Showing results (111-120 of 121) with videos related to

Sort By:
Pageof 13
Plos Genetics|September 29, 2025
Identifying genetic determinants of outer retinal function in mice using a large-scale gene-targeted screenJanine M Wotton, Mark P Krebs, Riccardo Sangermano, et al.
Nature Communications|March 20, 2021
New material platform for superconducting transmon qubits with coherence times exceeding 0.3 millisecondsAlexander P M Place, Lila V H Rodgers, Pranav Mundada, et al.
Advanced Science (Weinheim, Baden-Wurttemberg, Germany)|May 11, 2023
Chemical Profiles of the Oxides on Tantalum in State of the Art Superconducting CircuitsRussell A McLellan, Aveek Dutta, Chenyu Zhou, et al.
NPJ Genomic Medicine|June 30, 2021
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRDRiccardo Sangermano, Iris Deitch, Virginie G Peter, et al.
Investigative Ophthalmology & Visual Science|June 29, 2021
Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille SyndromeMariana Matioli da Palma, Austin D Igelman, Cristy Ku, et al.
Medrxiv : the Preprint Server for Health Sciences|January 7, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed casesSarah L Stenton, Kristen Laricchia, Nicole J Lake, et al.
HGG Advances|April 17, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed casesSarah L Stenton, Kristen Laricchia, Nicole J Lake, et al.
American Journal of Ophthalmology|June 17, 2026
SEARCHING FOR NEW GENES THAT CAUSE USHER SYNDROMEAla Moshiri, Niusha Kasiri, Michael Shea, et al.
American Journal of Human Genetics|August 27, 2024
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expressionSamantha Malka, Pooja Biswas, Anne-Marie Berry, et al.
Medrxiv : the Preprint Server for Health Sciences|February 8, 2024
Unique Capabilities of Genome Sequencing for Rare Disease DiagnosisMonica H Wojcik, Gabrielle Lemire, Maha S Zaki, et al.
Pageof 13