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Rare Diseases (Austin, Tex.)
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July 9, 2014
Xeroderma Pigmentosum-Trichothiodystrophy overlap patient with novel XPD/ERCC2 mutation
Henrik H Kralund, Lilian Ousager, Nicolaas G Jaspers, et al.
Prenatal Diagnosis
|
September 21, 2007
Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk
Wim J Kleijer, Marianne L T van der Sterre, Victor H Garritsen, et al.
Prenatal Diagnosis
|
August 31, 2006
Prenatal diagnosis of the Cockayne syndrome: survey of 15 years experience
Wim J Kleijer, Marianne L T van der Sterre, Victor H Garritsen, et al.
The Journal of Dermatology
|
October 9, 2012
A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype-phenotype relationship
Davut Pehlivan, Kivanc Cefle, Anja Raams, et al.
Plos One
|
December 15, 2018
Ex vivo assays to predict enhanced chemosensitization by hyperthermia in urothelial cancer of the bladder
Nathalie van den Tempel, Kishan A T Naipal, Anja Raams, et al.
Neurogenetics
|
August 3, 2022
A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders
Amytice Mirchi, Alexa Derksen, Luan T Tran, et al.
DNA Repair
|
January 18, 2003
Anti-tumour compounds illudin S and Irofulven induce DNA lesions ignored by global repair and exclusively processed by transcription- and replication-coupled repair pathways
Nicolaas G J Jaspers, Anja Raams, Michael J Kelner, et al.
Small Methods
|
October 29, 2025
A Reporter Platform to Study Therapy-Induced Senescence in Live Cancer Cells
Jacinta van de Grint, Mengqi Huang, Ruben Sangers, et al.
Molecular and Cellular Biology
|
December 2, 2004
Definition of a short region of XPG necessary for TFIIH interaction and stable recruitment to sites of UV damage
Fabrizio Thorel, Angelos Constantinou, Isabelle Dunand-Sauthier, et al.
Human Mutation
|
September 16, 2006
Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships
Elena Botta, Judith Offman, Tiziana Nardo, et al.
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of 5
Search research articles
Search
Showing results (1-10 of 45) with videos related to
Sort By:
Page
of 5
Rare Diseases (Austin, Tex.)
|
July 9, 2014
Xeroderma Pigmentosum-Trichothiodystrophy overlap patient with novel XPD/ERCC2 mutation
Henrik H Kralund, Lilian Ousager, Nicolaas G Jaspers, et al.
Prenatal Diagnosis
|
September 21, 2007
Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk
Wim J Kleijer, Marianne L T van der Sterre, Victor H Garritsen, et al.
Prenatal Diagnosis
|
August 31, 2006
Prenatal diagnosis of the Cockayne syndrome: survey of 15 years experience
Wim J Kleijer, Marianne L T van der Sterre, Victor H Garritsen, et al.
The Journal of Dermatology
|
October 9, 2012
A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype-phenotype relationship
Davut Pehlivan, Kivanc Cefle, Anja Raams, et al.
Plos One
|
December 15, 2018
Ex vivo assays to predict enhanced chemosensitization by hyperthermia in urothelial cancer of the bladder
Nathalie van den Tempel, Kishan A T Naipal, Anja Raams, et al.
Neurogenetics
|
August 3, 2022
A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders
Amytice Mirchi, Alexa Derksen, Luan T Tran, et al.
DNA Repair
|
January 18, 2003
Anti-tumour compounds illudin S and Irofulven induce DNA lesions ignored by global repair and exclusively processed by transcription- and replication-coupled repair pathways
Nicolaas G J Jaspers, Anja Raams, Michael J Kelner, et al.
Small Methods
|
October 29, 2025
A Reporter Platform to Study Therapy-Induced Senescence in Live Cancer Cells
Jacinta van de Grint, Mengqi Huang, Ruben Sangers, et al.
Molecular and Cellular Biology
|
December 2, 2004
Definition of a short region of XPG necessary for TFIIH interaction and stable recruitment to sites of UV damage
Fabrizio Thorel, Angelos Constantinou, Isabelle Dunand-Sauthier, et al.
Human Mutation
|
September 16, 2006
Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships
Elena Botta, Judith Offman, Tiziana Nardo, et al.
Page
of 5