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Brain : a Journal of Neurology
|
February 9, 2021
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy
Alistair T Pagnamenta, Rauan Kaiyrzhanov, Yaqun Zou, et al.
Human Mutation
|
April 13, 2021
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability
Sonja Neuser, Barbara Brechmann, Gali Heimer, et al.
European Journal of Human Genetics : EJHG
|
August 29, 2023
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology
Henry Oppermann, Elia Marcos-Grañeda, Linnea A Weiss, et al.
Acta Neuropathologica
|
April 29, 2023
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model
Ruizhi Deng, Eva Medico-Salsench, Anita Nikoncuk, et al.
Brain : a Journal of Neurology
|
December 18, 2024
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder
Gabriel N Aughey, Elisa Cali, Reza Maroofian, et al.
Science Translational Medicine
|
September 17, 2010
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability
Abdul Noor, Annabel Whibley, Christian R Marshall, et al.
Nature Communications
|
March 14, 2024
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
Viorica Chelban, Henriette Aksnes, Reza Maroofian, et al.
Neurology
|
June 10, 2016
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features
Simona Balestrini, Mathieu Milh, Claudia Castiglioni, et al.
American Journal of Human Genetics
|
May 22, 2024
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
Alistair T Pagnamenta, Jing Yu, Susan Walker, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 10, 2024
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data
Valentina Cipriani, Letizia Vestito, Emma F Magavern, et al.
Page
of 27
Search research articles
Search
Showing results (241-250 of 265) with videos related to
Sort By:
Page
of 27
Brain : a Journal of Neurology
|
February 9, 2021
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy
Alistair T Pagnamenta, Rauan Kaiyrzhanov, Yaqun Zou, et al.
Human Mutation
|
April 13, 2021
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability
Sonja Neuser, Barbara Brechmann, Gali Heimer, et al.
European Journal of Human Genetics : EJHG
|
August 29, 2023
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology
Henry Oppermann, Elia Marcos-Grañeda, Linnea A Weiss, et al.
Acta Neuropathologica
|
April 29, 2023
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model
Ruizhi Deng, Eva Medico-Salsench, Anita Nikoncuk, et al.
Brain : a Journal of Neurology
|
December 18, 2024
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder
Gabriel N Aughey, Elisa Cali, Reza Maroofian, et al.
Science Translational Medicine
|
September 17, 2010
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability
Abdul Noor, Annabel Whibley, Christian R Marshall, et al.
Nature Communications
|
March 14, 2024
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
Viorica Chelban, Henriette Aksnes, Reza Maroofian, et al.
Neurology
|
June 10, 2016
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features
Simona Balestrini, Mathieu Milh, Claudia Castiglioni, et al.
American Journal of Human Genetics
|
May 22, 2024
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
Alistair T Pagnamenta, Jing Yu, Susan Walker, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 10, 2024
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data
Valentina Cipriani, Letizia Vestito, Emma F Magavern, et al.
Page
of 27