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H Willemsen

Showing results (151-160 of 180) with videos related to

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Journal of Medical Genetics|May 7, 2013
GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in DrosophilaMarjolein H Willemsen, Bonnie Nijhof, Michaela Fenckova, et al.
Nature Neuroscience|August 2, 2016
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disabilityStefan H Lelieveld, Margot R F Reijnders, Rolph Pfundt, 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.
Journal of Medical Genetics|March 7, 2009
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotypeT Kleefstra, W A van Zelst-Stams, W M Nillesen, et al.
Nature Genetics|February 18, 2014
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNPCéline Helsmoortel, Anneke T Vulto-van Silfhout, Bradley P Coe, et al.
European Journal of Human Genetics : EJHG|November 27, 2014
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrationsCharlotte W Ockeloen, Marjolein H Willemsen, Sonja de Munnik, et al.
Ebiomedicine|July 3, 2022
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanismFrancesco Miceli, Charissa Millevert, Maria Virginia Soldovieri, et al.
The Journal of Clinical Investigation|July 14, 2015
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disabilityGunnar Houge, Dorien Haesen, Lisenka E L M Vissers, et al.
Molecular Syndromology|June 7, 2012
Update on Kleefstra SyndromeM H Willemsen, A T Vulto-van Silfhout, W M Nillesen, et al.
Lancet (London, England)|September 21, 2025
Minimum effective low dose of antithymocyte globulin in people aged 5-25 years with recent-onset stage 3 type 1 diabetes (MELD-ATG): a phase 2, multicentre, double-blind, randomised, placebo-controlled, adaptive dose-ranging trialChantal Mathieu, Julie Wych, A Emile J Hendriks, et al.
Pageof 18

Showing results (151-160 of 180) with videos related to

Sort By:
Pageof 18
Journal of Medical Genetics|May 7, 2013
GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in DrosophilaMarjolein H Willemsen, Bonnie Nijhof, Michaela Fenckova, et al.
Nature Neuroscience|August 2, 2016
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disabilityStefan H Lelieveld, Margot R F Reijnders, Rolph Pfundt, 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.
Journal of Medical Genetics|March 7, 2009
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotypeT Kleefstra, W A van Zelst-Stams, W M Nillesen, et al.
Nature Genetics|February 18, 2014
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNPCéline Helsmoortel, Anneke T Vulto-van Silfhout, Bradley P Coe, et al.
European Journal of Human Genetics : EJHG|November 27, 2014
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrationsCharlotte W Ockeloen, Marjolein H Willemsen, Sonja de Munnik, et al.
Ebiomedicine|July 3, 2022
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanismFrancesco Miceli, Charissa Millevert, Maria Virginia Soldovieri, et al.
The Journal of Clinical Investigation|July 14, 2015
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disabilityGunnar Houge, Dorien Haesen, Lisenka E L M Vissers, et al.
Molecular Syndromology|June 7, 2012
Update on Kleefstra SyndromeM H Willemsen, A T Vulto-van Silfhout, W M Nillesen, et al.
Lancet (London, England)|September 21, 2025
Minimum effective low dose of antithymocyte globulin in people aged 5-25 years with recent-onset stage 3 type 1 diabetes (MELD-ATG): a phase 2, multicentre, double-blind, randomised, placebo-controlled, adaptive dose-ranging trialChantal Mathieu, Julie Wych, A Emile J Hendriks, et al.
Pageof 18