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H Willemsen

Showing results (141-150 of 180) with videos related to

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Clinical Genetics|February 22, 2024
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profileDmitrijs Rots, Kathleen Rooney, Raissa Relator, et al.
Epilepsia|December 8, 2018
Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disabilityFrancesca M Snoeijen-Schouwenaars, Jans S van Ool, Judith S Verhoeven, et al.
Plos Genetics|October 26, 2017
Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorderTom S Koemans, Tjitske Kleefstra, Melissa C Chubak, et al.
American Journal of Human Genetics|February 24, 2015
Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problemsZafar Iqbal, Marjolein H Willemsen, Marie-Amélie Papon, et al.
Nature|June 5, 2014
Genome sequencing identifies major causes of severe intellectual disabilityChristian Gilissen, Jayne Y Hehir-Kwa, Djie Tjwan Thung, et al.
Clinical Nutrition (Edinburgh, Scotland)|December 9, 2021
Development and external validation of a prediction model for tube feeding dependency for at least four weeks during chemoradiotherapy for head and neck cancerAnna C H Willemsen, Annemieke Kok, Laura W J Baijens, et al.
Journal of Neurophysiology|May 18, 2022
Human <i>KCNQ5</i> de novo mutations underlie epilepsy and intellectual disabilityAguan D Wei, Paul Wakenight, Theresa A Zwingman, 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.
American Journal of Human Genetics|June 26, 2012
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disabilityTjitske Kleefstra, Jamie M Kramer, Kornelia Neveling, et al.
Prenatal Diagnosis|January 17, 2023
All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experienceBrigitte H W Faas, Dineke Westra, Sonja A de Munnik, et al.
Pageof 18

Showing results (141-150 of 180) with videos related to

Sort By:
Pageof 18
Clinical Genetics|February 22, 2024
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profileDmitrijs Rots, Kathleen Rooney, Raissa Relator, et al.
Epilepsia|December 8, 2018
Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disabilityFrancesca M Snoeijen-Schouwenaars, Jans S van Ool, Judith S Verhoeven, et al.
Plos Genetics|October 26, 2017
Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorderTom S Koemans, Tjitske Kleefstra, Melissa C Chubak, et al.
American Journal of Human Genetics|February 24, 2015
Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problemsZafar Iqbal, Marjolein H Willemsen, Marie-Amélie Papon, et al.
Nature|June 5, 2014
Genome sequencing identifies major causes of severe intellectual disabilityChristian Gilissen, Jayne Y Hehir-Kwa, Djie Tjwan Thung, et al.
Clinical Nutrition (Edinburgh, Scotland)|December 9, 2021
Development and external validation of a prediction model for tube feeding dependency for at least four weeks during chemoradiotherapy for head and neck cancerAnna C H Willemsen, Annemieke Kok, Laura W J Baijens, et al.
Journal of Neurophysiology|May 18, 2022
Human <i>KCNQ5</i> de novo mutations underlie epilepsy and intellectual disabilityAguan D Wei, Paul Wakenight, Theresa A Zwingman, 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.
American Journal of Human Genetics|June 26, 2012
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disabilityTjitske Kleefstra, Jamie M Kramer, Kornelia Neveling, et al.
Prenatal Diagnosis|January 17, 2023
All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experienceBrigitte H W Faas, Dineke Westra, Sonja A de Munnik, et al.
Pageof 18