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Egbert Bakker

Showing results (11-20 of 52) with videos related to

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Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|October 18, 2012
Van Buchem disease: clinical, biochemical, and densitometric features of patients and disease carriersAntoon H van Lierop, Neveen A T Hamdy, Martje E van Egmond, et al.
Human Mutation|April 17, 2009
Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScannerNienke van der Stoep, Chantal D M van Paridon, Tom Janssens, et al.
European Journal of Human Genetics : EJHG|November 25, 2010
Experiences with array-based sequence capture; toward clinical applicationsRowida Almomani, Jaap van der Heijden, Yavuz Ariyurek, et al.
European Journal of Human Genetics : EJHG|March 9, 2017
European registration process for Clinical Laboratory Geneticists in genetic healthcareThomas Liehr, Isabel M Carreira, Dilek Aktas, et al.
Blood Cells, Molecules & Diseases|November 29, 2007
A novel (Leu183Pro-)mutation in the HFE-gene co-inherited with the Cys282Tyr mutation in two unrelated Dutch hemochromatosis patientsDorine W Swinkels, Hanka Venselaar, Erwin T Wiegerinck, et al.
European Journal of Medical Genetics|June 13, 2008
A 400kb duplication, 2.4Mb triplication and 130kb duplication of 9q34.3 in a patient with severe mental retardationAntoinet C J Gijsbers, Emilia K Bijlsma, Marjan M Weiss, et al.
Muscle & Nerve|June 15, 2010
Pre- and postsynaptic neuromuscular junction abnormalities in musk myastheniaErik H Niks, Jan B M Kuks, John H J Wokke, et al.
European Journal of Human Genetics : EJHG|June 15, 2007
Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature reviewMaartje Nielsen, Elsa Bik, Frederik J Hes, et al.
Annals of Neurology|June 3, 2004
Somatic mosaicism in FSHD often goes undetectedRichard J L F Lemmers, Michiel J R van der Wielen, Egbert Bakker, et al.
European Journal of Human Genetics : EJHG|April 19, 2007
A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndromeJohannes G Dauwerse, Bert B A de Vries, Cokkie H Wouters, et al.
Pageof 6

Showing results (11-20 of 52) with videos related to

Sort By:
Pageof 6
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|October 18, 2012
Van Buchem disease: clinical, biochemical, and densitometric features of patients and disease carriersAntoon H van Lierop, Neveen A T Hamdy, Martje E van Egmond, et al.
Human Mutation|April 17, 2009
Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScannerNienke van der Stoep, Chantal D M van Paridon, Tom Janssens, et al.
European Journal of Human Genetics : EJHG|November 25, 2010
Experiences with array-based sequence capture; toward clinical applicationsRowida Almomani, Jaap van der Heijden, Yavuz Ariyurek, et al.
European Journal of Human Genetics : EJHG|March 9, 2017
European registration process for Clinical Laboratory Geneticists in genetic healthcareThomas Liehr, Isabel M Carreira, Dilek Aktas, et al.
Blood Cells, Molecules & Diseases|November 29, 2007
A novel (Leu183Pro-)mutation in the HFE-gene co-inherited with the Cys282Tyr mutation in two unrelated Dutch hemochromatosis patientsDorine W Swinkels, Hanka Venselaar, Erwin T Wiegerinck, et al.
European Journal of Medical Genetics|June 13, 2008
A 400kb duplication, 2.4Mb triplication and 130kb duplication of 9q34.3 in a patient with severe mental retardationAntoinet C J Gijsbers, Emilia K Bijlsma, Marjan M Weiss, et al.
Muscle & Nerve|June 15, 2010
Pre- and postsynaptic neuromuscular junction abnormalities in musk myastheniaErik H Niks, Jan B M Kuks, John H J Wokke, et al.
European Journal of Human Genetics : EJHG|June 15, 2007
Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature reviewMaartje Nielsen, Elsa Bik, Frederik J Hes, et al.
Annals of Neurology|June 3, 2004
Somatic mosaicism in FSHD often goes undetectedRichard J L F Lemmers, Michiel J R van der Wielen, Egbert Bakker, et al.
European Journal of Human Genetics : EJHG|April 19, 2007
A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndromeJohannes G Dauwerse, Bert B A de Vries, Cokkie H Wouters, et al.
Pageof 6