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Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.
Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvement.
Correction: Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.
Perceptions and preferences for genetic testing for sickle cell disease or trait: a qualitative study in Cameroon, Ghana and Tanzania.
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations.
Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations.
A novel missense RAG-1 mutation results in T-B-NK+ SCID in Athabascan-speaking Dine Indians from the Canadian Northwest Territories.
Genetic origin of the Swedish Sami inferred from HLA class I and class II allele frequencies.