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Deepa S Rajan

Showing results (11-20 of 22) with videos related to

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Annals of Neurology|February 7, 2021
Adults with Cerebral Palsy Require Ongoing Neurologic Care: A Systematic ReviewSarah E Smith, Mary Gannotti, Edward A Hurvitz, et al.
Life Science Alliance|April 8, 2022
Functional and structural deficiencies of Gemin5 variants associated with neurological disordersRosario Francisco-Velilla, Azman Embarc-Buh, Francisco Del Caño-Ochoa, et al.
Acta Neuropathologica|June 27, 2023
SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegenerationTyler R Fortuna, Sukhleen Kour, Anuradha Venkatakrishnan Chimata, et al.
The New England Journal of Medicine|December 30, 2025
An Intravenous Brain-Penetrant Enzyme Therapy for Mucopolysaccharidosis IIJoseph Muenzer, Barbara K Burton, Paul Harmatz, et al.
European Journal of Human Genetics : EJHG|February 5, 2024
Mutations of GEMIN5 are associated with coenzyme Q<sub>10</sub> deficiency: long-term follow-up after treatmentMarivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, et al.
Frontiers in Cell and Developmental Biology|March 17, 2022
Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in <i>GEMIN5</i>Deepa S Rajan, Sukhleen Kour, Tyler R Fortuna, et al.
Annals of Neurology|June 10, 2019
Autism and developmental disability caused by KCNQ3 gain-of-function variantsTristan T Sands, Francesco Miceli, Gaetan Lesca, et al.
Neurology|May 11, 2016
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathyJohannes R Lemke, Kirsten Geider, Katherine L Helbig, et al.
American Journal of Human Genetics|December 30, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorderEric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.
Medrxiv : the Preprint Server for Health Sciences|April 16, 2025
De novo variants in <i>KDM2A</i> cause a syndromic neurodevelopmental disorderEric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.
Pageof 3

Showing results (11-20 of 22) with videos related to

Sort By:
Pageof 3
Annals of Neurology|February 7, 2021
Adults with Cerebral Palsy Require Ongoing Neurologic Care: A Systematic ReviewSarah E Smith, Mary Gannotti, Edward A Hurvitz, et al.
Life Science Alliance|April 8, 2022
Functional and structural deficiencies of Gemin5 variants associated with neurological disordersRosario Francisco-Velilla, Azman Embarc-Buh, Francisco Del Caño-Ochoa, et al.
Acta Neuropathologica|June 27, 2023
SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegenerationTyler R Fortuna, Sukhleen Kour, Anuradha Venkatakrishnan Chimata, et al.
The New England Journal of Medicine|December 30, 2025
An Intravenous Brain-Penetrant Enzyme Therapy for Mucopolysaccharidosis IIJoseph Muenzer, Barbara K Burton, Paul Harmatz, et al.
European Journal of Human Genetics : EJHG|February 5, 2024
Mutations of GEMIN5 are associated with coenzyme Q<sub>10</sub> deficiency: long-term follow-up after treatmentMarivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, et al.
Frontiers in Cell and Developmental Biology|March 17, 2022
Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in <i>GEMIN5</i>Deepa S Rajan, Sukhleen Kour, Tyler R Fortuna, et al.
Annals of Neurology|June 10, 2019
Autism and developmental disability caused by KCNQ3 gain-of-function variantsTristan T Sands, Francesco Miceli, Gaetan Lesca, et al.
Neurology|May 11, 2016
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathyJohannes R Lemke, Kirsten Geider, Katherine L Helbig, et al.
American Journal of Human Genetics|December 30, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorderEric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.
Medrxiv : the Preprint Server for Health Sciences|April 16, 2025
De novo variants in <i>KDM2A</i> cause a syndromic neurodevelopmental disorderEric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.
Pageof 3