scholarly journals A cDNA analysis disclosed the discordance of genotype-phenotype correlation in a patient with attenuated MPS II and a 76-base deletion in the gene for iduronate-2-sulfatase

2020 ◽  
Vol 25 ◽  
pp. 100692
Author(s):  
Yasuyuki Fukuhara ◽  
Ai Miura ◽  
Narutoshi Yamazaki ◽  
Tetsumin So ◽  
Motomichi Kosuga ◽  
...  
Keyword(s):  
Phenotype Correlation ◽  
Mps Ii ◽  
Cdna Analysis ◽  
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
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