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Strauss, Kevin

One or more keywords matched the following items that are connected to Strauss, Kevin

Item Type	Name
Concept	Phenotype
Academic Article	Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.
Academic Article	Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2.
Academic Article	Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Academic Article	TNNT1 nemaline myopathy: natural history and therapeutic frontier.
Academic Article	Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.
Academic Article	Defects in lymphocyte telomere homeostasis contribute to cellular immune phenotype in patients with cartilage-hair hypoplasia.
Academic Article	Hepatic Parenchymal Injury in Crigler-Najjar Type I.
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	Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease.
Academic Article	A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome.
Academic Article	Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.
Academic Article	Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.
Academic Article	CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.
Academic Article	Heritability of complex white matter diffusion traits assessed in a population isolate.
Academic Article	A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.
Academic Article	Branched-chain a-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.
Academic Article	Clinical and genetic validity of quantitative bipolarity.
Academic Article	Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A?>?G (p.Asn536Asp) variant propionic acidemia.
Academic Article	AAV-Mediated Gene Therapy for Glycosphingolipid Biosynthesis Deficiencies.
Academic Article	Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder.

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