Publications by authors named "Elsa C Bik"

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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, Arie van Haeringen, Elsa C Bik

Horm Res Paediatr· April 2017

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Comprehensive Mutation Analysis of PMS2 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, Elsa C Bik, Yvonne J Vos

Hum Mutat· November 2016

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Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.
Heleen M van der Klift, Anne M L Jansen, Niki van der Steenstraten, Elsa C Bik, Carli M J Tops

Mol Genet Genomic Med· July 2015

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Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.
Heleen M van der Klift, Carli M J Tops, Elsa C Bik, Merel W Boogaard, Anne-Marijke Borgstein

Hum Mutat· May 2010

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