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Brain : a Journal of Neurology
|
March 22, 2025
ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration
Jordi Del-Pozo-Rodriguez, Peggy Tilly, Romain Lecat, et al.
Medrxiv : the Preprint Server for Health Sciences
|
August 14, 2023
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project
Sarah L Stenton, Melanie O'Leary, Gabrielle Lemire, et al.
Human Genomics
|
April 29, 2024
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project
Sarah L Stenton, Melanie C O'Leary, Gabrielle Lemire, et al.
American Journal of Human Genetics
|
May 14, 2019
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
Anne H O'Donnell-Luria, Lynn S Pais, Víctor Faundes, et al.
Nature Communications
|
May 17, 2017
Whole genome analysis of a schistosomiasis-transmitting freshwater snail
Coen M Adema, LaDeana W Hillier, Catherine S Jones, et al.
Nature Communications
|
August 24, 2017
Corrigendum: Whole genome analysis of a schistosomiasis-transmitting freshwater snail
Coen M Adema, LaDeana W Hillier, Catherine S Jones, et al.
Translational Medicine @ Unisa
|
July 31, 2019
The Reference Site Collaborative Network of the European Innovation Partnership on Active and Healthy Ageing
J Bousquet, M Illario, J Farrell, et al.
Medrxiv : the Preprint Server for Health Sciences
|
September 15, 2025
Systematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathies
Elsa Leitão, Amandine Santini, Benjamin Cogne, et al.
Nature Genetics
|
March 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
Elsa Leitão, Amandine Santini, Benjamin Cogne, et al.
The Journal of Nutrition, Health & Aging
|
December 22, 2016
Building Bridges for Innovation in Ageing: Synergies between Action Groups of the EIP on AHA
J Bousquet, M Bewick, A Cano, et al.
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Search research articles
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Showing results (101-110 of 110) with videos related to
Sort By:
Page
of 11
You have reached the last page of results.
This site can display upto 110 results.
Brain : a Journal of Neurology
|
March 22, 2025
ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration
Jordi Del-Pozo-Rodriguez, Peggy Tilly, Romain Lecat, et al.
Medrxiv : the Preprint Server for Health Sciences
|
August 14, 2023
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project
Sarah L Stenton, Melanie O'Leary, Gabrielle Lemire, et al.
Human Genomics
|
April 29, 2024
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project
Sarah L Stenton, Melanie C O'Leary, Gabrielle Lemire, et al.
American Journal of Human Genetics
|
May 14, 2019
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
Anne H O'Donnell-Luria, Lynn S Pais, Víctor Faundes, et al.
Nature Communications
|
May 17, 2017
Whole genome analysis of a schistosomiasis-transmitting freshwater snail
Coen M Adema, LaDeana W Hillier, Catherine S Jones, et al.
Nature Communications
|
August 24, 2017
Corrigendum: Whole genome analysis of a schistosomiasis-transmitting freshwater snail
Coen M Adema, LaDeana W Hillier, Catherine S Jones, et al.
Translational Medicine @ Unisa
|
July 31, 2019
The Reference Site Collaborative Network of the European Innovation Partnership on Active and Healthy Ageing
J Bousquet, M Illario, J Farrell, et al.
Medrxiv : the Preprint Server for Health Sciences
|
September 15, 2025
Systematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathies
Elsa Leitão, Amandine Santini, Benjamin Cogne, et al.
Nature Genetics
|
March 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
Elsa Leitão, Amandine Santini, Benjamin Cogne, et al.
The Journal of Nutrition, Health & Aging
|
December 22, 2016
Building Bridges for Innovation in Ageing: Synergies between Action Groups of the EIP on AHA
J Bousquet, M Bewick, A Cano, et al.
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of 11