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Search Results to Emily G. Farrow

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Farrow, Emily

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

Item Type	Name
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	Alstr?m 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.
Academic Article	Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing.
Academic Article	Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.
Academic Article	Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.
Academic Article	Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular Phenotypes.

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