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Search Results to Emily G. Farrow

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

keywords Genetic Counseling
keywords Medical and Molecular Genetics

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

Item TypeName
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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