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Neurology. Genetics

Showing results (411-420 of 1,014) with videos related to

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Neurology. Genetics|February 15, 2018
Erratum: Mutation of <i>TBCK</i> causes a rare recessive developmental disorder
Neurology. Genetics|June 8, 2017
<i>ARHGEF9</i> mutations cause a specific recognizable X-linked intellectual disability syndromePasquale Striano, Federico Zara
Neurology. Genetics|May 19, 2017
Biallelic <i>TOR1A</i> variants in an infant with severe arthrogryposisSara Chadwick Reichert, Pedro Gonzalez-Alegre, Gunter H Scharer
Neurology. Genetics|August 2, 2018
Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophyCarola Hedberg-Oldfors, Christopher Lindberg, Anders Oldfors
Neurology. Genetics|August 2, 2018
Independent <i>NF1</i> mutations underlie café-au-lait macule development in a woman with segmental NF1Morgan E Freret, Corina Anastasaki, David H Gutmann
Neurology. Genetics|September 9, 2016
Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)Jennifer Hirst, Marianna Madeo, Katrien Smets, et al.
Neurology. Genetics|September 21, 2016
GBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysisVictoria Mallett, Jay P Ross, Roy N Alcalay, et al.
Neurology. Genetics|September 2, 2016
Pub-Med-dot-com, here we come!Stefan M Pulst
Neurology. Genetics|September 8, 2016
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patientsJohn J Millichap, Kristen L Park, Tammy Tsuchida, et al.
Neurology. Genetics|May 17, 2017
Intragenic <i>DOK7</i> deletion detected by whole-genome sequencing in congenital myasthenic syndromesYoshiteru Azuma, Ana Töpf, Teresinha Evangelista, et al.
Pageof 102

Showing results (411-420 of 1,014) with videos related to

Sort By:
Pageof 102
Neurology. Genetics|February 15, 2018
Erratum: Mutation of <i>TBCK</i> causes a rare recessive developmental disorder
Neurology. Genetics|June 8, 2017
<i>ARHGEF9</i> mutations cause a specific recognizable X-linked intellectual disability syndromePasquale Striano, Federico Zara
Neurology. Genetics|May 19, 2017
Biallelic <i>TOR1A</i> variants in an infant with severe arthrogryposisSara Chadwick Reichert, Pedro Gonzalez-Alegre, Gunter H Scharer
Neurology. Genetics|August 2, 2018
Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophyCarola Hedberg-Oldfors, Christopher Lindberg, Anders Oldfors
Neurology. Genetics|August 2, 2018
Independent <i>NF1</i> mutations underlie café-au-lait macule development in a woman with segmental NF1Morgan E Freret, Corina Anastasaki, David H Gutmann
Neurology. Genetics|September 9, 2016
Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)Jennifer Hirst, Marianna Madeo, Katrien Smets, et al.
Neurology. Genetics|September 21, 2016
GBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysisVictoria Mallett, Jay P Ross, Roy N Alcalay, et al.
Neurology. Genetics|September 2, 2016
Pub-Med-dot-com, here we come!Stefan M Pulst
Neurology. Genetics|September 8, 2016
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patientsJohn J Millichap, Kristen L Park, Tammy Tsuchida, et al.
Neurology. Genetics|May 17, 2017
Intragenic <i>DOK7</i> deletion detected by whole-genome sequencing in congenital myasthenic syndromesYoshiteru Azuma, Ana Töpf, Teresinha Evangelista, et al.
Pageof 102