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Human Molecular Genetics
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May 22, 2025
Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variants
Neblina Sikta, Samuel Gooley, Timothy E Green, et al.
Epilepsia
|
February 13, 2023
WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk
Karen 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 deficiency
Natalie 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 contributions
Timothy 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 programs
Sara 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 dysplasia
Breana Galea, Joshua Reid, Samuel Gooley, et al.
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Search research articles
Search
Showing results (11-20 of 16) with videos related to
Sort By:
Page
of 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 variants
Neblina Sikta, Samuel Gooley, Timothy E Green, et al.
Epilepsia
|
February 13, 2023
WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk
Karen 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 deficiency
Natalie 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 contributions
Timothy 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 programs
Sara 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 dysplasia
Breana Galea, Joshua Reid, Samuel Gooley, et al.
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of 2