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Han G Brunner

Showing results (241-250 of 318) with videos related to

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Plos One|May 29, 2019
Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformationsRomy van de Putte, Charlotte H W Wijers, Heiko Reutter, 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.
American Journal of Human Genetics|December 26, 2017
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow SyndromeJanson J White, Juliana F Mazzeu, Zeynep Coban-Akdemir, et al.
Nature Communications|September 2, 2024
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testingAnouk E J Janssen, Rebekka M Koeck, Rick Essers, et al.
American Journal of Human Genetics|January 31, 2017
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia SyndromeMachteld M Oud, Paul Tuijnenburg, Maja Hempel, et al.
Nature Genetics|September 19, 2018
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylationM Felicia Basilicata, Ange-Line Bruel, Giuseppe Semplicio, et al.
JAMA|July 25, 2020
Presence of Genetic Variants Among Young Men With Severe COVID-19Caspar I van der Made, Annet Simons, Janneke Schuurs-Hoeijmakers, 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.
Nature Genetics|February 28, 2012
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndromeJean-Baptiste Rivière, Bregje W M van Bon, Alexander Hoischen, et al.
American Journal of Human Genetics|January 6, 2018
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental DisorderDavor Lessel, Claudia Schob, Sébastien Küry, et al.
Pageof 32

Showing results (241-250 of 318) with videos related to

Sort By:
Pageof 32
Plos One|May 29, 2019
Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformationsRomy van de Putte, Charlotte H W Wijers, Heiko Reutter, 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.
American Journal of Human Genetics|December 26, 2017
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow SyndromeJanson J White, Juliana F Mazzeu, Zeynep Coban-Akdemir, et al.
Nature Communications|September 2, 2024
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testingAnouk E J Janssen, Rebekka M Koeck, Rick Essers, et al.
American Journal of Human Genetics|January 31, 2017
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia SyndromeMachteld M Oud, Paul Tuijnenburg, Maja Hempel, et al.
Nature Genetics|September 19, 2018
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylationM Felicia Basilicata, Ange-Line Bruel, Giuseppe Semplicio, et al.
JAMA|July 25, 2020
Presence of Genetic Variants Among Young Men With Severe COVID-19Caspar I van der Made, Annet Simons, Janneke Schuurs-Hoeijmakers, 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.
Nature Genetics|February 28, 2012
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndromeJean-Baptiste Rivière, Bregje W M van Bon, Alexander Hoischen, et al.
American Journal of Human Genetics|January 6, 2018
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental DisorderDavor Lessel, Claudia Schob, Sébastien Küry, et al.
Pageof 32