Distal hereditary motor neuropathies: mutation spectrum and genotype‐phenotype correlation

2020 ◽  
Author(s):  
Marina Frasquet ◽  
Ricard Rojas‐García ◽  
Herminia Argente‐Escrig ◽  
Juan Francisco Vázquez‐Costa ◽  
Nuria Muelas ◽  
...  
Keyword(s):  
Mutation Spectrum ◽  
Phenotype Correlation ◽  
Hereditary Motor ◽  
Genotype Phenotype Correlation

scholarly journals GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss

PLoS ONE ◽  
2015 ◽  
Vol 10 (6) ◽  
pp. e0128691 ◽  
Author(s):  
Jing Zheng ◽  
Zhengbiao Ying ◽  
Zhaoyang Cai ◽  
Dongmei Sun ◽  
Zheyun He ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Han Chinese ◽  
Mutation Spectrum ◽  
Phenotype Correlation ◽  
Gjb2 Mutation ◽  
Genotype Phenotype Correlation ◽  
Syndromic Hearing Loss ◽  
Chinese Subjects

scholarly journals REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31

Brain ◽  
2008 ◽  
Vol 131 (4) ◽  
pp. 1078-1086 ◽  
Author(s):  
Christian Beetz ◽  
Rebecca Schüle ◽  
Tine Deconinck ◽  
Khanh-Nhat Tran-Viet ◽  
Hui Zhu ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Mutation Spectrum ◽  
Spastic Paraplegia ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome

2013 ◽  
Vol 34 (12) ◽  
pp. 1589-1596 ◽  
Author(s):  
Linda Mannini ◽  
Francesco Cucco ◽  
Valentina Quarantotti ◽  
Ian D. Krantz ◽  
Antonio Musio
Keyword(s):  
Mutation Spectrum ◽  
Cornelia De Lange Syndrome ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Cornelia De Lange

Mutation spectrum of phenylketonuria in Syrian population: Genotype–phenotype correlation

Gene ◽  
2013 ◽  
Vol 528 (2) ◽  
pp. 241-247 ◽  
Author(s):  
Hossam Murad ◽  
Amir Dabboul ◽  
Faten Moassas ◽  
Diana Alasmar ◽  
Walid Al-achkar
Keyword(s):  
Mutation Spectrum ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Syrian Population

scholarly journals Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

2012 ◽  
Vol 33 (6) ◽  
pp. 949-959 ◽  
Author(s):  
Johann Böhm ◽  
Valérie Biancalana ◽  
Elizabeth T. DeChene ◽  
Marc Bitoun ◽  
Christopher R. Pierson ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Mutation Spectrum ◽  
Centronuclear Myopathy ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Dynamin 2
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