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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 16, 2023
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
Andrea Accogli, Sheng-Jia Lin, Mariasavina Severino, et al.
Nature Communications
|
August 22, 2024
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
Emily Banks, Vincent Francis, Sheng-Jia Lin, et al.
Brain : a Journal of Neurology
|
November 11, 2023
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 14, 2024
Loss of symmetric cell division of apical neural progenitors drives <i>DENND5A</i>-related developmental and epileptic encephalopathy
Emily Banks, Vincent Francis, Sheng-Jia Lin, et al.
American Journal of Human Genetics
|
April 17, 2025
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder
Stephanie Efthymiou, Cailyn P Leo, Chenghong Deng, et al.
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of 4
Search research articles
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Showing results (31-40 of 35) with videos related to
Sort By:
Page
of 4
You have reached the last page of results.
This site can display upto 35 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 16, 2023
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
Andrea Accogli, Sheng-Jia Lin, Mariasavina Severino, et al.
Nature Communications
|
August 22, 2024
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
Emily Banks, Vincent Francis, Sheng-Jia Lin, et al.
Brain : a Journal of Neurology
|
November 11, 2023
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 14, 2024
Loss of symmetric cell division of apical neural progenitors drives <i>DENND5A</i>-related developmental and epileptic encephalopathy
Emily Banks, Vincent Francis, Sheng-Jia Lin, et al.
American Journal of Human Genetics
|
April 17, 2025
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder
Stephanie Efthymiou, Cailyn P Leo, Chenghong Deng, et al.
Page
of 4