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Human Molecular Genetics|June 9, 2026
Limited penetrance of dominantly inherited AIRE variants in a population-based cohortSuraj N Ramchand, Jacques Murray Leech, Luke N Sharp, et al.Scientific Reports|February 18, 2016
Pitfalls of haplotype phasing from amplicon-based long-read sequencingThomas W Laver, Richard C Caswell, Karen A Moore, et al.ACS Omega|April 14, 2025
Optimization of Capillary Vibrating Sharp-Edge Spray Ionization for Native Mass Spectrometry of Triplex DNASultan Mahmud, Vikum K Dewasurendra, Chandrima Banerjee, et al.The Journal of Physical Chemistry. B|January 29, 2025
Accessing Different Protein Conformer Ensembles with Tunable Capillary Vibrating Sharp-Edge Spray IonizationDaud Sharif, Vikum K Dewasurendra, Mst Nigar Sultana, et al.Biorxiv : the Preprint Server for Biology|February 3, 2025
Autism-Associated Genes and Neighboring lncRNAs Converge on Key Gene Regulatory NetworksRebecca E Andersen, Maya Talukdar, Tyler Sakamoto, et al.Science (New York, N.Y.)|March 19, 2021
Landmarks of human embryonic development inscribed in somatic mutationsSara Bizzotto, Yanmei Dou, Javier Ganz, et al.Biorxiv : the Preprint Server for Biology|November 14, 2023
BRN1/2 Function in Neocortical Size Determination and MicrocephalySoraia Barão, Yijun Xu, José P Llongueras, et al.Nature Neuroscience|January 12, 2021
Large mosaic copy number variations confer autism riskMaxwell A Sherman, Rachel E Rodin, Giulio Genovese, et al.Nature Communications|October 7, 2022
Prevalence and mechanisms of somatic deletions in single human neurons during normal aging and in DNA repair disordersJunho Kim, August Yue Huang, Shelby L Johnson, et al.American Journal of Medical Genetics. Part A|October 16, 2010
Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohortCecilia Mellado, Annapurna Poduri, Danielle Gleason, et al.Pageof 41