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BMC Infectious Diseases|January 19, 2024
Study protocol: a pragmatic, cluster-randomized controlled trial to evaluate the effect of implementation of the Truenat platform/MTB assays at primary health care clinics in Mozambique and Tanzania (TB-CAPT CORE)V N Leukes, J Hella, I Sabi, et al.
Acta Neuropathologica|August 1, 2024
The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagyJonasz J Weber, Leah Czisch, Priscila Pereira Sena, et al.
American Journal of Human Genetics|January 17, 2025
Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsyRebecca Buchert, Martin D Burkhalter, Chrisovalantou Huridou, et al.
European Journal of Human Genetics : EJHG|May 16, 2022
Recommendations for whole genome sequencing in diagnostics for rare diseasesErika Souche, Sergi Beltran, Erwin Brosens, et al.
Brain : a Journal of Neurology|June 29, 2014
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genesSophie Tezenas du Montcel, Alexandra Durr, Peter Bauer, et al.
Science (New York, N.Y.)|March 7, 2015
Astrophysics. Multiple images of a highly magnified supernova formed by an early-type cluster galaxy lensPatrick L Kelly, Steven A Rodney, Tommaso Treu, et al.
Cell|January 21, 2014
Leveraging cross-species transcription factor binding site patterns: from diabetes risk loci to disease mechanismsMelina Claussnitzer, Simon N Dankel, Bernward Klocke, et al.
Nature Genetics|November 7, 2017
Evolution and clinical impact of co-occurring genetic alterations in advanced-stage EGFR-mutant lung cancersCollin M Blakely, Thomas B K Watkins, Wei Wu, et al.
The Journal of General Virology|October 8, 2021
Head-to-head evaluation of seven different seroassays including direct viral neutralisation in a representative cohort for SARS-CoV-2Laura Olbrich, Noemi Castelletti, Yannik Schälte, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|December 15, 2022
Adjuvant <i>nab</i>-Paclitaxel + Gemcitabine in Resected Pancreatic Ductal Adenocarcinoma: Results From a Randomized, Open-Label, Phase III TrialMargaret A Tempero, Uwe Pelzer, Eileen M O'Reilly, et al.
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