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Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function.
Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population.
Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5.
Genetics, medicine, and the Plain people.
Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease.
Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10.
Genetic mapping and exome sequencing identify variants associated with five novel diseases.
A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.