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Methods in Molecular Biology (Clifton, N.J.)|March 29, 2012
Analysis and interpretation of RNA splicing alterations in genes involved in genetic disordersMaaike P G Vreeswijk, Heleen M van der Klift
Human Mutation|March 31, 2012
Insertion of an SVA element, a nonautonomous retrotransposon, in PMS2 intron 7 as a novel cause of Lynch syndromeHeleen M van der Klift, Carli M Tops, Frederik J Hes, et al.
Molecular Genetics & Genomic Medicine|August 7, 2015
Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analysesHeleen M van der Klift, Anne M L Jansen, Niki van der Steenstraten, et al.
Human Mutation|August 12, 2008
Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programsMaaike P G Vreeswijk, Jaennelle N Kraan, Heleen M van der Klift, et al.
Genes, Chromosomes & Cancer|April 6, 2021
Insertion of an SVA element in MSH2 as a novel cause of Lynch syndromeCiyu Yang, Yirong Li, Magan Trottier, et al.
European Journal of Human Genetics : EJHG|May 1, 2018
RNA analysis of cancer predisposing genes in formalin-fixed paraffin-embedded tissue determines aberrant splicingAnne Ml Jansen, Heleen M van der Klift, Marieke Ae Roos, et al.
Frontiers in Genetics|October 5, 2023
Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophyShala Ghaderi Berntsson, Hans Matsson, Anna Kristoffersson, et al.
Familial Cancer|April 17, 2008
Genome-wide copy neutral LOH is infrequent in familial and sporadic microsatellite unstable carcinomasMarjo van Puijenbroek, Anneke Middeldorp, Carli M J Tops, et al.
BMC Cancer|January 16, 2007
A procedure for the detection of linkage with high density SNP arrays in a large pedigree with colorectal cancerAnneke Middeldorp, Shantie Jagmohan-Changur, Quinta Helmer, et al.
Genes, Chromosomes & Cancer|March 12, 2010
Comprehensive genetic analysis of seven large families with mismatch repair proficient colorectal cancerAnneke Middeldorp, Shantie C Jagmohan-Changur, Heleen M van der Klift, et al.
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