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Timothy E Green

Showing results (11-20 of 16) with videos related to

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Human Molecular Genetics|May 22, 2025
Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variantsNeblina Sikta, Samuel Gooley, Timothy E Green, et al.
Epilepsia|February 13, 2023
WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality riskKaren L Oliver, Marina Trivisano, Simone A Mandelstam, et al.
American Journal of Human Genetics|March 31, 2026
Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiencyNatalie B Tan, Matthias Gautschi, Michael Raum, et al.
Human Molecular Genetics|February 9, 2022
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributionsTimothy E Green, Joshua E Motelow, Mark F Bennett, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 17, 2025
Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programsSara Bizzotto, Maya Talukdar, Edward A Stronge, et al.
Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasiaBreana Galea, Joshua Reid, Samuel Gooley, et al.
Pageof 2

Showing results (11-20 of 16) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 16 results.
Human Molecular Genetics|May 22, 2025
Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variantsNeblina Sikta, Samuel Gooley, Timothy E Green, et al.
Epilepsia|February 13, 2023
WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality riskKaren L Oliver, Marina Trivisano, Simone A Mandelstam, et al.
American Journal of Human Genetics|March 31, 2026
Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiencyNatalie B Tan, Matthias Gautschi, Michael Raum, et al.
Human Molecular Genetics|February 9, 2022
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributionsTimothy E Green, Joshua E Motelow, Mark F Bennett, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 17, 2025
Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programsSara Bizzotto, Maya Talukdar, Edward A Stronge, et al.
Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasiaBreana Galea, Joshua Reid, Samuel Gooley, et al.
Pageof 2