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Neurology. Genetics

Showing results (521-530 of 842) with videos related to

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Neurology. Genetics|December 22, 2017
Clinical heterogeneity and phenotype/genotype findings in 5 families with <i>GYG1</i> deficiencyRabah Ben Yaou, Aurélie Hubert, Isabelle Nelson, et al.
Neurology. Genetics|February 24, 2018
Duplications at 19q13.33 in patients with neurodevelopmental disordersEduardo Pérez-Palma, Elmo Saarentaus, Marie Ravoet, et al.
Neurology. Genetics|February 24, 2018
<i>CYP2C19</i> variant mitigates Alzheimer disease pathophysiology in vivo and postmortemAndréa L Benedet, Lei Yu, Aurélie Labbe, et al.
Neurology. Genetics|December 12, 2018
Delineating <i>FOXG1</i> syndrome: From congenital microcephaly to hyperkinetic encephalopathyNancy Vegas, Mara Cavallin, Camille Maillard, et al.
Neurology. Genetics|December 12, 2018
Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotypeNataly I Montes-Chinea, Zhuo Guan, Marcella Coutts, et al.
Neurology. Genetics|December 12, 2018
TPP2 mutation associated with sterile brain inflammation mimicking MSEva M Reinthaler, Elisabeth Graf, Tobias Zrzavy, et al.
Neurology. Genetics|December 26, 2018
No rare deleterious variants from <i>STK32B</i>, <i>PPARGC1A</i>, and <i>CTNNA3</i> are associated with essential tremorGabrielle Houle, Amirthagowri Ambalavanan, Jean-François Schmouth, et al.
Neurology. Genetics|December 26, 2018
Copy number loss in <i>SFMBT1</i> is common among Finnish and Norwegian patients with iNPHVille E Korhonen, Seppo Helisalmi, Aleksi Jokinen, et al.
Neurology. Genetics|December 28, 2018
Erratum: Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations
Neurology. Genetics|January 15, 2019
Screening of novel restless legs syndrome-associated genes in French-Canadian familiesFulya Akçimen, Dan Spiegelman, Alexandre Dionne-Laporte, et al.
Pageof 85

Showing results (521-530 of 842) with videos related to

Sort By:
Pageof 85
Neurology. Genetics|December 22, 2017
Clinical heterogeneity and phenotype/genotype findings in 5 families with <i>GYG1</i> deficiencyRabah Ben Yaou, Aurélie Hubert, Isabelle Nelson, et al.
Neurology. Genetics|February 24, 2018
Duplications at 19q13.33 in patients with neurodevelopmental disordersEduardo Pérez-Palma, Elmo Saarentaus, Marie Ravoet, et al.
Neurology. Genetics|February 24, 2018
<i>CYP2C19</i> variant mitigates Alzheimer disease pathophysiology in vivo and postmortemAndréa L Benedet, Lei Yu, Aurélie Labbe, et al.
Neurology. Genetics|December 12, 2018
Delineating <i>FOXG1</i> syndrome: From congenital microcephaly to hyperkinetic encephalopathyNancy Vegas, Mara Cavallin, Camille Maillard, et al.
Neurology. Genetics|December 12, 2018
Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotypeNataly I Montes-Chinea, Zhuo Guan, Marcella Coutts, et al.
Neurology. Genetics|December 12, 2018
TPP2 mutation associated with sterile brain inflammation mimicking MSEva M Reinthaler, Elisabeth Graf, Tobias Zrzavy, et al.
Neurology. Genetics|December 26, 2018
No rare deleterious variants from <i>STK32B</i>, <i>PPARGC1A</i>, and <i>CTNNA3</i> are associated with essential tremorGabrielle Houle, Amirthagowri Ambalavanan, Jean-François Schmouth, et al.
Neurology. Genetics|December 26, 2018
Copy number loss in <i>SFMBT1</i> is common among Finnish and Norwegian patients with iNPHVille E Korhonen, Seppo Helisalmi, Aleksi Jokinen, et al.
Neurology. Genetics|December 28, 2018
Erratum: Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations
Neurology. Genetics|January 15, 2019
Screening of novel restless legs syndrome-associated genes in French-Canadian familiesFulya Akçimen, Dan Spiegelman, Alexandre Dionne-Laporte, et al.
Pageof 85