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Pediatric Neurology
|
November 11, 2023
Are Germline Mosaic TSC1/2 Variants Present in Controls? Implications for Diagnosis
Zimeng Ye, Sufang Lin, Xia Zhao, et al.
Neurology. Genetics
|
May 5, 2018
Somatic <i>GNAQ</i> mutation in the <i>forme fruste</i> of Sturge-Weber syndrome
Michael S Hildebrand, A Simon Harvey, Stephen Malone, 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.
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.
Human Mutation
|
August 28, 2022
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting
Zimeng Ye, Sufang Lin, Xia Zhao, et al.
Orphanet Journal of Rare Diseases
|
August 2, 2024
Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless
Mathew Wallis, Simon D Bodek, Jacob Munro, et al.
JAMA Neurology
|
May 1, 2023
Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy
Sattar Khoshkhoo, Yilan Wang, Yasmine Chahine, 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 4
Search research articles
Search
Showing results (31-40 of 38) with videos related to
Sort By:
Page
of 4
You have reached the last page of results.
This site can display upto 38 results.
Pediatric Neurology
|
November 11, 2023
Are Germline Mosaic TSC1/2 Variants Present in Controls? Implications for Diagnosis
Zimeng Ye, Sufang Lin, Xia Zhao, et al.
Neurology. Genetics
|
May 5, 2018
Somatic <i>GNAQ</i> mutation in the <i>forme fruste</i> of Sturge-Weber syndrome
Michael S Hildebrand, A Simon Harvey, Stephen Malone, 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.
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.
Human Mutation
|
August 28, 2022
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting
Zimeng Ye, Sufang Lin, Xia Zhao, et al.
Orphanet Journal of Rare Diseases
|
August 2, 2024
Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless
Mathew Wallis, Simon D Bodek, Jacob Munro, et al.
JAMA Neurology
|
May 1, 2023
Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy
Sattar Khoshkhoo, Yilan Wang, Yasmine Chahine, 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 4