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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	Dental Enamel Proteins
Concept	DNA-Binding Proteins
Concept	Membrane Proteins
Concept	Microfilament Proteins
Concept	Microtubule-Associated Proteins
Concept	Nerve Tissue Proteins
Concept	Nuclear Proteins
Concept	Proteins
Concept	Recombinant Proteins
Concept	Extracellular Matrix Proteins
Concept	Cell Cycle Proteins
Concept	HSP70 Heat-Shock Proteins
Concept	Tumor Suppressor Proteins
Concept	Zebrafish Proteins
Concept	Proto-Oncogene Proteins B-raf
Concept	Mutant Proteins
Concept	Sodium-Phosphate Cotransporter Proteins
Concept	Sodium-Phosphate Cotransporter Proteins, Type IIa
Concept	Wnt Proteins
Concept	GPI-Linked Proteins
Academic Article	Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.
Academic Article	Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets.
Academic Article	Initial FGF23-mediated signaling occurs in the distal convoluted tubule.
Academic Article	Altered renal FGF23-mediated activity involving MAPK and Wnt: effects of the Hyp mutation.
Academic Article	The role of DMP1 in autosomal recessive hypophosphatemic rickets.
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	Parathyroid hormone receptor signaling in osteocytes increases the expression of fibroblast growth factor-23 in vitro and in vivo.
Academic Article	Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice.
Academic Article	Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and aKlotho).
Academic Article	Circulating aKlotho influences phosphate handling by controlling FGF23 production.
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	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	Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth.
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	Rare Genetic Variants in Immune Genes and Neonatal Herpes Simplex Viral Infections.
Academic Article	Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
Academic Article	Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies.
Academic Article	Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Academic Article	Genetic heterogeneity and enrichment of variants in DNA-repair genes in ameloblastoma.
Academic Article	Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort.

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Proteins