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Brain : a Journal of Neurology
|
June 23, 2022
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome
Matthew N Bainbridge, Aloran Mazumder, Daisuke Ogasawara, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 16, 2025
Domain specific phenotypic expansion associated with variants in <i>MACF1</i>
Nikhita Gogate, Angad Jolly, Jill A Rosenfeld, et al.
Nature Communications
|
February 14, 2019
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy
Jennifer Friedman, Desiree E Smith, Mahmoud Y Issa, et al.
Nature Communications
|
September 21, 2021
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Oya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, et al.
Journal of Inherited Metabolic Disease
|
January 14, 2021
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients
Oya Kuseyri Hübschmann, Alexander Mohr, Jennifer Friedman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 14, 2022
DNA methylation episignature in Gabriele-de Vries syndrome
Florian Cherik, Jack Reilly, Jennifer Kerkhof, et al.
American Journal of Human Genetics
|
March 26, 2025
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments
David Cheerie, Margaret M Meserve, Danique Beijer, et al.
Journal of Clinical and Translational Science
|
October 30, 2023
An approach for collaborative development of a federated biomedical knowledge graph-based question-answering system: Question-of-the-Month challenges
Karamarie Fecho, Chris Bizon, Tursynay Issabekova, et al.
Journal of Inherited Metabolic Disease
|
July 10, 2021
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry
Mareike Keller, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, et al.
Plos One
|
September 1, 2015
Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry
Louis Viollet, Gustavo Glusman, Kelley J Murphy, et al.
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Search research articles
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Showing results (61-70 of 90) with videos related to
Sort By:
Page
of 9
Brain : a Journal of Neurology
|
June 23, 2022
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome
Matthew N Bainbridge, Aloran Mazumder, Daisuke Ogasawara, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 16, 2025
Domain specific phenotypic expansion associated with variants in <i>MACF1</i>
Nikhita Gogate, Angad Jolly, Jill A Rosenfeld, et al.
Nature Communications
|
February 14, 2019
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy
Jennifer Friedman, Desiree E Smith, Mahmoud Y Issa, et al.
Nature Communications
|
September 21, 2021
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Oya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, et al.
Journal of Inherited Metabolic Disease
|
January 14, 2021
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients
Oya Kuseyri Hübschmann, Alexander Mohr, Jennifer Friedman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 14, 2022
DNA methylation episignature in Gabriele-de Vries syndrome
Florian Cherik, Jack Reilly, Jennifer Kerkhof, et al.
American Journal of Human Genetics
|
March 26, 2025
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments
David Cheerie, Margaret M Meserve, Danique Beijer, et al.
Journal of Clinical and Translational Science
|
October 30, 2023
An approach for collaborative development of a federated biomedical knowledge graph-based question-answering system: Question-of-the-Month challenges
Karamarie Fecho, Chris Bizon, Tursynay Issabekova, et al.
Journal of Inherited Metabolic Disease
|
July 10, 2021
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry
Mareike Keller, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, et al.
Plos One
|
September 1, 2015
Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry
Louis Viollet, Gustavo Glusman, Kelley J Murphy, et al.
Page
of 9