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Brain : a Journal of Neurology|February 28, 2015
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasiaLaura A Jansen, Ghayda M Mirzaa, Gisele E Ishak, et al.Proceedings of the National Academy of Sciences of the United States of America|September 28, 2011
Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancersAkash Kumar, Thomas A White, Alexandra P MacKenzie, et al.Science (New York, N.Y.)|November 13, 2020
A human cell atlas of fetal chromatin accessibilitySilvia Domcke, Andrew J Hill, Riza M Daza, et al.Biorxiv : the Preprint Server for Biology|May 7, 2026
Designed Minibinders Rewire Receptor Signaling to Enable Functional Human Myogenic ReprogrammingRiya Keshri, Zachary Foreman, Phillip Barrett, et al.Nature Genetics|September 18, 2025
Genetic and epigenetic screens in primary human T cells link candidate causal autoimmune variants to T cell networksChing-Huang Ho, Maxwell A Dippel, Meghan S McQuade, et al.Blood|December 4, 2023
Transcriptional control of leukemogenesis by the chromatin reader SGF29Karina Barbosa, Anagha Deshpande, Marlenne Perales, et al.Human Mutation|August 13, 2015
Expanding the Molecular and Clinical Phenotype of SSR4-CDGBobby G Ng, Kimiyo Raymond, Martin Kircher, et al.Human Molecular Genetics|February 1, 2014
Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafishRegie Lyn P Santos-Cortez, Kwanghyuk Lee, Arnaud P Giese, et al.Science Advances|October 7, 2022
Oncogenic role of a developmentally regulated NTRK2 splice variantSiobhan S Pattwell, Sonali Arora, Nicholas Nuechterlein, et al.Nature Reviews. Methods Primers|May 22, 2023
High-content CRISPR screeningChristoph Bock, Paul Datlinger, Florence Chardon, et al.Pageof 43