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A De Novo Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome

artículo científico publicado en 2018

A novel homozygous variant in REN in a family presenting with classic features of disorders involving the renin-angiotensin pathway, without renal tubular dysgenesis

artículo científico publicado en 2020

Ancestry-specific profiles of genetic determinants of severe hypertriglyceridemia

scientific article published on 24 November 2020

Association of apolipoprotein E variation with cognitive impairment across multiple neurodegenerative diagnoses

Contribution of rare variant associations to neurodegenerative disease presentation

artículo científico publicado en 2021

Genetic Variation in the Ontario Neurodegenerative Disease Research Initiative

scientific article published on 15 August 2019

Genetic and epigenetic study of an Alzheimer's disease family with monozygotic triplets

scientific article published on 01 November 2019

KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection

artículo científico publicado en 2016

Loss-of-Function CREB3L3 Variants in Patients With Severe Hypertriglyceridemia

artículo científico publicado en 2020

Parkinson's Disease, NOTCH3 Genetic Variants, and White Matter Hyperintensities

artículo científico publicado en 2020

Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically

artículo científico publicado en 2016

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

artículo científico publicado en 2018

The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration

artículo científico publicado en 2016

The Ontario Neurodegenerative Disease Research Initiative

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