scholarly journals Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis

2021 ◽  
Author(s):  
Fei Xie ◽  
Lei Lei ◽  
Bin Cai ◽  
Lu Gan ◽  
Yu Gao ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Clinical Manifestation ◽  
Hereditary Spherocytosis ◽  
Chinese Children ◽  
Phenotypic Analysis ◽  
Novel Gene

Identification of 8 novel gene variants in primary hyperoxaluria in 21 Chinese children with urinary stones

2018 ◽  
Vol 37 (8) ◽  
pp. 1713-1721
Author(s):  
Lei He ◽  
Guofeng Xu ◽  
Xiaoliang Fang ◽  
Houwei Lin ◽  
Maosheng Xu ◽  
...  
Keyword(s):  
Primary Hyperoxaluria ◽  
Chinese Children ◽  
Urinary Stones ◽  
Gene Variants ◽  
Novel Gene

A novel gene mutation in a family with X-linked retinoschisis

2015 ◽  
Vol 114 (9) ◽  
pp. 872-880 ◽  
Author(s):  
Yu-Hung Lai ◽  
Shun-Ping Huang ◽  
Shee-Ping Chen ◽  
Pei-Shin Hu ◽  
Shu-Fung Lin ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Novel Gene

P1799Identification of a novel gene mutation in TRPM4 in a family with premature SCD, cardiac conduction disease and cardiomyopathy

2018 ◽  
Vol 39 (suppl_1) ◽  
Author(s):  
S Winnik ◽  
A Medeiros-Domingo ◽  
S Biskup ◽  
A Breitenstein ◽  
C Brunckhorst ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Cardiac Conduction ◽  
Novel Gene

scholarly journals Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation

2010 ◽  
Vol 53 (6) ◽  
pp. 1101-1107 ◽  
Author(s):  
Armin Finkenstedt ◽  
Elisabeth Wolf ◽  
Elmar Höfner ◽  
Bethina Isasi Gasser ◽  
Sylvia Bösch ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Brain Iron ◽  
Novel Gene

A novel gene mutation in PANK2 in a patient with severe jaw-opening dystonia

2016 ◽  
Vol 38 (8) ◽  
pp. 755-758 ◽  
Author(s):  
Zuhal Yapici ◽  
Nihan Hande Akcakaya ◽  
Pinar Tekturk ◽  
Sibel Aylin Ugur Iseri ◽  
Ugur Ozbek
Keyword(s):  
Gene Mutation ◽  
Novel Gene ◽  
Jaw Opening

scholarly journals Patient with Mal de Meleda in whom a Novel Gene Mutation was Identified

2019 ◽  
Vol 51 (2) ◽  
pp. 205-207
Author(s):  
Gulhan Gurel ◽  
◽  
Oguz Cilingir ◽  
Ozden Kutluay ◽  
Serap Arslan ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Novel Gene ◽  
Mal De Meleda

LRRTM4-C538Y novel gene mutation is associated with hereditary macular degeneration with novel dysfunction of ON-type bipolar cells

2018 ◽  
Vol 63 (8) ◽  
pp. 893-900 ◽  
Author(s):  
Yuichi Kawamura ◽  
Akiko Suga ◽  
Takuro Fujimaki ◽  
Kazutoshi Yoshitake ◽  
Kazushige Tsunoda ◽  
...  
Keyword(s):  
Macular Degeneration ◽  
Gene Mutation ◽  
Bipolar Cells ◽  
Novel Gene
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