scholarly journals A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree

2000 ◽  
Vol 9 (10) ◽  
pp. 1515-1524 ◽  
Author(s):  
R. L. Brown
Keyword(s):  
New Zealand ◽  
Malignant Hyperthermia ◽  
Ryanodine Receptor ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals Identification of Novel Mutations in the Ryanodine-Receptor Gene (RYR1) in Malignant Hyperthermia: Genotype-Phenotype Correlation

1998 ◽  
Vol 62 (3) ◽  
pp. 599-609 ◽  
Author(s):  
Bernadette M. Manning ◽  
Kathleen A. Quane ◽  
Helle Ording ◽  
Albert Urwyler ◽  
Vincenzo Tegazzin ◽  
...  
Keyword(s):  
Malignant Hyperthermia ◽  
Ryanodine Receptor ◽  
Receptor Gene ◽  
Phenotype Correlation ◽  
Novel Mutations ◽  
Genotype Phenotype Correlation

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

2013 ◽  
Author(s):  
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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):  
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Phenotype Correlation ◽  
Genotype Phenotype Correlation
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