Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications. Read more about Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications.
A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID). Read more about A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID).
Characterization of the null murine sodium/myo-inositol cotransporter 1 (Smit1 or Slc5a3) phenotype: myo-inositol rescue is independent of expression of its cognate mitochondrial ribosomal protein subunit 6 (Mrps6) gene and of phosphatidylinositol levels Read more about Characterization of the null murine sodium/myo-inositol cotransporter 1 (Smit1 or Slc5a3) phenotype: myo-inositol rescue is independent of expression of its cognate mitochondrial ribosomal protein subunit 6 (Mrps6) gene and of phosphatidylinositol levels
Two-tiered universal newborn screening strategy for severe combined immunodeficiency. Read more about Two-tiered universal newborn screening strategy for severe combined immunodeficiency.
Cancer risk in ATM heterozygotes: a model of phenotypic and mechanistic differences between missense and truncating mutations. Read more about Cancer risk in ATM heterozygotes: a model of phenotypic and mechanistic differences between missense and truncating mutations.
