scholarly journals Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation

Brain ◽  
2014 ◽  
Vol 137 (7) ◽  
pp. 1921-1930 ◽  
Author(s):  
Eline M. Hamilton ◽  
Emiel Polder ◽  
Adeline Vanderver ◽  
Sakkubai Naidu ◽  
Raphael Schiffmann ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals TUBB4A novel mutation reinforces the genotype–phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum

Brain ◽  
2014 ◽  
Vol 138 (2) ◽  
pp. e327-e327 ◽  
Author(s):  
Daniel Carvalho ◽  
Savana Santos ◽  
Bernardo Martins ◽  
Fernanda Pinto Marques
Keyword(s):  
Basal Ganglia ◽  
Novel Mutation ◽  
Phenotype Correlation ◽  
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
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