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Cold Spring Harbor Molecular Case Studies
|
December 15, 2019
Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles
J Nicholas Cochran, Emily C McKinley, Meagan Cochran, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
May 22, 2013
Therapeutic response in feline sandhoff disease despite immunity to intracranial gene therapy
Allison M Bradbury, J Nicholas Cochran, Victoria J McCurdy, et al.
Alzheimer'S & Dementia (Amsterdam, Netherlands)
|
October 2, 2023
Early-onset Alzheimer's disease explained by polygenic risk of late-onset disease?
William G Mantyh, J Nicholas Cochran, Jared W Taylor, et al.
American Journal of Human Genetics
|
December 12, 2018
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies
Gemma L Carvill, Krysta L Engel, Aishwarya Ramamurthy, et al.
Genome Medicine
|
May 31, 2017
Genomic diagnosis for children with intellectual disability and/or developmental delay
Kevin M Bowling, Michelle L Thompson, Michelle D Amaral, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|
December 26, 2025
Clinical Manifestations
Nahuel Magrath Guimet, Florentina Morello Garcia, Loana De Los Santos, et al.
Acta Neuropathologica
|
November 2, 2018
Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia
Ethan G Geier, Mathieu Bourdenx, Nadia J Storm, et al.
Genome Medicine
|
March 9, 2022
A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects
Juliana Acosta-Uribe, David Aguillón, J Nicholas Cochran, et al.
Human Genetics
|
May 10, 2018
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder
Lot Snijders Blok, Susan M Hiatt, Kevin M Bowling, et al.
Frontiers in Neurology
|
March 29, 2021
The Multi-Partner Consortium to Expand Dementia Research in Latin America (ReDLat): Driving Multicentric Research and Implementation Science
Agustin Ibanez, Jennifer S Yokoyama, Katherine L Possin, et al.
Page
of 5
Search research articles
Search
Showing results (31-40 of 47) with videos related to
Sort By:
Page
of 5
Cold Spring Harbor Molecular Case Studies
|
December 15, 2019
Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles
J Nicholas Cochran, Emily C McKinley, Meagan Cochran, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
May 22, 2013
Therapeutic response in feline sandhoff disease despite immunity to intracranial gene therapy
Allison M Bradbury, J Nicholas Cochran, Victoria J McCurdy, et al.
Alzheimer'S & Dementia (Amsterdam, Netherlands)
|
October 2, 2023
Early-onset Alzheimer's disease explained by polygenic risk of late-onset disease?
William G Mantyh, J Nicholas Cochran, Jared W Taylor, et al.
American Journal of Human Genetics
|
December 12, 2018
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies
Gemma L Carvill, Krysta L Engel, Aishwarya Ramamurthy, et al.
Genome Medicine
|
May 31, 2017
Genomic diagnosis for children with intellectual disability and/or developmental delay
Kevin M Bowling, Michelle L Thompson, Michelle D Amaral, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|
December 26, 2025
Clinical Manifestations
Nahuel Magrath Guimet, Florentina Morello Garcia, Loana De Los Santos, et al.
Acta Neuropathologica
|
November 2, 2018
Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia
Ethan G Geier, Mathieu Bourdenx, Nadia J Storm, et al.
Genome Medicine
|
March 9, 2022
A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects
Juliana Acosta-Uribe, David Aguillón, J Nicholas Cochran, et al.
Human Genetics
|
May 10, 2018
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder
Lot Snijders Blok, Susan M Hiatt, Kevin M Bowling, et al.
Frontiers in Neurology
|
March 29, 2021
The Multi-Partner Consortium to Expand Dementia Research in Latin America (ReDLat): Driving Multicentric Research and Implementation Science
Agustin Ibanez, Jennifer S Yokoyama, Katherine L Possin, et al.
Page
of 5