scholarly journals Genotype–phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants

2017 ◽  
Author(s):  
Osama K. Zaki ◽  
George Priya Doss C ◽  
Salsabil A. Ali ◽  
Ghadeer G. Murad ◽  
Shaima A. Elashi ◽  
...  
Keyword(s):  
Computational Analysis ◽  
Structural Modelling ◽  
Phenotype Correlation ◽  
Isovaleric Acidaemia ◽  
Genotype Phenotype Correlation ◽  
Novel Variants

Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation

2021 ◽  
pp. 108637
Author(s):  
Zhen Yi ◽  
Wenmin Sun ◽  
Xueshan Xiao ◽  
Shiqiang Li ◽  
Xiaoyun Jia ◽  
...  
Keyword(s):  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Novel Variants

Computational analysis of human N-acetylgalactosamine-6-sulfate sulfatase enzyme: an update in genotype–phenotype correlation for Morquio A

2014 ◽  
Vol 41 (11) ◽  
pp. 7073-7088 ◽  
Author(s):  
Sergio Olarte-Avellaneda ◽  
Alexander Rodríguez-López ◽  
Carlos Javier Alméciga-Díaz ◽  
Luis Alejandro Barrera
Keyword(s):  
Computational Analysis ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Morquio A

A familial case of osteogenesis imperfecta: study of genotype-phenotype correlation

2013 ◽  
Author(s):  
Ponti Emanuela ◽  
Mihalich Alessandra ◽  
Broggi Francesca ◽  
Maria Di Blasio Anna ◽  
Luisa Bianchi Maria
Keyword(s):  
Osteogenesis Imperfecta ◽  
Familial Case ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation
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