List of works by Monkol Lek

A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

scientific article published on 09 August 2016

A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis

scientific article published on 10 September 2020

Analysis of protein-coding genetic variation in 60,706 humans

scientific article (publication date: 17 August 2016)

Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

correction of a scientific article; published on 30 May 2019

Distribution and medical impact of loss-of-function variants in the Finnish founder population

scientific article

Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

scientific article published on 13 September 2016

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

scientific article

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

scientific article published on 24 September 2014

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

scientific article published on January 2013

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