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Polymorphism, Single Nucleotide
Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population.
Severe Salt-Losing 3?-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes.
Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5.
Clinical application of DNA microarrays: molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiency.
Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasia.
Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10.
A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans.
Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency.
Genetic mapping and exome sequencing identify variants associated with five novel diseases.
Polymorphism Single Nucleotide