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Works by Jaspers, Nicolaas G.J.

Results: 6

1

A temperature-sensitive disorder in basal transcription and DNA repair in humans.

Published in:

Nature Genetics, 2001, v. 27, n. 3, p. 299, doi. 10.1038/85864

By:

Vermeulen, Wim;
Rademakers, Suzanne;
Jaspers, Nicolaas G.J.;
Appeldoorn, Esther;
Raams, Anja;
Klein, Binie;
Kleijer, Wim J.;
Kjærsgård Hansen, Lars;
Hoeijmakers, Jan H.J.

Publication type:

Article

2

When machines get stuck—obstructed RNA polymerase II: displacement, degradation or suicide.

Published in:

BioEssays, 2002, v. 24, n. 9, p. 780, doi. 10.1002/bies.10150

By:

van den Boom, Vincent;
Jaspers, Nicolaas G.J.;
Vermeulen, Wim

Publication type:

Article

3

Mutations in the C7orf11 ( TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships.

Published in:

Human Mutation, 2007, v. 28, n. 1, p. 92, doi. 10.1002/humu.20419

By:

Botta, Elena;
Offman, Judith;
Nardo, Tiziana;
Ricotti, Roberta;
Zambruno, Giovanna;
Sansone, Daniela;
Balestri, Paolo;
Raams, Anja;
Kleijer, Wim J.;
Jaspers, Nicolaas G.J.;
Sarasin, Alain;
Lehmann, Alan R.;
Stefanini, Miria

Publication type:

Article

4

Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 18, p. 3365, doi. 10.1093/hmg/ddp276

By:

Janssen, Rolf J.R.J.;
Distelmaier, Felix;
Smeets, Roel;
Wijnhoven, Tessa;
Østergaard, Elsebet;
Jaspers, Nicolaas G.J.;
Raams, Anja;
Kemp, Stephan;
Rodenburg, Richard J.T.;
Willems, Peter H.M.G.;
van den Heuvel, Lambert P.W.J.;
Smeitink, Jan A.M.;
Nijtmans, Leo G.J.

Publication type:

Article

5

ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2892, doi. 10.1002/ajmg.a.36709

By:

Shehata, Laila;
Simeonov, Dimitre R.;
Raams, Anja;
Wolfe, Lynne;
Vanderver, Adeline;
Li, Xueli;
Huang, Yan;
Garner, Shannon;
Boerkoel, Cornelius F.;
Thurm, Audrey;
Herman, Gail E.;
Tifft, Cynthia J.;
He, Miao;
Jaspers, Nicolaas G.J.;
Gahl, William A.

Publication type:

Article

6

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

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2204, doi. 10.1002/ajmg.a.35532

By:

Baradaran-Heravi, Alireza;
Raams, Anja;
Lubieniecka, Joanna;
Cho, Kyoung Sang;
DeHaai, Kristi A.;
Basiratnia, Mitra;
Mari, Pierre-Olivier;
Xue, Yutong;
Rauth, Michael;
Olney, Ann Haskins;
Shago, Mary;
Choi, Kunho;
Weksberg, Rosanna A.;
Nowaczyk, Malgorzata J.M.;
Wang, Weidong;
Jaspers, Nicolaas G.J.;
Boerkoel, Cornelius F.

Publication type:

Article