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