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Frontiers in Cell and Developmental Biology|December 26, 2022
The different clinical facets of SYN1-related neurodevelopmental disordersIlaria Parenti, Elsa Leitão, Alma Kuechler, et al.Brain : a Journal of Neurology|February 22, 2022
Assessing the landscape of STXBP1-related disorders in 534 individualsJulie Xian, Shridhar Parthasarathy, Sarah M Ruggiero, et al.Nucleic Acids Research|December 2, 2020
The Human Phenotype Ontology in 2021Sebastian Köhler, Michael Gargano, Nicolas Matentzoglu, et al.Medrxiv : the Preprint Server for Health Sciences|January 27, 2025
The natural history of CDKL5 deficiency disorder into adulthoodAngel Aledo-Serrano, David Lewis-Smith, Helen Leonard, et al.Nucleic Acids Research|November 12, 2023
The Human Phenotype Ontology in 2024: phenotypes around the worldMichael A Gargano, Nicolas Matentzoglu, Ben Coleman, et al.Medrxiv : the Preprint Server for Health Sciences|March 3, 2023
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypesSiwei Chen, Bassel W Abou-Khalil, Zaid Afawi, et al.Pageof 10