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Lista de obras de Rachel L Gillespie

Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy

artículo científico publicado en 2015

An Unusual Retinal Phenotype Associated With a Mutation in Sterol Carrier Protein SCP2.

artículo científico publicado en 2016

Cataract management in children: a review of the literature and current practice across five large UK centres

artículo científico publicado en 2020

Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach

artículo científico publicado en 2016

Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease

scientific article published on 13 December 2019

Molecular findings from 537 individuals with inherited retinal disease.

artículo científico publicado en 2016

Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization

scientific journal article

Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract

artículo científico

Personalized diagnosis and management of congenital cataract by next-generation sequencing.

artículo científico publicado en 2014

Scrib:Rac1 interactions are required for the morphogenesis of the ventricular myocardium

artículo científico publicado en 2014

The Use of Autozygosity Mapping and Next-Generation Sequencing in Understanding Anterior Segment Defects Caused by an Abnormal Development of the Lens

article

The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity.

artículo científico publicado en 2016

Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar

scientific article published on 20 April 2020

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