Showing results (1421-1430 of 1,488) with videos related to

Sort By:
Pageof 149
Human Molecular Genetics|March 4, 2025
A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell modelsJulio C Corral-Serrano, Veronika Vaclavik, Stijn Van de Sompele, et al.
Hormone Research in Paediatrics|March 12, 2024
National Service Evaluation of the Quality of Care for Children and Young People with Congenital Adrenal Hyperplasia in the UK: Survey Responses from Patients and CliniciansNeil R Lawrence, Irina A Bacila, Gary Collins, et al.
Nature Communications|November 22, 2023
Interfacial alloying between lead halide perovskite crystals and hybrid glassesXuemei Li, Wengang Huang, Andraž Krajnc, et al.
The New England Journal of Medicine|October 6, 2021
Obesity-Associated <i>GNAS</i> Mutations and the Melanocortin PathwayEdson Mendes de Oliveira, Julia M Keogh, Fleur Talbot, et al.
Human Molecular Genetics|September 9, 2022
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophiesMalena Daich Varela, James Bellingham, Fabiana Motta, et al.
Molecular Therapy. Nucleic Acids|July 13, 2020
Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt DiseaseMubeen Khan, Gavin Arno, Ana Fakin, et al.
American Journal of Ophthalmology|May 5, 2025
Natural History of Microperimetry and Optical Coherence Tomography in USH2A-Retinopathy: A Structure-Function Association StudyAjoy Vincent, Wendi Liang, Maureen G Maguire, et al.
Journal of Managed Care & Specialty Pharmacy|January 7, 2015
Utilizing data consortia to monitor safety and effectiveness of biosimilars and their innovator products, Mike Baldziki, Jeff Brown, et al.
BMJ Open|March 4, 2019
Renewed: Protocol for a randomised controlled trial of a digital intervention to support quality of life in cancer survivorsAdele Krusche, Katherine Bradbury, Teresa Corbett, et al.
American Journal of Ophthalmology|May 25, 2020
Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease SeverityJacque L Duncan, Wendi Liang, Maureen G Maguire, et al.
Pageof 149