List of works - Richard Alan Lewis - Paulina

List of works by Richard Alan Lewis

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

scientific article published on 24 July 2017

GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism.

scientific article published on 08 September 2016

Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN

scientific article published on 21 May 2018

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations

scientific article published on 17 March 2016

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

scientific article published on 22 September 2016

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