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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.
Universal screening for hemoglobinopathies using high-performance liquid chromatography: clinical results of 2.2 million screens.