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Farrow, Emily

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

Item Type	Name
Concept	DNA
Concept	DNA Mutational Analysis
Concept	DNA Polymerase II
Concept	DNA-Binding Proteins
Concept	Sequence Analysis, DNA
Concept	DNA Primers
Concept	DNA Methylation
Concept	DNA Breaks
Concept	DNA Copy Number Variations
Academic Article	Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.
Academic Article	A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases.
Academic Article	Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.
Academic Article	Clinical genome sequencing in an unbiased pediatric cohort.
Academic Article	Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.
Academic Article	Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
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	Extended mutational analyses of FGFR1 in osteoglophonic dysplasia.
Academic Article	Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis.
Academic Article	Initial FGF23-mediated signaling occurs in the distal convoluted tubule.
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	A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes.
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	A novel nonsense substitution identified in the AMIGO2 gene in an Occulo-Auriculo-Vertebral spectrum patient.
Academic Article	Rare Genetic Variants in Immune Genes and Neonatal Herpes Simplex Viral Infections.
Academic Article	Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation Sequencing.
Academic Article	Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.
Academic Article	Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case series.
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.
Academic Article	Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq.

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