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Search Results to Emily G. Farrow

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

Item TypeName
Concept Alleles
Academic Article In vivo characterization of CYP2D6*12, *29 and *84 using dextromethorphan as a probe drug: a case report.
Academic Article Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.
Academic Article Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
Academic Article Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.
Academic Article Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
Academic Article Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.
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 Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies.
Academic Article Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.
Academic Article Characterization and visualization of tandem repeats at genome scale.
Academic Article Pangenome graphs improve the analysis of structural variants in rare genetic diseases.

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