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Farrow, Emily

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

Item Type	Name
Concept	Exome
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	De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.
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	Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings.
Academic Article	Correction to: Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings.
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	Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis.
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	A novel nonsense substitution identified in the AMIGO2 gene in an Occulo-Auriculo-Vertebral spectrum patient.
Academic Article	High Molecular Diagnosis Rate in Undermasculinized Males with Differences in Sex Development Using a Stepwise Approach.
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	Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies.
Academic Article	Significance Associated with Phenotype Score Aids in Variant Prioritization for Exome Sequencing Analysis.

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