This page shows the details of why an item matched the keywords from your search.
One or more keywords matched the following items that are connected to
Strauss, Kevin
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Concept
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Chromosomes, Human, Pair 7
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Concept
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Chromosomes, Human, Pair 19
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Concept
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Chromosomes, Human, Pair 3
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Concept
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Chromosomes, Human, Pair 20
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Concept
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Chromosomes, Human, Pair 5
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Concept
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Chromosome Mapping
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Concept
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Chromosomes, Human, Pair 2
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Academic Article
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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.
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Academic Article
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Type I glutaric aciduria, part 1: natural history of 77 patients.
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Academic Article
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Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population.
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Academic Article
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Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.
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Academic Article
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Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history.
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Academic Article
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Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5.
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Academic Article
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Genetics, medicine, and the Plain people.
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Academic Article
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Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease.
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Academic Article
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A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome.
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Academic Article
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Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10.
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Academic Article
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Genetic mapping and exome sequencing identify variants associated with five novel diseases.
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Academic Article
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A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.
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