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Neurogenetics

Showing results (171-180 of 1,080) with videos related to

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Neurogenetics|November 9, 2013
Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutationsTanit Arnedo, Chiara Aiello, Elena Jeworutzki, et al.
Neurogenetics|August 22, 2013
The L450F [Corrected] mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer togetherAnna Duarri, Esther Nibbeling, Michiel R Fokkens, et al.
Neurogenetics|August 27, 2013
Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3Ginevra Zanni, Chiara Scotton, Chiara Passarelli, et al.
Neurogenetics|August 17, 2013
Brachial amyotrophic diplegia associated with the a140a superoxide dismutase 1 mutationL Di Vito, D de Biase, A Pession, et al.
Neurogenetics|November 18, 2015
Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerizationSimon Edvardson, Haibo Wang, Talya Dor, et al.
Neurogenetics|January 25, 2016
A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screeningE H Gerkes, J M Fock, W F A den Dunnen, et al.
Neurogenetics|January 14, 2015
Hypothalamic differences in expression of genes involved in monoamine synthesis and signaling pathways after insulin injection in chickens from lines selected for high and low body weightWei Zhang, Sungwon Kim, Robert Settlage, et al.
Neurogenetics|November 30, 2014
Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalitiesRamona Salvarinova, Cynthia X Ye, Andrea Rossi, et al.
Neurogenetics|October 17, 2014
A comprehensive clinical and genetic study of a large Mexican population with spinocerebellar ataxia type 7L Velázquez-Pérez, C M Cerecedo-Zapata, O Hernández-Hernández, et al.
Neurogenetics|January 16, 2020
POLR3A variants with striatal involvement and extrapyramidal movement disorderInga Harting, Murtadha Al-Saady, Ingeborg Krägeloh-Mann, et al.
Pageof 108

Showing results (171-180 of 1,080) with videos related to

Sort By:
Pageof 108
Neurogenetics|November 9, 2013
Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutationsTanit Arnedo, Chiara Aiello, Elena Jeworutzki, et al.
Neurogenetics|August 22, 2013
The L450F [Corrected] mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer togetherAnna Duarri, Esther Nibbeling, Michiel R Fokkens, et al.
Neurogenetics|August 27, 2013
Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3Ginevra Zanni, Chiara Scotton, Chiara Passarelli, et al.
Neurogenetics|August 17, 2013
Brachial amyotrophic diplegia associated with the a140a superoxide dismutase 1 mutationL Di Vito, D de Biase, A Pession, et al.
Neurogenetics|November 18, 2015
Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerizationSimon Edvardson, Haibo Wang, Talya Dor, et al.
Neurogenetics|January 25, 2016
A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screeningE H Gerkes, J M Fock, W F A den Dunnen, et al.
Neurogenetics|January 14, 2015
Hypothalamic differences in expression of genes involved in monoamine synthesis and signaling pathways after insulin injection in chickens from lines selected for high and low body weightWei Zhang, Sungwon Kim, Robert Settlage, et al.
Neurogenetics|November 30, 2014
Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalitiesRamona Salvarinova, Cynthia X Ye, Andrea Rossi, et al.
Neurogenetics|October 17, 2014
A comprehensive clinical and genetic study of a large Mexican population with spinocerebellar ataxia type 7L Velázquez-Pérez, C M Cerecedo-Zapata, O Hernández-Hernández, et al.
Neurogenetics|January 16, 2020
POLR3A variants with striatal involvement and extrapyramidal movement disorderInga Harting, Murtadha Al-Saady, Ingeborg Krägeloh-Mann, et al.
Pageof 108