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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 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