| Item Type | Name |
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Concept
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Mutation
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Concept
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Mutation, Missense
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Concept
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Frameshift Mutation
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Academic Article
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Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency.
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Academic Article
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Diagnosis and treatment of maple syrup disease: a study of 36 patients.
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Academic Article
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Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.
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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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Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2.
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Academic Article
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Ganglioside GM3 is essential for the structural integrity and function of cochlear hair cells.
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Academic Article
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Mutations in methylenetetrahydrofolate reductase or cystathionine beta-synthase gene, or a high-methionine diet, increase homocysteine thiolactone levels in humans and mice.
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Academic Article
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Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
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Academic Article
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Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
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Academic Article
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Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.
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Academic Article
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Defects in lymphocyte telomere homeostasis contribute to cellular immune phenotype in patients with cartilage-hair hypoplasia.
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Academic Article
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Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency.
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Academic Article
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Mutations in cystathionine beta-synthase or methylenetetrahydrofolate reductase gene increase N-homocysteinylated protein levels in humans.
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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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Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.
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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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A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems.
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Academic Article
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A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans.
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Academic Article
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CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.
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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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Academic Article
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Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.
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Academic Article
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Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities.
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Academic Article
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Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup.
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Academic Article
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De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.
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Academic Article
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Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A?>?G (p.Asn536Asp) variant propionic acidemia.
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Academic Article
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Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder.
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Academic Article
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APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain.
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Concept
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Loss of Function Mutation
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Academic Article
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Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B.
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Academic Article
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Rescue of GM3 synthase deficiency by spatially controlled, rAAV-mediated ST3GAL5 delivery.
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