Connection

Search Results to Emily G. Farrow

This is a "connection" page, showing the details of why an item matched the keywords from your search.

Search Results

Farrow, Emily

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

Item Type	Name
Concept	Alleles
Concept	Amino Acid Sequence
Concept	Base Sequence
Concept	Gene Expression Regulation
Concept	Gene Frequency
Concept	Genes, Dominant
Concept	Genes, Recessive
Concept	Molecular Sequence Data
Concept	Gene Expression
Concept	Genome, Human
Concept	Genome
Concept	Conserved Sequence
Concept	Gene Expression Regulation, Developmental
Concept	Gene Dosage
Concept	Polymorphism, Single Nucleotide
Concept	Gene Expression Profiling
Concept	Gene Knock-In Techniques
Concept	Exome
Concept	Gene-Environment Interaction
Academic Article	On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing.
Academic Article	Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets.
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	Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice.
Academic Article	Circulating aKlotho influences phosphate handling by controlling FGF23 production.
Academic Article	Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.
Academic Article	Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis.
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	MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.
Academic Article	Erythropoietin stimulates murine and human fibroblast growth factor-23, revealing novel roles for bone and bone marrow.
Academic Article	Examination of rare genetic variants in dental enamel genes: The potential role of next-generation sequencing in primary dental care.
Academic Article	A novel nonsense substitution identified in the AMIGO2 gene in an Occulo-Auriculo-Vertebral spectrum patient.
Academic Article	Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.
Academic Article	ITGB2 (Integrin ?2) Immunomodulatory Gene Variants in Premature Infants With Necrotizing Enterocolitis.
Academic Article	Rare Genetic Variants in Immune Genes and Neonatal Herpes Simplex Viral Infections.
Academic Article	Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Academic Article	Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing.
Academic Article	Genetic heterogeneity and enrichment of variants in DNA-repair genes in ameloblastoma.

Search Criteria

Genes