Elsa C. Bik

Somatic <i>APC</i> mosaicism: an underestimated cause of polyposis coli

Frederik J. Hes, Maartje Nielsen, Elsa C. Bik et al. · Gut · 2007 · 158 citations

Life Sciences, Genetics, Oncology +17

Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient <scp>RNA</scp> analyses

Heleen M. van der Klift, Anne M.L. Jansen, Niki van der Steenstraten et al. · Molecular Genetics & Genomic Medicine · 2015 · 78 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Comprehensive Mutation Analysis of<i>PMS2</i>in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome

Heleen M. van der Klift, Arjen R. Mensenkamp, Mark Drost et al. · Human Mutation · 2016 · 64 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Quantification of sequence exchange events between<i>PMS2</i>and<i>PMS2CL</i>provides a basis for improved mutation scanning of Lynch syndrome patients

Heleen M. van der Klift, Carli M.J. Tops, Elsa C. Bik et al. · Human Mutation · 2010 · 60 citations

Life Sciences, Genetics, Molecular Genetics +16

Novel Leptin Receptor Mutations Identified in Two Girls with Severe Obesity Are Associated with Increased Bone Mineral Density

Sabine E Hannema, Jan M. Wit, Mieke E.C.A.M. Houdijk et al. · Hormone Research in Paediatrics · 2016 · 48 citations · Full text

Medicine, Endocrinology, Genetics +17