Search research articles
Contact Us
Filters
Showing results (1-10 of 16) with videos related to
Page
of 2
Sort By:
Current Opinion in Genetics & Development
|
May 19, 2026
Somatic mosaicism in hypothalamic hamartoma
Timothy E Green, Samuel F Berkovic, Michael S Hildebrand
Brain : a Journal of Neurology
|
April 5, 2022
UNC13B and focal epilepsy
Timothy E Green, Ingrid E Scheffer, Samuel F Berkovic, et al.
European Journal of Human Genetics : EJHG
|
January 16, 2022
Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome
Timothy E Green, Mareike Schimmel, Susanna Schubert, et al.
Neurobiology of Disease
|
August 14, 2023
Brain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma
Timothy E Green, Atsushi Fujita, Navid Ghaderi, et al.
Epilepsy Research
|
July 12, 2019
Somatic mutation: The hidden genetics of brain malformations and focal epilepsies
Zimeng Ye, Lara McQuillan, Annapurna Poduri, et al.
Cold Spring Harbor Molecular Case Studies
|
October 15, 2021
Identification of a recurrent mosaic <i>KRAS</i> variant in brain tissue from an individual with nevus sebaceous syndrome
Timothy E Green, Duncan MacGregor, Susan M Carden, et al.
Epilepsia Open
|
October 30, 2021
Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype
Guillem de Valles-Ibáñez, Michael S Hildebrand, Melanie Bahlo, et al.
Epilepsia Open
|
January 14, 2025
PAK3 pathogenic variant associated with sleep-related hypermotor epilepsy in a family with parental mosaicism
Antonio Gambardella, Yu-Chi Liu, Mark F Bennett, et al.
Genetics in Medicine Open
|
December 13, 2024
Improving genetic diagnostic yield in a large cohort of children with rare vascular anomalies or <i>PIK3CA</i>-related overgrowth spectrum
Timothy E Green, Denisse Garza, Natasha J Brown, et al.
Genetics in Medicine Open
|
December 13, 2024
Mosaic variants detectable in blood extend the clinicogenetic spectrum of <i>GLI3</i>-related hypothalamic hamartoma
Timothy E Green, Mark F Bennett, Ilka Immisch, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 16) with videos related to
Sort By:
Page
of 2
Current Opinion in Genetics & Development
|
May 19, 2026
Somatic mosaicism in hypothalamic hamartoma
Timothy E Green, Samuel F Berkovic, Michael S Hildebrand
Brain : a Journal of Neurology
|
April 5, 2022
UNC13B and focal epilepsy
Timothy E Green, Ingrid E Scheffer, Samuel F Berkovic, et al.
European Journal of Human Genetics : EJHG
|
January 16, 2022
Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome
Timothy E Green, Mareike Schimmel, Susanna Schubert, et al.
Neurobiology of Disease
|
August 14, 2023
Brain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma
Timothy E Green, Atsushi Fujita, Navid Ghaderi, et al.
Epilepsy Research
|
July 12, 2019
Somatic mutation: The hidden genetics of brain malformations and focal epilepsies
Zimeng Ye, Lara McQuillan, Annapurna Poduri, et al.
Cold Spring Harbor Molecular Case Studies
|
October 15, 2021
Identification of a recurrent mosaic <i>KRAS</i> variant in brain tissue from an individual with nevus sebaceous syndrome
Timothy E Green, Duncan MacGregor, Susan M Carden, et al.
Epilepsia Open
|
October 30, 2021
Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype
Guillem de Valles-Ibáñez, Michael S Hildebrand, Melanie Bahlo, et al.
Epilepsia Open
|
January 14, 2025
PAK3 pathogenic variant associated with sleep-related hypermotor epilepsy in a family with parental mosaicism
Antonio Gambardella, Yu-Chi Liu, Mark F Bennett, et al.
Genetics in Medicine Open
|
December 13, 2024
Improving genetic diagnostic yield in a large cohort of children with rare vascular anomalies or <i>PIK3CA</i>-related overgrowth spectrum
Timothy E Green, Denisse Garza, Natasha J Brown, et al.
Genetics in Medicine Open
|
December 13, 2024
Mosaic variants detectable in blood extend the clinicogenetic spectrum of <i>GLI3</i>-related hypothalamic hamartoma
Timothy E Green, Mark F Bennett, Ilka Immisch, et al.
Page
of 2