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American Journal of Human Genetics|April 9, 2022
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutationsJohn Devane, Elisabeth Ott, Eric G Olinger, et al.American Journal of Human Genetics|December 10, 2021
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotypeSarah R Senum, Ying Sabrina M Li, Katherine A Benson, et al.Plos One|November 14, 2023
Activin type I receptor polymorphisms and body composition in older individuals with sarcopenia-Analyses from the LACE randomised controlled trialTufail Bashir, Marcus Achison, Simon Adamson, et al.Plos One|October 20, 2023
ACE I/D genotype associates with strength in sarcopenic men but not with response to ACE inhibitor therapy in older adults with sarcopenia: Results from the LACE trialChristos Rossios, Tufail Bashir, Marcus Achison, et al.Lancet (London, England)|March 16, 2024
Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohortKatie Wong, David Pitcher, Fiona Braddon, et al.Plos One|August 2, 2024
Association of bradykinin receptor 2 (BDKRB2) variants with physical performance and muscle mass: Findings from the LACE sarcopenia trialAlvin Shrestha, Tufail Bashir, Marcus Achison, et al.Journal of Cachexia, Sarcopenia and Muscle|February 17, 2022
Effect of perindopril or leucine on physical performance in older people with sarcopenia: the LACE randomized controlled trial, Marcus Achison, Simon Adamson, et al.Kidney International Reports|July 31, 2024
Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases CohortKatie Wong, David Pitcher, Fiona Braddon, et al.American Journal of Human Genetics|May 19, 2023
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletionsRia Schönauer, Wenjun Jin, Christin Findeisen, et al.Thorax|February 27, 2016
Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12Victoria E Jackson, Ioanna Ntalla, Ian Sayers, et al.Pageof 52