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Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B|July 17, 1999
Comprehensive TP53-denaturing gradient gel electrophoresis mutation detection assay also applicable to archival paraffin-embedded tissueV M Hayes, W Bleeker, E Verlind, et al.
European Journal of Pediatrics|June 2, 2000
Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chartJ P Rake, A M ten Berge, G Visser, et al.
Human Mutation|March 29, 2000
Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypesJ P Rake, A M ten Berge, G Visser, et al.
Diseases of the Colon and Rectum|April 6, 2001
Prognostic significance of K-ras and TP53 mutations in the role of adjuvant chemotherapy on survival in patients with Dukes C colon cancerW A Bleeker, V M Hayes, A Karrenbeld, et al.
Human Mutation|March 27, 1999
Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. OnlineJ P Rake, A M ten Berge, E Verlind, et al.
Genetic Counseling (Geneva, Switzerland)|May 3, 2003
X-linked hydrocephalus: another two families with an L1 mutationG Rodríguez Criado, A Pérez Aytés, F Martínez, et al.
Human Genetics|May 26, 1998
Three novel KCNA1 mutations in episodic ataxia type I familiesH Scheffer, E R Brunt, G J Mol, et al.
Human Genetics|August 1, 1997
Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosaH Scheffer, R P Stulp, E Verlind, et al.
Nature Genetics|October 5, 2001
A role for MLH3 in hereditary nonpolyposis colorectal cancerY Wu, M J Berends, R H Sijmons, et al.
Cancer Genetics and Cytogenetics|September 23, 2003
RFP2, c13ORF1, and FAM10A4 are the most likely tumor suppressor gene candidates for B-cell chronic lymphocytic leukemiaW J van Everdink, A Baranova, C Lummen, et al.
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