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American Journal of Human Genetics
|
March 31, 2015
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect
Cas Simons, Laurie B Griffin, Guy Helman, et al.
Neurology
|
June 10, 2024
Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome
Francesco Gavazzi, Ylenia Vaia, Sarah Woidill, et al.
Human Mutation
|
June 12, 2008
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations
Lee-Jun C Wong, Robert K Naviaux, Nicola Brunetti-Pierri, et al.
HGG Advances
|
October 1, 2025
Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder
Brianna L DiSanza, Giulia S Porcari, Livia Sertori Finoti, et al.
Journal of Child Neurology
|
February 12, 2008
Genetic and clinical heterogeneity in eIF2B-related disorder
Jelena Maletkovic, Raphael Schiffmann, J Rafael Gorospe, et al.
Journal of Inherited Metabolic Disease
|
December 29, 2020
MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines
Eric J Mallack, Bela R Turk, Helena Yan, et al.
Molecular Genetics and Metabolism
|
March 24, 2024
Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach
Laura Ann Adang, Anjana Sevagamoorthy, Omar Sherbini, et al.
The New England Journal of Medicine
|
September 3, 2020
Janus Kinase Inhibition in the Aicardi-Goutières Syndrome
Adeline Vanderver, Laura Adang, Francesco Gavazzi, et al.
American Journal of Medical Genetics. Part A
|
December 31, 2013
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations
Adeline Vanderver, Davide Tonduti, Ilana Kahn, et al.
Pediatric Neurology
|
June 4, 2018
Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy
Amytice Mirchi, Félixe Pelletier, Luan T Tran, et al.
Page
of 22
Search research articles
Search
Showing results (151-160 of 217) with videos related to
Sort By:
Page
of 22
American Journal of Human Genetics
|
March 31, 2015
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect
Cas Simons, Laurie B Griffin, Guy Helman, et al.
Neurology
|
June 10, 2024
Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome
Francesco Gavazzi, Ylenia Vaia, Sarah Woidill, et al.
Human Mutation
|
June 12, 2008
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations
Lee-Jun C Wong, Robert K Naviaux, Nicola Brunetti-Pierri, et al.
HGG Advances
|
October 1, 2025
Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder
Brianna L DiSanza, Giulia S Porcari, Livia Sertori Finoti, et al.
Journal of Child Neurology
|
February 12, 2008
Genetic and clinical heterogeneity in eIF2B-related disorder
Jelena Maletkovic, Raphael Schiffmann, J Rafael Gorospe, et al.
Journal of Inherited Metabolic Disease
|
December 29, 2020
MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines
Eric J Mallack, Bela R Turk, Helena Yan, et al.
Molecular Genetics and Metabolism
|
March 24, 2024
Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach
Laura Ann Adang, Anjana Sevagamoorthy, Omar Sherbini, et al.
The New England Journal of Medicine
|
September 3, 2020
Janus Kinase Inhibition in the Aicardi-Goutières Syndrome
Adeline Vanderver, Laura Adang, Francesco Gavazzi, et al.
American Journal of Medical Genetics. Part A
|
December 31, 2013
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations
Adeline Vanderver, Davide Tonduti, Ilana Kahn, et al.
Pediatric Neurology
|
June 4, 2018
Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy
Amytice Mirchi, Félixe Pelletier, Luan T Tran, et al.
Page
of 22