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M H Willemsen

Showing results (1-10 of 12) with videos related to

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Clinical Genetics|July 31, 2013
Making headway with genetic diagnostics of intellectual disabilitiesM H Willemsen, T Kleefstra
Journal of the Neurological Sciences|June 2, 2017
Paroxysmal sensory (spinal) attacks without hyperexplexia in a patient with a variant in the GLRA1 geneM J Zwarts, M H Willemsen, E-J Kamsteeg, et al.
Poultry Science|September 1, 1997
Responses of meat-type chickens to choice feeding of diets differing in protein and energy from hatch to market weightP B Siegel, M Picard, I Nir, et al.
Molecular Syndromology|June 7, 2012
Adult Phenotypes in Angelman- and Rett-Like SyndromesM H Willemsen, J H M Rensen, H M J van Schrojenstein-Lantman de Valk, et al.
Epilepsy & Behavior : E&B|May 26, 2015
Autism and behavior in adult patients with Dravet syndrome (DS)J J L Berkvens, I Veugen, M J B M Veendrick-Meekes, et al.
Clinical Genetics|January 12, 2016
De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrumS Jansen, T Kleefstra, M H Willemsen, et al.
Clinical Genetics|January 6, 2011
Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletionsM H Willemsen, G Beunders, M Callaghan, et al.
Molecular Psychiatry|February 25, 2015
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and IDB W M van Bon, B P Coe, R Bernier, et al.
Molecular Syndromology|December 6, 2011
Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 MicroduplicationsJ Wincent, D L Bruno, B W M van Bon, et al.
Clinical Genetics|February 3, 2018
De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further reviewW M R van den Akker, I Brummelman, L M Martis, et al.
Pageof 2

Showing results (1-10 of 12) with videos related to

Sort By:
Pageof 2
Clinical Genetics|July 31, 2013
Making headway with genetic diagnostics of intellectual disabilitiesM H Willemsen, T Kleefstra
Journal of the Neurological Sciences|June 2, 2017
Paroxysmal sensory (spinal) attacks without hyperexplexia in a patient with a variant in the GLRA1 geneM J Zwarts, M H Willemsen, E-J Kamsteeg, et al.
Poultry Science|September 1, 1997
Responses of meat-type chickens to choice feeding of diets differing in protein and energy from hatch to market weightP B Siegel, M Picard, I Nir, et al.
Molecular Syndromology|June 7, 2012
Adult Phenotypes in Angelman- and Rett-Like SyndromesM H Willemsen, J H M Rensen, H M J van Schrojenstein-Lantman de Valk, et al.
Epilepsy & Behavior : E&B|May 26, 2015
Autism and behavior in adult patients with Dravet syndrome (DS)J J L Berkvens, I Veugen, M J B M Veendrick-Meekes, et al.
Clinical Genetics|January 12, 2016
De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrumS Jansen, T Kleefstra, M H Willemsen, et al.
Clinical Genetics|January 6, 2011
Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletionsM H Willemsen, G Beunders, M Callaghan, et al.
Molecular Psychiatry|February 25, 2015
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and IDB W M van Bon, B P Coe, R Bernier, et al.
Molecular Syndromology|December 6, 2011
Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 MicroduplicationsJ Wincent, D L Bruno, B W M van Bon, et al.
Clinical Genetics|February 3, 2018
De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further reviewW M R van den Akker, I Brummelman, L M Martis, et al.
Pageof 2