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Search for publications relevant for "compound heterozygote"
compound heterozygote
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publication
Familial hypercholesterolemia - a compound heterozygote or homozygote?
2000 |
Publication without faculty affiliation
publication
Augmenting Clinical Interpretability of Thiopurine Methyltransferase Laboratory Evaluation
2014 |
Second Faculty of Medicine
publication
Ataxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and Telangiectasia
2018 |
First Faculty of Medicine
publication
Interdisciplinary approach to diagnosing adult-onset Niemann-Pick disease type C
2016 |
First Faculty of Medicine
publication
Cystic fibrosis patients bearing both the common missense mutation GlyRIGHTWARDS ARROWAsp at codon 551 and the ΔF508 mutation are clinically indistinguishable from ΔF508 homozygotes, except for decreased risk of meconium ileus
1992 |
Second Faculty of Medicine
publication
The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype
2004 |
First Faculty of Medicine
publication
Substitution in the promoter region ofthe CYP21 affects a phenotype ofthe disease in patients with 21-hydroxylase deficiency
2009 |
Third Faculty of Medicine
publication
SPG11: clinical and genetic features of seven Czech patients and literature review
2022