about
MIA is a potential biomarker for tumour load in neurofibromatosis type 1The Human Phenotype Ontology: Semantic Unification of Common and Rare DiseaseL1Base: from functional annotation to prediction of active LINE-1 elementsThe Human Phenotype Ontology in 2017Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis LaxaL1Base 2: more retrotransposition-active LINE-1s, more mammalian genomesNOA1 is an essential GTPase required for mitochondrial protein synthesisMammalian mitochondrial nitric oxide synthase: characterization of a novel candidateExonization of active mouse L1s: a driver of transcriptome evolution?Retrotransposition and mutation events yield Rap1 GTPases with differential signalling capacityMutations in proteasome-related genes are associated with thyroid hemiagenesisGenome-wide comparison of cyanobacterial transposable elements, potential genetic diversity indicators.Next-generation diagnostics and disease-gene discovery with the ExomiserWhole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion.Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genomeSomatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient.A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.Alternate-locus aware variant calling in whole genome sequencing.
P50
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P50
description
onderzoeker
@nl
name
Tomasz Zemojtel
@ast
Tomasz Zemojtel
@en
Tomasz Zemojtel
@es
Tomasz Zemojtel
@sl
type
label
Tomasz Zemojtel
@ast
Tomasz Zemojtel
@en
Tomasz Zemojtel
@es
Tomasz Zemojtel
@sl
prefLabel
Tomasz Zemojtel
@ast
Tomasz Zemojtel
@en
Tomasz Zemojtel
@es
Tomasz Zemojtel
@sl