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Sameer M Zuberi

Showing results (111-120 of 123) with videos related to

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Brain : a Journal of Neurology|June 13, 2022
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implicationsAndreas Brunklaus, Tobias Brünger, Tony Feng, et al.
Ebiomedicine|October 27, 2015
Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in EpilepsyCostin Leu, Simona Balestrini, Bridget Maher, et al.
The Journal of Biological Chemistry|June 16, 2012
Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle diseaseEloisa Carta, Seo-Kyung Chung, Victoria M James, et al.
Human Genetics|May 10, 2018
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorderLot Snijders Blok, Susan M Hiatt, Kevin M Bowling, et al.
Epilepsia|September 30, 2024
POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxiaJoseph D Symonds, Kristen L Park, Cyril Mignot, et al.
Epilepsia Open|March 8, 2021
A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsiesTobias Baumgartner, Mar Carreño, Rodrigo Rocamora, et al.
Journal of Inherited Metabolic Disease|November 17, 2020
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiencyCurtis R Coughlin, Laura A Tseng, Jose E Abdenur, et al.
Nature Genetics|April 2, 2014
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signalingGillian I Rice, Yoandris Del Toro Duany, Emma M Jenkinson, et al.
Human Mutation|January 4, 2020
Genetic and phenotypic spectrum associated with IFIH1 gain-of-functionGillian I Rice, Sehoon Park, Francesco Gavazzi, et al.
Nature Reviews. Neurology|May 19, 2023
Global synergistic actions to improve brain health for human developmentMayowa O Owolabi, Matilde Leonardi, Claudio Bassetti, et al.
Pageof 13

Showing results (111-120 of 123) with videos related to

Sort By:
Pageof 13
Brain : a Journal of Neurology|June 13, 2022
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implicationsAndreas Brunklaus, Tobias Brünger, Tony Feng, et al.
Ebiomedicine|October 27, 2015
Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in EpilepsyCostin Leu, Simona Balestrini, Bridget Maher, et al.
The Journal of Biological Chemistry|June 16, 2012
Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle diseaseEloisa Carta, Seo-Kyung Chung, Victoria M James, et al.
Human Genetics|May 10, 2018
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorderLot Snijders Blok, Susan M Hiatt, Kevin M Bowling, et al.
Epilepsia|September 30, 2024
POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxiaJoseph D Symonds, Kristen L Park, Cyril Mignot, et al.
Epilepsia Open|March 8, 2021
A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsiesTobias Baumgartner, Mar Carreño, Rodrigo Rocamora, et al.
Journal of Inherited Metabolic Disease|November 17, 2020
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiencyCurtis R Coughlin, Laura A Tseng, Jose E Abdenur, et al.
Nature Genetics|April 2, 2014
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signalingGillian I Rice, Yoandris Del Toro Duany, Emma M Jenkinson, et al.
Human Mutation|January 4, 2020
Genetic and phenotypic spectrum associated with IFIH1 gain-of-functionGillian I Rice, Sehoon Park, Francesco Gavazzi, et al.
Nature Reviews. Neurology|May 19, 2023
Global synergistic actions to improve brain health for human developmentMayowa O Owolabi, Matilde Leonardi, Claudio Bassetti, et al.
Pageof 13