Associated Papers
Novel LAT Pathogenic Variants in a POI Family and Its Role in the Ovary.
Chu K et al.
Frontiers in Genetics, 2021
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Oláhová M et al.
American Journal of Human Genetics, 2018
29478781 (PubMed )
Supplement: mmc2.pdf
Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome.
Chrobáková T et al.
Neuromuscular Disorders : Nmd, 2004
Functional protein microarrays for parallel characterisation of p53 mutants.
Boutell JM et al.
Proteomics, 2004
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