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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 2, 2026
ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel
Lacey Smith, Emily Bonkowski, Anna Prentice, et al.
American Journal of Human Genetics
|
November 22, 2022
A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism
Shridhar Parthasarathy, Sarah McKeown Ruggiero, Antoinette Gelot, et al.
Brain : a Journal of Neurology
|
February 22, 2022
Assessing the landscape of STXBP1-related disorders in 534 individuals
Julie Xian, Shridhar Parthasarathy, Sarah M Ruggiero, et al.
Cell
|
June 15, 2026
The critical role of the endogenous immune compartment after CAR T cell therapy in recurrent GBM
Nelson F Freeburg, Daniel Chafamo, Gayathri Konanur Gopikrishna, et al.
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of 3
Search research articles
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Showing results (21-30 of 24) with videos related to
Sort By:
Page
of 3
You have reached the last page of results.
This site can display upto 24 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 2, 2026
ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel
Lacey Smith, Emily Bonkowski, Anna Prentice, et al.
American Journal of Human Genetics
|
November 22, 2022
A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism
Shridhar Parthasarathy, Sarah McKeown Ruggiero, Antoinette Gelot, et al.
Brain : a Journal of Neurology
|
February 22, 2022
Assessing the landscape of STXBP1-related disorders in 534 individuals
Julie Xian, Shridhar Parthasarathy, Sarah M Ruggiero, et al.
Cell
|
June 15, 2026
The critical role of the endogenous immune compartment after CAR T cell therapy in recurrent GBM
Nelson F Freeburg, Daniel Chafamo, Gayathri Konanur Gopikrishna, et al.
Page
of 3