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H Willemsen

Showing results (161-170 of 180) with videos related to

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European Archives of Oto-Rhino-Laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery|December 20, 2020
European white paper: oropharyngeal dysphagia in head and neck cancerLaura W J Baijens, Margaret Walshe, Leena-Maija Aaltonen, et al.
American Journal of Human Genetics|March 28, 2017
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability SyndromeSandra Jansen, Sinje Geuer, Rolph Pfundt, et al.
The Journal of Clinical Investigation|March 12, 2014
Dominant β-catenin mutations cause intellectual disability with recognizable syndromic featuresValter Tucci, Tjitske Kleefstra, Andrea Hardy, et al.
Human Molecular Genetics|May 17, 2023
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networksMaria W A Teunissen, Elly Lewerissa, Eline J H van Hugte, et al.
Nature Genetics|July 12, 2016
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrityJosefine S Witteveen, Marjolein H Willemsen, Thaís C D Dombroski, et al.
Journal of Medical Genetics|January 26, 2017
<i>STAG1</i> mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disabilityDaphné Lehalle, Anne-Laure Mosca-Boidron, Amber Begtrup, et al.
Journal of Medical Genetics|October 15, 2013
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencingJanneke H M Schuurs-Hoeijmakers, Anneke T Vulto-van Silfhout, Lisenka E L M Vissers, et al.
Human Genetics|October 20, 2014
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrumAlma Kuechler, Marjolein H Willemsen, Beate Albrecht, et al.
Human Mutation|March 21, 2020
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathyGemma L Carvill, Katherine L Helbig, Candace T Myers, et al.
Molecular Psychiatry|April 30, 2020
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndromeJoost Kummeling, Diante E Stremmelaar, Nicholas Raun, et al.
Pageof 18

Showing results (161-170 of 180) with videos related to

Sort By:
Pageof 18
European Archives of Oto-Rhino-Laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery|December 20, 2020
European white paper: oropharyngeal dysphagia in head and neck cancerLaura W J Baijens, Margaret Walshe, Leena-Maija Aaltonen, et al.
American Journal of Human Genetics|March 28, 2017
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability SyndromeSandra Jansen, Sinje Geuer, Rolph Pfundt, et al.
The Journal of Clinical Investigation|March 12, 2014
Dominant β-catenin mutations cause intellectual disability with recognizable syndromic featuresValter Tucci, Tjitske Kleefstra, Andrea Hardy, et al.
Human Molecular Genetics|May 17, 2023
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networksMaria W A Teunissen, Elly Lewerissa, Eline J H van Hugte, et al.
Nature Genetics|July 12, 2016
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrityJosefine S Witteveen, Marjolein H Willemsen, Thaís C D Dombroski, et al.
Journal of Medical Genetics|January 26, 2017
<i>STAG1</i> mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disabilityDaphné Lehalle, Anne-Laure Mosca-Boidron, Amber Begtrup, et al.
Journal of Medical Genetics|October 15, 2013
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencingJanneke H M Schuurs-Hoeijmakers, Anneke T Vulto-van Silfhout, Lisenka E L M Vissers, et al.
Human Genetics|October 20, 2014
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrumAlma Kuechler, Marjolein H Willemsen, Beate Albrecht, et al.
Human Mutation|March 21, 2020
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathyGemma L Carvill, Katherine L Helbig, Candace T Myers, et al.
Molecular Psychiatry|April 30, 2020
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndromeJoost Kummeling, Diante E Stremmelaar, Nicholas Raun, et al.
Pageof 18