Genotype–phenotype correlation in a Spanish population homozygous for the H63D mutation of the HFE gene

2006 ◽  
Vol 85 (5) ◽  
pp. 340-342 ◽  
Author(s):  
Angel F. Remacha ◽  
M. Pilar Sardà ◽  
M. Jesús Barceló ◽  
Vanessa Bach ◽  
Albert Altès ◽  
...  
Keyword(s):  
Spanish Population ◽  
Hfe Gene ◽  
Phenotype Correlation ◽  
H63d Mutation ◽  
Genotype Phenotype Correlation

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

scholarly journals Genotype‐phenotype correlation identified a novel SARS‐CoV‐2 variant possibly linked to severe disease

2021 ◽  
Author(s):  
Tom Loney ◽  
Hamda Khansaheb ◽  
Sathishkumar Ramaswamy ◽  
Divinlal Harilal ◽  
Zulfa Omar Deesi ◽  
...  
Keyword(s):  
Severe Disease ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

Genotype–phenotype correlation in Gordon’s syndrome: report of two cases carrying novel heterozygous mutations

2021 ◽  
Author(s):  
Franca Anglani ◽  
Leonardo Salviati ◽  
Matteo Cassina ◽  
Matteo Rigato ◽  
Laura Gobbi ◽  
...  
Keyword(s):  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Syndrome Report

scholarly journals Genotype–phenotype correlation in WT1 exon 8 to 9 missense variants

2021 ◽  
Author(s):  
China Nagano ◽  
Yutaka Takaoka ◽  
Koichi Kamei ◽  
Riku Hamada ◽  
Daisuke Ichikawa ◽  
...  
Keyword(s):  
Phenotype Correlation ◽  
Missense Variants ◽  
Genotype Phenotype Correlation
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