Gene mutation analysis in a Chinese pedigree with autosomal recessive woolly hair

2020 ◽  
Keyword(s):  
Gene Mutation ◽  
Mutation Analysis ◽  
Autosomal Recessive ◽  
Woolly Hair ◽  
Gene Mutation Analysis

Genetic counselling and gene mutation analysis in familial adenomatous polyposis in Western Australia

1995 ◽  
Vol 162 (9) ◽  
pp. 464-467 ◽  
Author(s):  
Ian R Walpole ◽  
Jack Goldblatt ◽  
Deborah A Kool ◽  
Ted Edkins ◽  
Rhona Creegan ◽  
...  
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Gene Mutation ◽  
Genetic Counselling ◽  
Mutation Analysis ◽  
Western Australia ◽  
Adenomatous Polyposis ◽  
Gene Mutation Analysis

TGFBI Gene Mutation Analysis in Families with Hereditary Corneal Dystrophies from Ukraine

2004 ◽  
Vol 218 (6) ◽  
pp. 411-414 ◽  
Author(s):  
V.M. Pampukha ◽  
G.I. Drozhyna ◽  
L.A. Livshits
Keyword(s):  
Gene Mutation ◽  
Mutation Analysis ◽  
Corneal Dystrophies ◽  
Tgfbi Gene ◽  
Gene Mutation Analysis

scholarly journals Gene Mutation Analysis in EGFR Wild Type NSCLC Responsive to Erlotinib: Are There Features to Guide Patient Selection?

2014 ◽  
Vol 16 (1) ◽  
pp. 747-757 ◽  
Author(s):  
Paola Ulivi ◽  
Angelo Delmonte ◽  
Elisa Chiadini ◽  
Daniele Calistri ◽  
Maximilian Papi ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Mutation Analysis ◽  
Patient Selection ◽  
Wild Type ◽  
Gene Mutation Analysis

Gene Mutation Analysis in Determining Late Recurrence of Adenocarcinoma of the Lung

2015 ◽  
Vol 100 (2) ◽  
pp. 711-713
Author(s):  
Nobuyuki Kondo ◽  
Teruhisa Takuwa ◽  
Masaki Hashimoto ◽  
Kazue Yoneda ◽  
Seiji Matsumoto ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Mutation Analysis ◽  
Late Recurrence ◽  
Adenocarcinoma Of The Lung ◽  
Gene Mutation Analysis

scholarly journals 271 Mutation analysis of autosomal recessive woolly hair/ hypotrichosis in 72 Japanese patients

2020 ◽  
Vol 140 (7) ◽  
pp. S33
Author(s):  
R. Hayashi ◽  
A. Fujimoto ◽  
H. Fujikawa ◽  
R. Yokoyama ◽  
S. Shinkuma ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Autosomal Recessive ◽  
Japanese Patients ◽  
Woolly Hair
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