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Search Results to Emily G. Farrow

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Farrow, Emily

One or more keywords matched the following properties of Farrow, Emily

Property	Value
keywords	Genetic Counseling
keywords	Medical and Molecular Genetics

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

Item Type	Name
Concept	Genetic Complementation Test
Concept	Genetic Markers
Concept	Genetic Testing
Concept	Genetic Variation
Concept	Genetic Heterogeneity
Concept	Genetic Predisposition to Disease
Concept	Genetic Diseases, Inborn
Concept	Genetic Diseases, X-Linked
Concept	Genetic Association Studies
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	Next-generation community genetics for low- and middle-income countries.
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	GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 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	Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis.
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	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	Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis.
Academic Article	Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.
Academic Article	Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing.
Academic Article	Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth.
Academic Article	Correction: 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	De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
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	Challenges in genetic testing: clinician variant interpretation processes and the impact on clinical care.
Academic Article	Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
Academic Article	CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis: A GeT-RM Collaborative Project.
Academic Article	Genetic heterogeneity and enrichment of variants in DNA-repair genes in ameloblastoma.
Academic Article	Pangenome graphs improve the analysis of structural variants in rare genetic diseases.

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