Showing results (561-570 of 570) with videos related to
Sort By:
Pageof 57
You have reached the last page of results.This site can display upto 570 results.
Nature Communications|January 23, 2026
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disordersKevin Uguen, Tiffany Bergot, Marie-Pier Scott-Boyer, et al.Medrxiv : the Preprint Server for Health Sciences|February 26, 2024
Biallelic variation in the choline and ethanolamine transporter <i>FLVCR1</i> underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disordersDaniel G Calame, Jovi Huixin Wong, Puravi Panda, et al.Annals of Neurology|April 26, 2022
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic ParaplegiaDaniel G Calame, Isabella Herman, Reza Maroofian, et al.American Journal of Human Genetics|July 19, 2023
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth diseaseDaniel G Calame, Tianyu Guo, Chen Wang, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 22, 2024
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrumDaniel G Calame, Jovi Huixin Wong, Puravi Panda, et al.Nature Communications|August 22, 2024
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathyEmily Banks, Vincent Francis, 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 encephalopathyEmily 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 disorderStephanie Efthymiou, Cailyn P Leo, Chenghong Deng, et al.Nature Genetics|April 8, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changesRocio Rius, Alexander J M Blakes, Yuyang Chen, et al.Annals of Neurology|October 7, 2025
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset ParkinsonismHormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, et al.Pageof 57