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Showing 1–4 of 4 results

Advanced filters: Author: Richard Zeltner Clear advanced filters

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Analysis of snRNA genes in individuals with rare disorders identifies de novo and recurrent variants in RNU5B-1 and RNU5A-1, in addition to previously unreported cases with pathogenic or likely pathogenic variants in RNU4-2.

Caroline Nava
Benjamin Cogne
Christel Depienne
ResearchOpen Access16 May 2025
Nature Genetics

Volume: 57, P: 1374-1388
Long-range optical trapping and binding of microparticles in hollow-core photonic crystal fibre

Dmitry S. Bykov
Shangran Xie
Philip St.J. Russell
ResearchOpen Access20 Jun 2018
Light: Science & Applications

Volume: 7, P: 1-7
Three-photon head-mounted microscope for imaging deep cortical layers in freely moving rats

A head-mounted three-photon microscope based on a custom-designed optical fiber and dispersion compensation enables imaging of activity from neuronal populations deep in the cortex of freely moving rats.

Alexandr Klioutchnikov
Damian J. Wallace
Jason N. D. Kerr
Research04 May 2020
Nature Methods

Volume: 17, P: 509-513
Specific Approach on Dose-Response Curves to Inhaled Carbachol Assessed by the Interruption Technique in Children

Cornelia Wirz Sommer
Urs Frey
Richard Kraemer
Research01 Oct 1993
Pediatric Research

Volume: 34, P: 478-483