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NAR Genomics and Bioinformatics|December 10, 2021
Supervised learning with word embeddings derived from PubMed captures latent knowledge about protein kinases and cancerVida Ravanmehr, Hannah Blau, Luca Cappelletti, et al.Journal of Alzheimer'S Disease : JAD|October 7, 2017
Memory Correlates of Alzheimer's Disease Cerebrospinal Fluid Markers: A Longitudinal Cohort StudyBabette L R Reijs, Inez H G B Ramakers, Sebastian Köhler, et al.Brain, Behavior, and Immunity|June 29, 2021
Low-grade inflammation and endothelial dysfunction predict four-year risk and course of depressive symptoms: The Maastricht studyEveline P C J Janssen, Sebastian Köhler, Anouk F J Geraets, et al.Bioinformatics Advances|July 7, 2025
Leveraging generative AI to assist biocuration of medical actions for rare diseaseEnock Niyonkuru, J Harry Caufield, Leigh C Carmody, et al.Scientific Data|February 8, 2025
An ontology-based rare disease common data model harmonising international registries, FHIR, and PhenopacketsAdam S L Graefe, Miriam R Hübner, Filip Rehburg, et al.Nature Communications|June 12, 2021
E2F6 initiates stable epigenetic silencing of germline genes during embryonic developmentThomas Dahlet, Matthias Truss, Ute Frede, et al.Medrxiv : the Preprint Server for Health Sciences|September 4, 2024
Leveraging Generative AI to Accelerate Biocuration of Medical Actions for Rare DiseaseEnock Niyonkuru, J Harry Caufield, Leigh C Carmody, et al.Translational Psychiatry|June 8, 2024
Association of post-COVID phenotypic manifestations with new-onset psychiatric diseaseBen Coleman, Elena Casiraghi, Tiffany J Callahan, et al.American Journal of Human Genetics|July 11, 2006
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunitKatrin Hoffmann, Juliane S Muller, Sigmar Stricker, et al.Plos Genetics|November 7, 2014
Pseudoautosomal region 1 length polymorphism in the human populationMartin A Mensah, Matthew S Hestand, Maarten H D Larmuseau, et al.Pageof 58