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Nature Communications|January 10, 2026
Single-cell multiplex approaches deeply map ON-target CRISPR-genotoxicity and reveal its mitigation by palbociclib and long-term engraftmentJulian Boutin, Sabrina Fayet, Victor Marin, et al.Journal of Nuclear Cardiology : Official Publication of the American Society of Nuclear Cardiology|August 15, 2019
Diastolic dyssynchrony assessment by gated myocardial perfusion-SPECT in subjects who underwent cardiac resynchronization therapyErick Alexanderson-Rosas, Nilda Espinola-Zavaleta, Ernest V Garcia, et al.Orphanet Journal of Rare Diseases|November 22, 2025
Characterization of a novel SERPINA1 variant carrying two missense mutations: molecular mechanisms and functional impactCeline Leon, Marie-Françoise Odou, Bertrand Roquelaure, et al.American Journal of Human Genetics|January 17, 2025
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndromeKarim Karimi, Yael Lichtenstein, Jack Reilly, et al.Brain : a Journal of Neurology|June 7, 2024
The expanding clinical and genetic spectrum of DYNC1H1-related disordersBirk Möller, Lena-Luise Becker, Afshin Saffari, et al.Nature Genetics|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruptionCaroline Nava, Benjamin Cogne, Amandine Santini, et al.Pageof 3