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H Willemsen

Showing results (131-140 of 180) with videos related to

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Clinical Endocrinology|November 21, 2014
New insights into factors influencing adult height in short SGA children: Results of a large multicentre growth hormone trialJ S Renes, R H Willemsen, J C Mulder, et al.
Journal of Medical Genetics|March 1, 2015
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsyMaxime G Blanchard, Marjolein H Willemsen, Jaclyn B Walker, et al.
Journal of Neuro-Oncology|November 17, 2022
Correlation of reduced temporal muscle thickness and systemic muscle loss in newly diagnosed glioblastoma patientsCecil Ten Cate, Sandra M H Huijs, Anna C H Willemsen, et al.
BMC Medical Genetics|January 22, 2011
Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disabilityCecile Pagan, Hany Goubran Botros, Karine Poirier, et al.
American Journal of Human Genetics|December 23, 2023
A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genesErica L Harris, Vincent Roy, Martin Montagne, et al.
Genome Medicine|December 24, 2017
B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathiesReza Maroofian, Moniek Riemersma, Lucas T Jae, et al.
Epilepsia Open|July 28, 2023
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcomeNathan Buijsse, Floor E Jansen, Charlotte W Ockeloen, 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.
Journal of Medical Genetics|October 18, 2011
Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disabilityMarjolein H Willemsen, Astrid Vallès, Laurens A M H Kirkels, et al.
The New England Journal of Medicine|October 5, 2012
Diagnostic exome sequencing in persons with severe intellectual disabilityJoep de Ligt, Marjolein H Willemsen, Bregje W M van Bon, et al.
Pageof 18

Showing results (131-140 of 180) with videos related to

Sort By:
Pageof 18
Clinical Endocrinology|November 21, 2014
New insights into factors influencing adult height in short SGA children: Results of a large multicentre growth hormone trialJ S Renes, R H Willemsen, J C Mulder, et al.
Journal of Medical Genetics|March 1, 2015
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsyMaxime G Blanchard, Marjolein H Willemsen, Jaclyn B Walker, et al.
Journal of Neuro-Oncology|November 17, 2022
Correlation of reduced temporal muscle thickness and systemic muscle loss in newly diagnosed glioblastoma patientsCecil Ten Cate, Sandra M H Huijs, Anna C H Willemsen, et al.
BMC Medical Genetics|January 22, 2011
Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disabilityCecile Pagan, Hany Goubran Botros, Karine Poirier, et al.
American Journal of Human Genetics|December 23, 2023
A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genesErica L Harris, Vincent Roy, Martin Montagne, et al.
Genome Medicine|December 24, 2017
B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathiesReza Maroofian, Moniek Riemersma, Lucas T Jae, et al.
Epilepsia Open|July 28, 2023
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcomeNathan Buijsse, Floor E Jansen, Charlotte W Ockeloen, 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.
Journal of Medical Genetics|October 18, 2011
Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disabilityMarjolein H Willemsen, Astrid Vallès, Laurens A M H Kirkels, et al.
The New England Journal of Medicine|October 5, 2012
Diagnostic exome sequencing in persons with severe intellectual disabilityJoep de Ligt, Marjolein H Willemsen, Bregje W M van Bon, et al.
Pageof 18