A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion. Read more about A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion.
Phenotypic effects of heterozygosity for a BRCA2 mutation. Read more about Phenotypic effects of heterozygosity for a BRCA2 mutation.
Targeted disruption of exons 1 to 6 of the Fanconi Anemia group A gene leads to growth retardation, strain-specific microphthalmia, meiotic defects and primordial germ cell hypoplasia. Read more about Targeted disruption of exons 1 to 6 of the Fanconi Anemia group A gene leads to growth retardation, strain-specific microphthalmia, meiotic defects and primordial germ cell hypoplasia.
Direct interaction of the Fanconi anaemia protein FANCG with BRCA2/FANCD1. Read more about Direct interaction of the Fanconi anaemia protein FANCG with BRCA2/FANCD1.
Genetic modifiers interact with maternal determinants in vascular development of Tgfb1(-/-) mice. Read more about Genetic modifiers interact with maternal determinants in vascular development of Tgfb1(-/-) mice.
Genome-wide linkage analysis of bronchodilator responsiveness and post-bronchodilator spirometric phenotypes in chronic obstructive pulmonary disease. Read more about Genome-wide linkage analysis of bronchodilator responsiveness and post-bronchodilator spirometric phenotypes in chronic obstructive pulmonary disease.
Human BOULE gene rescues meiotic defects in infertile flies. Read more about Human BOULE gene rescues meiotic defects in infertile flies.
Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations. Read more about Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations.
A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications. Read more about A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications.
Genome-wide linkage analysis of severe, early-onset chronic obstructive pulmonary disease: airflow obstruction and chronic bronchitis phenotypes. Read more about Genome-wide linkage analysis of severe, early-onset chronic obstructive pulmonary disease: airflow obstruction and chronic bronchitis phenotypes.
