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Esther Meyer

Showing results (41-50 of 61) with videos related to

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Epilepsia|June 14, 2012
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancyAnnapurna Poduri, Sameer S Chopra, Edward G Neilan, et al.
Clinical Endocrinology|August 20, 2010
Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidismHakan Cangul, Neil V Morgan, Julia R Forman, et al.
The Lancet. Neurology|November 30, 2010
Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental studyManju A Kurian, Yan Li, Juan Zhen, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 31, 2020
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-DystoniaJoanne Ng, Elisenda Cortès-Saladelafont, Lucia Abela, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 2, 2022
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement DisordersBelén Pérez-Dueñas, Kathleen Gorman, Anna Marcé-Grau, et al.
Neurology|December 3, 2017
Clinical and molecular characterization of <i>KCNT1</i>-related severe early-onset epilepsyAmy McTague, Umesh Nair, Sony Malhotra, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 11, 2016
Phenotypic insights into ADCY5-associated diseaseFlorence C F Chang, Ana Westenberger, Russell C Dale, et al.
Neurology|April 1, 2016
Delineation of the movement disorders associated with FOXG1 mutationsApostolos Papandreou, Ruth B Schneider, Erika F Augustine, et al.
Nature Communications|September 4, 2015
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizuresTommy Stödberg, Amy McTague, Arnaud J Ruiz, et al.
American Journal of Human Genetics|April 9, 2016
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal LesionsNiccolò E Mencacci, Erik-Jan Kamsteeg, Kosuke Nakashima, et al.
Pageof 7

Showing results (41-50 of 61) with videos related to

Sort By:
Pageof 7
Epilepsia|June 14, 2012
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancyAnnapurna Poduri, Sameer S Chopra, Edward G Neilan, et al.
Clinical Endocrinology|August 20, 2010
Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidismHakan Cangul, Neil V Morgan, Julia R Forman, et al.
The Lancet. Neurology|November 30, 2010
Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental studyManju A Kurian, Yan Li, Juan Zhen, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 31, 2020
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-DystoniaJoanne Ng, Elisenda Cortès-Saladelafont, Lucia Abela, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 2, 2022
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement DisordersBelén Pérez-Dueñas, Kathleen Gorman, Anna Marcé-Grau, et al.
Neurology|December 3, 2017
Clinical and molecular characterization of <i>KCNT1</i>-related severe early-onset epilepsyAmy McTague, Umesh Nair, Sony Malhotra, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 11, 2016
Phenotypic insights into ADCY5-associated diseaseFlorence C F Chang, Ana Westenberger, Russell C Dale, et al.
Neurology|April 1, 2016
Delineation of the movement disorders associated with FOXG1 mutationsApostolos Papandreou, Ruth B Schneider, Erika F Augustine, et al.
Nature Communications|September 4, 2015
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizuresTommy Stödberg, Amy McTague, Arnaud J Ruiz, et al.
American Journal of Human Genetics|April 9, 2016
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal LesionsNiccolò E Mencacci, Erik-Jan Kamsteeg, Kosuke Nakashima, et al.
Pageof 7