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Search Results to Emily G. Farrow

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Farrow, Emily

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

Item Type	Name
Concept	Diagnosis, Differential
Concept	Prenatal Diagnosis
Academic Article	Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.
Academic Article	The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.
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	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	On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing.
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	Molecular diagnosis of infantile Neuro axonal Dystrophy by Next Generation Sequencing.
Academic Article	Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.
Academic Article	High Molecular Diagnosis Rate in Undermasculinized Males with Differences in Sex Development Using a Stepwise Approach.

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Diagnosis