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Lista de obras de Robin van der Lee

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

scientific article published on 15 August 2019

CiliaCarta: An integrated and validated compendium of ciliary genes

artículo científico publicado en 2019

Classification of intrinsically disordered regions and proteins

artículo científico publicado en 2014

Curation and bioinformatic analysis of strabismus genes supports functional heterogeneity and proposes candidate genes with connections to RASopathies

scientific article published on 15 February 2019

Genome-scale detection of positive selection in nine primates predicts human-virus evolutionary conflicts

artículo científico publicado en 2017

Immunologic defects in severe mucocutaneous HSV-2 infections: Response to IFN-γ therapy

artículo científico publicado en 2016

Integrative Genomics-Based Discovery of Novel Regulators of the Innate Antiviral Response

artículo científico publicado en 2015

Intrinsically disordered proteins: regulation and disease

artículo científico publicado en 2011

Intrinsically disordered segments affect protein half-life in the cell and during evolution

artículo científico publicado en 2014

JASPAR 2018: update of the open-access database of transcription factor binding profiles and its web framework

artículo científico publicado en 2017

JASPAR 2020: update of the open-access database of transcription factor binding profiles

artículo científico publicado en 2020

Probabilistic data integration identifies reliable gametocyte-specific proteins and transcripts in malaria parasites

artículo científico publicado en 2018

Probabilistic data integration identifies reliable gametocyte-specific proteins and transcripts in malaria parasites

scholarly article published 10 October 2017

Strabismus in Children With Intellectual Disability: Part of a Broader Motor Control Phenotype?

scientific article published on 11 April 2019

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome ⬇️

scientific journal article

The RIG-I-like helicase receptor MDA5 (IFIH1) is involved in the host defense against Candida infections

artículo científico publicado en 2015

Transcriptome analysis of complex I-deficient patients reveals distinct expression programs for subunits and assembly factors of the oxidative phosphorylation system

artículo científico publicado en 2015

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