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Neurology
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August 28, 2020
Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy
Wei Shern Lee, Sarah E M Stephenson, Kate Pope, et al.
Brain : a Journal of Neurology
|
November 8, 2023
The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia
Emma Macdonald-Laurs, Aaron E L Warren, Peter Francis, et al.
Annals of Clinical and Translational Neurology
|
July 30, 2019
Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA
Wei Shern Lee, Sarah E M Stephenson, Katherine B Howell, et al.
Brain Communications
|
February 10, 2025
The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations
Matthew Coleman, Min Wang, Penny Snell, et al.
Brain Communications
|
March 19, 2021
Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain
Zimeng Ye, Zac Chatterton, Jahnvi Pflueger, et al.
American Journal of Human Genetics
|
April 16, 2019
Pathogenic Variants in GPC4 Cause Keipert Syndrome
David J Amor, Sarah E M Stephenson, Mirna Mustapha, 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
Search research articles
Search
Showing results (11-20 of 17) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 17 results.
Neurology
|
August 28, 2020
Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy
Wei Shern Lee, Sarah E M Stephenson, Kate Pope, et al.
Brain : a Journal of Neurology
|
November 8, 2023
The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia
Emma Macdonald-Laurs, Aaron E L Warren, Peter Francis, et al.
Annals of Clinical and Translational Neurology
|
July 30, 2019
Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA
Wei Shern Lee, Sarah E M Stephenson, Katherine B Howell, et al.
Brain Communications
|
February 10, 2025
The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations
Matthew Coleman, Min Wang, Penny Snell, et al.
Brain Communications
|
March 19, 2021
Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain
Zimeng Ye, Zac Chatterton, Jahnvi Pflueger, et al.
American Journal of Human Genetics
|
April 16, 2019
Pathogenic Variants in GPC4 Cause Keipert Syndrome
David J Amor, Sarah E M Stephenson, Mirna Mustapha, 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.
Page
of 2