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Ilse M van der Werf

Showing results (1-10 of 9) with videos related to

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Plos One|April 16, 2015
A robust protocol to increase NimbleGen SeqCap EZ multiplexing capacity to 96 samplesIlse M van der Werf, R Frank Kooy, Geert Vandeweyer
European Journal of Human Genetics : EJHG|July 14, 2016
Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndromeIlse M van der Werf, Karin Buiting, Christina Czeschik, et al.
Gene|December 21, 2016
Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disabilityIlse M van der Werf, Anke Van Dijck, Edwin Reyniers, et al.
Molecular Genetics & Genomic Medicine|January 12, 2019
RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromasGavin R Oliver, Patrick R Blackburn, Marissa S Ellingson, et al.
European Journal of Human Genetics : EJHG|July 12, 2020
Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disordersIlse M van der Werf, Sandra Jansen, Petra F de Vries, et al.
European Journal of Medical Genetics|September 2, 2015
Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similaritiesAnke Van Dijck, Ilse M van der Werf, Edwin Reyniers, et al.
European Journal of Human Genetics : EJHG|June 22, 2017
New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndromeJasmin Beygo, Alma Küchler, Gabriele Gillessen-Kaesbach, et al.
Biological Psychiatry|May 5, 2018
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNPAnke Van Dijck, Anneke T Vulto-van Silfhout, Elisa Cappuyns, et al.
European Journal of Human Genetics : EJHG|January 26, 2019
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphismsSandra Jansen, Ilse M van der Werf, A Micheil Innes, et al.
Pageof 1

Showing results (1-10 of 9) with videos related to

Sort By:
Pageof 1
Plos One|April 16, 2015
A robust protocol to increase NimbleGen SeqCap EZ multiplexing capacity to 96 samplesIlse M van der Werf, R Frank Kooy, Geert Vandeweyer
European Journal of Human Genetics : EJHG|July 14, 2016
Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndromeIlse M van der Werf, Karin Buiting, Christina Czeschik, et al.
Gene|December 21, 2016
Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disabilityIlse M van der Werf, Anke Van Dijck, Edwin Reyniers, et al.
Molecular Genetics & Genomic Medicine|January 12, 2019
RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromasGavin R Oliver, Patrick R Blackburn, Marissa S Ellingson, et al.
European Journal of Human Genetics : EJHG|July 12, 2020
Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disordersIlse M van der Werf, Sandra Jansen, Petra F de Vries, et al.
European Journal of Medical Genetics|September 2, 2015
Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similaritiesAnke Van Dijck, Ilse M van der Werf, Edwin Reyniers, et al.
European Journal of Human Genetics : EJHG|June 22, 2017
New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndromeJasmin Beygo, Alma Küchler, Gabriele Gillessen-Kaesbach, et al.
Biological Psychiatry|May 5, 2018
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNPAnke Van Dijck, Anneke T Vulto-van Silfhout, Elisa Cappuyns, et al.
European Journal of Human Genetics : EJHG|January 26, 2019
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphismsSandra Jansen, Ilse M van der Werf, A Micheil Innes, et al.
Pageof 1