Nicolaas J. Jaspers

Rotterdam, ZH, Netherlands

Last Updated: 09/26/2026

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Found 13 publications

Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue.

Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue.

Journal: Human molecular genetics
Published: July 12, 2017

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.

Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: February 18, 2016

The Cerebro-oculo-facio-skeletal Syndrome Point Mutation F231L in the ERCC1 DNA Repair Protein Causes Dissociation of the ERCC1-XPF Complex.

The Cerebro-oculo-facio-skeletal Syndrome Point Mutation F231L in the ERCC1 DNA Repair Protein Causes Dissociation of the ERCC1-XPF Complex.

Journal: The Journal of biological chemistry
Published: January 22, 2015

Attenuated XPC expression is not associated with impaired DNA repair in bladder cancer.

Attenuated XPC expression is not associated with impaired DNA repair in bladder cancer.

Journal: PloS one
Published: January 05, 2015

Pollitt syndrome patients carry mutation in TTDN1.

Pollitt syndrome patients carry mutation in TTDN1.

Journal: Meta gene
Published: June 23, 2014

ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination.

ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination.

Journal: American journal of medical genetics. Part A
Published: March 10, 2014

Cell-autonomous progeroid changes in conditional mouse models for repair endonuclease XPG deficiency.

Cell-autonomous progeroid changes in conditional mouse models for repair endonuclease XPG deficiency.

Journal: PLoS genetics
Published: February 03, 2014

Cochlear implant programming: a global survey on the state of the art.

Cochlear implant programming: a global survey on the state of the art.

Journal: TheScientificWorldJournal
Published: August 18, 2013

Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions.

Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions.

Journal: The British journal of dermatology
Published: July 17, 2013

Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.

Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.

Journal: American journal of human genetics
Published: November 13, 2012

A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype-phenotype relationship.

A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype-phenotype relationship.

Journal: The Journal of dermatology
Published: April 30, 2012

SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo.

SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo.

Journal: American journal of medical genetics. Part A
Published: March 07, 2012
Showing 1-12 of 13

Last Updated: 09/26/2026