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Brain : a Journal of Neurology
|
April 20, 2022
Somatic variants in diverse genes leads to a spectrum of focal cortical malformations
Dulcie Lai, Meethila Gade, Edward Yang, et al.
Cell Reports
|
July 26, 2018
The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles
Michael E Coulter, Cristina M Dorobantu, Gerrald A Lodewijk, et al.
Brain : a Journal of Neurology
|
October 31, 2022
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15
Afshin Saffari, Melanie Kellner, Catherine Jordan, et al.
Biorxiv : the Preprint Server for Biology
|
March 23, 2026
Disrupted O-GalNAc glycosylation as a mechanism and biomarker of <i>SLC35A2</i> -associated epilepsy
Robert G Mealer, James J Anderson, Sheridan L Smith, et al.
Geroscience
|
January 25, 2020
Loss of vacuolar acidity results in iron-sulfur cluster defects and divergent homeostatic responses during aging in Saccharomyces cerevisiae
Kenneth L Chen, Toby N Ven, Matthew M Crane, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 3, 2021
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features
Diane D Shao, Rachel Straussberg, Hind Ahmed, et al.
Neurology
|
October 28, 2022
Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the <i>SLC35A2</i> Gene
Carmen Barba, Ingmar Blumcke, Melodie R Winawer, et al.
Developmental Cell
|
October 13, 2022
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis
Xuyu Qian, Ellen M DeGennaro, Maya Talukdar, et al.
Neuro-Oncology
|
January 21, 2017
Clinical targeted exome-based sequencing in combination with genome-wide copy number profiling: precision medicine analysis of 203 pediatric brain tumors
Shakti H Ramkissoon, Pratiti Bandopadhayay, Jaeho Hwang, et al.
Nature Genetics
|
October 23, 2023
Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy
Katherine E Miller, Adithe C Rivaldi, Noriyuki Shinagawa, et al.
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Search research articles
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Showing results (161-170 of 181) with videos related to
Sort By:
Page
of 19
Brain : a Journal of Neurology
|
April 20, 2022
Somatic variants in diverse genes leads to a spectrum of focal cortical malformations
Dulcie Lai, Meethila Gade, Edward Yang, et al.
Cell Reports
|
July 26, 2018
The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles
Michael E Coulter, Cristina M Dorobantu, Gerrald A Lodewijk, et al.
Brain : a Journal of Neurology
|
October 31, 2022
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15
Afshin Saffari, Melanie Kellner, Catherine Jordan, et al.
Biorxiv : the Preprint Server for Biology
|
March 23, 2026
Disrupted O-GalNAc glycosylation as a mechanism and biomarker of <i>SLC35A2</i> -associated epilepsy
Robert G Mealer, James J Anderson, Sheridan L Smith, et al.
Geroscience
|
January 25, 2020
Loss of vacuolar acidity results in iron-sulfur cluster defects and divergent homeostatic responses during aging in Saccharomyces cerevisiae
Kenneth L Chen, Toby N Ven, Matthew M Crane, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 3, 2021
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features
Diane D Shao, Rachel Straussberg, Hind Ahmed, et al.
Neurology
|
October 28, 2022
Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the <i>SLC35A2</i> Gene
Carmen Barba, Ingmar Blumcke, Melodie R Winawer, et al.
Developmental Cell
|
October 13, 2022
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis
Xuyu Qian, Ellen M DeGennaro, Maya Talukdar, et al.
Neuro-Oncology
|
January 21, 2017
Clinical targeted exome-based sequencing in combination with genome-wide copy number profiling: precision medicine analysis of 203 pediatric brain tumors
Shakti H Ramkissoon, Pratiti Bandopadhayay, Jaeho Hwang, et al.
Nature Genetics
|
October 23, 2023
Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy
Katherine E Miller, Adithe C Rivaldi, Noriyuki Shinagawa, et al.
Page
of 19