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Erik Sistermans

Showing results (1-10 of 15) with videos related to

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American Journal of Medical Genetics. Part A|November 10, 2005
Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotypeLucie Guyant-Maréchal, Aad Verrips, Carole Girard, et al.
Human Mutation|November 16, 2005
Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytesGrace M Hobson, Zhong Huang, Karen Sperle, et al.
Bioinformatics (Oxford, England)|March 12, 2009
Smoothing waves in array CGH tumor profilesMark A van de Wiel, Rebecca Brosens, Paul H C Eilers, et al.
European Journal of Human Genetics : EJHG|October 29, 2015
Guidelines for diagnostic next-generation sequencingGert Matthijs, Erika Souche, Mariëlle Alders, et al.
Human Mutation|December 17, 2008
Genomic microarrays in mental retardation: a practical workflow for diagnostic applicationsDavid A Koolen, Rolph Pfundt, Nicole de Leeuw, et al.
European Journal of Human Genetics : EJHG|December 25, 2014
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequenceM Brigita Tan-Sindhunata, Inge B Mathijssen, Margriet Smit, et al.
Obesity (Silver Spring, Md.)|October 23, 2010
Melanocortin-4 receptor gene mutations in a Dutch cohort of obese childrenLinda van den Berg, Olivier van Beekum, Peter Heutink, et al.
Nature Genetics|February 14, 2006
Germline KRAS mutations cause Noonan syndromeSuzanne Schubbert, Martin Zenker, Sara L Rowe, et al.
Neurology|October 24, 2014
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutationsNicole I Wolf, Adeline Vanderver, Rosalina M L van Spaendonk, et al.
Medrxiv : the Preprint Server for Health Sciences|June 9, 2023
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variantsCorrine Smolen, Matthew Jensen, Lisa Dyer, et al.
Pageof 2

Showing results (1-10 of 15) with videos related to

Sort By:
Pageof 2
American Journal of Medical Genetics. Part A|November 10, 2005
Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotypeLucie Guyant-Maréchal, Aad Verrips, Carole Girard, et al.
Human Mutation|November 16, 2005
Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytesGrace M Hobson, Zhong Huang, Karen Sperle, et al.
Bioinformatics (Oxford, England)|March 12, 2009
Smoothing waves in array CGH tumor profilesMark A van de Wiel, Rebecca Brosens, Paul H C Eilers, et al.
European Journal of Human Genetics : EJHG|October 29, 2015
Guidelines for diagnostic next-generation sequencingGert Matthijs, Erika Souche, Mariëlle Alders, et al.
Human Mutation|December 17, 2008
Genomic microarrays in mental retardation: a practical workflow for diagnostic applicationsDavid A Koolen, Rolph Pfundt, Nicole de Leeuw, et al.
European Journal of Human Genetics : EJHG|December 25, 2014
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequenceM Brigita Tan-Sindhunata, Inge B Mathijssen, Margriet Smit, et al.
Obesity (Silver Spring, Md.)|October 23, 2010
Melanocortin-4 receptor gene mutations in a Dutch cohort of obese childrenLinda van den Berg, Olivier van Beekum, Peter Heutink, et al.
Nature Genetics|February 14, 2006
Germline KRAS mutations cause Noonan syndromeSuzanne Schubbert, Martin Zenker, Sara L Rowe, et al.
Neurology|October 24, 2014
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutationsNicole I Wolf, Adeline Vanderver, Rosalina M L van Spaendonk, et al.
Medrxiv : the Preprint Server for Health Sciences|June 9, 2023
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variantsCorrine Smolen, Matthew Jensen, Lisa Dyer, et al.
Pageof 2