◽  
pp. 131-134 ◽  
Author(s):  
Davut Pehlivan ◽  
Shinichi Abe ◽  
Sukru Ozturk ◽  
Kivanc Bektas Kayhan ◽  
Esra Gunduz ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Cytogenetic Analysis ◽  
Turkish Family ◽  
Gingival Fibromatosis

A novel TNFRSF1 gene mutation in a Turkish family: a report of three cases

2010 ◽  
Vol 32 (S1) ◽  
pp. 83-85 ◽  
Author(s):  
Fulya Cosan ◽  
Ayten Yazici ◽  
Barış Yılmazer ◽  
Ahmet Gul ◽  
Duran Ustek ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Turkish Family

Clinical heterogeneity associated with TUBB3 gene mutation in a Turkish family with congenital fibrosis of the extraocular muscles

2016 ◽  
Vol 38 (3) ◽  
pp. 288-290 ◽  
Author(s):  
Ahmet Cevdet Ceylan ◽  
Huseyin Gursoy ◽  
Nilgun Yildirim ◽  
Hikmet Basmak ◽  
Nazmiye Erol ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Extraocular Muscles ◽  
Clinical Heterogeneity ◽  
Turkish Family ◽  
Congenital Fibrosis

A novel AVP gene mutation in a Turkish family with neurohypophyseal diabetes insipidus

2015 ◽  
Vol 39 (3) ◽  
pp. 285-290 ◽  
Author(s):  
M. Ilhan ◽  
N. O. Tiryakioglu ◽  
O. Karaman ◽  
E. Coskunpinar ◽  
R. S. Yildiz ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Gene Mutation ◽  
Turkish Family ◽  
Avp Gene

scholarly journals A novel TNFRSF1 gene mutation in a turkish family: report of three cases

2010 ◽  
Vol 69 (Suppl 2) ◽  
pp. A31-A31
Author(s):  
F. Cosan ◽  
A. Yazici ◽  
A. Cefle ◽  
A. Gul
Keyword(s):  
Gene Mutation ◽  
Turkish Family

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
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