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Search Results to Emily G. Farrow

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One or more keywords matched the following items that are connected to Farrow, Emily

Item TypeName
Concept Mutation
Concept Frameshift Mutation
Concept Point Mutation
Concept Mutation, Missense
Academic Article Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.
Academic Article De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.
Academic Article Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Academic Article A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization.
Academic Article PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant.
Academic Article Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.
Academic Article On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing.
Academic Article Extended mutational analyses of FGFR1 in osteoglophonic dysplasia.
Academic Article Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis.
Academic Article A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features.
Academic Article Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets.
Academic Article Altered renal FGF23-mediated activity involving MAPK and Wnt: effects of the Hyp mutation.
Academic Article Neonatal iron deficiency causes abnormal phosphate metabolism by elevating FGF23 in normal and ADHR mice.
Academic Article The role of DMP1 in autosomal recessive hypophosphatemic rickets.
Academic Article CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.
Academic Article Alström Syndrome: Mutation Spectrum of ALMS1.
Academic Article A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes.
Academic Article Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.
Academic Article Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report.
Academic Article Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
Academic Article Molecular diagnosis of infantile Neuro axonal Dystrophy by Next Generation Sequencing.
Academic Article MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.
Academic Article Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
Academic Article POLR3A variants in hereditary spastic paraplegia and ataxia.
Academic Article Examination of rare genetic variants in dental enamel genes: The potential role of next-generation sequencing in primary dental care.

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