Skip to main content
An immune defect causing dominant chronic mucocutaneous candidiasis and thyroid disease maps to chromosome 2p in a single family.
Active intestinal chloride secretion in human carriers of cystic fibrosis mutations: an evaluation of the hypothesis that heterozygotes have subnormal active intestinal chloride secretion.
A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).
A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23.
Genetic linkage of hyper-IgE syndrome to chromosome 4.
Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.
Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families.
The timing of twinning: more insights from X inactivation.
The gene for severe combined immunodeficiency disease in Athabascan-speaking Native Americans is located on chromosome 10p.
Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency.