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Neurology
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May 26, 2021
Association of <i>SLC32A1</i> Missense Variants With Genetic Epilepsy With Febrile Seizures Plus
Sarah E Heron, Brigid M Regan, Rebekah V Harris, et al.
Annals of Neurology
|
November 19, 2025
Pathogenic Variants in RNU2-2, a Non-coding Spliceosomal RNA, Cause a Distinctive Developmental and Epileptic Encephalopathy
Annie T G Chiu, Mark F Bennett, Harshini Thiyagarajah, 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.
Nature Communications
|
August 9, 2022
Connecting omics signatures and revealing biological mechanisms with iLINCS
Marcin Pilarczyk, Mehdi Fazel-Najafabadi, Michal Kouril, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 7, 2026
Genome sequencing boosts diagnostic yield for the developmental and epileptic encephalopathies
Jacob E Munro, Harshini Thiyagarajah, Mark F Bennett, et al.
American Journal of Human Genetics
|
April 23, 2026
Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databases
Ben Weisburd, Egor Dolzhenko, Mark F Bennett, et al.
Genome Medicine
|
August 10, 2022
REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats
Egor Dolzhenko, Ben Weisburd, Kristina Ibañez, et al.
Molecular Psychiatry
|
September 18, 2022
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development
Antony Kaspi, Michael S Hildebrand, Victoria E Jackson, et al.
Molecular Psychiatry
|
January 19, 2023
Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development
Antony Kaspi, Michael S Hildebrand, Victoria E Jackson, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
July 29, 2022
Clinical impact of whole-genome sequencing in patients with early-onset dementia
Aamira J Huq, Bryony Thompson, Mark F Bennett, et al.
Page
of 6
Search research articles
Search
Showing results (31-40 of 56) with videos related to
Sort By:
Page
of 6
Neurology
|
May 26, 2021
Association of <i>SLC32A1</i> Missense Variants With Genetic Epilepsy With Febrile Seizures Plus
Sarah E Heron, Brigid M Regan, Rebekah V Harris, et al.
Annals of Neurology
|
November 19, 2025
Pathogenic Variants in RNU2-2, a Non-coding Spliceosomal RNA, Cause a Distinctive Developmental and Epileptic Encephalopathy
Annie T G Chiu, Mark F Bennett, Harshini Thiyagarajah, 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.
Nature Communications
|
August 9, 2022
Connecting omics signatures and revealing biological mechanisms with iLINCS
Marcin Pilarczyk, Mehdi Fazel-Najafabadi, Michal Kouril, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 7, 2026
Genome sequencing boosts diagnostic yield for the developmental and epileptic encephalopathies
Jacob E Munro, Harshini Thiyagarajah, Mark F Bennett, et al.
American Journal of Human Genetics
|
April 23, 2026
Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databases
Ben Weisburd, Egor Dolzhenko, Mark F Bennett, et al.
Genome Medicine
|
August 10, 2022
REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats
Egor Dolzhenko, Ben Weisburd, Kristina Ibañez, et al.
Molecular Psychiatry
|
September 18, 2022
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development
Antony Kaspi, Michael S Hildebrand, Victoria E Jackson, et al.
Molecular Psychiatry
|
January 19, 2023
Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development
Antony Kaspi, Michael S Hildebrand, Victoria E Jackson, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
July 29, 2022
Clinical impact of whole-genome sequencing in patients with early-onset dementia
Aamira J Huq, Bryony Thompson, Mark F Bennett, et al.
Page
of 6