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Strauss, Kevin
One or more keywords matched the following items that are connected to
Strauss, Kevin
Item Type
Name
Concept
Ubiquitin-Protein Ligases
Concept
Amino Acyl-tRNA Synthetases
Concept
Carbon-Carbon Ligases
Academic Article
Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.
Academic Article
Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease.
Academic Article
Genetic mapping and exome sequencing identify variants associated with five novel diseases.
Academic Article
A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.
Academic Article
Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A?>?G (p.Asn536Asp) variant propionic acidemia.
Search Criteria
Ligases