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Rachel Schot

Showing results (11-20 of 63) with videos related to

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American Journal of Medical Genetics. Part A|May 16, 2012
Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARXRenske Oegema, Anneke Maat-Kievit, Maarten H Lequin, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 30, 2021
A novel family illustrating the mild phenotypic spectrum of TUBB2B variantsJordy Dekker, Karin E M Diderich, Rachel Schot, et al.
Archives of Neurology|March 12, 2008
Cortical brain malformations: effect of clinical, neuroradiological, and modern genetic classificationMarie Claire Yvette de Wit, Maarten H Lequin, Ireneaus F M de Coo, et al.
Molecular Genetics and Metabolism|December 20, 2014
Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemiaMark Nellist, Rachel Schot, Marianne Hoogeveen-Westerveld, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 30, 2021
Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticistGrazia M S Mancini, Daphne J Smits, Jordy Dekker, et al.
Development (Cambridge, England)|September 2, 2025
The non-canonical thioreductase Tmx2b is essential for neuronal survival during zebrafish embryonic brain developmentJordy Dekker, Wendy Lam, Herma C van der Linde, et al.
Neurobiology of Disease|July 19, 2005
Sialin, an anion transporter defective in sialic acid storage diseases, shows highly variable expression in adult mouse brain, and is developmentally regulatedNatalia Yarovaya, Rachel Schot, Lisa Fodero, et al.
Human Genetics|December 20, 2022
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopmentDaphne J Smits, Jordy Dekker, Rachel Schot, et al.
Iscience|April 23, 2026
ISGylation is disrupted by <i>UBA7</i> gene variants identified in individuals with neurodevelopmental disorder phenotypesVenkateshwarlu Bandi, Myrrhe Venema, Iona Wallace, et al.
Neurology|February 5, 2016
CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesiaGrazia M S Mancini, Rachel Schot, Marie Claire Y de Wit, et al.
Pageof 7

Showing results (11-20 of 63) with videos related to

Sort By:
Pageof 7
American Journal of Medical Genetics. Part A|May 16, 2012
Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARXRenske Oegema, Anneke Maat-Kievit, Maarten H Lequin, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 30, 2021
A novel family illustrating the mild phenotypic spectrum of TUBB2B variantsJordy Dekker, Karin E M Diderich, Rachel Schot, et al.
Archives of Neurology|March 12, 2008
Cortical brain malformations: effect of clinical, neuroradiological, and modern genetic classificationMarie Claire Yvette de Wit, Maarten H Lequin, Ireneaus F M de Coo, et al.
Molecular Genetics and Metabolism|December 20, 2014
Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemiaMark Nellist, Rachel Schot, Marianne Hoogeveen-Westerveld, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 30, 2021
Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticistGrazia M S Mancini, Daphne J Smits, Jordy Dekker, et al.
Development (Cambridge, England)|September 2, 2025
The non-canonical thioreductase Tmx2b is essential for neuronal survival during zebrafish embryonic brain developmentJordy Dekker, Wendy Lam, Herma C van der Linde, et al.
Neurobiology of Disease|July 19, 2005
Sialin, an anion transporter defective in sialic acid storage diseases, shows highly variable expression in adult mouse brain, and is developmentally regulatedNatalia Yarovaya, Rachel Schot, Lisa Fodero, et al.
Human Genetics|December 20, 2022
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopmentDaphne J Smits, Jordy Dekker, Rachel Schot, et al.
Iscience|April 23, 2026
ISGylation is disrupted by <i>UBA7</i> gene variants identified in individuals with neurodevelopmental disorder phenotypesVenkateshwarlu Bandi, Myrrhe Venema, Iona Wallace, et al.
Neurology|February 5, 2016
CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesiaGrazia M S Mancini, Rachel Schot, Marie Claire Y de Wit, et al.
Pageof 7