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Caries Research|May 23, 2015
Lactotransferrin Gene Polymorphism Associated with Caries ExperienceAndrea D Doetzer, João A Brancher, Giovana D Pecharki, et al.
Neurology. Genetics|June 30, 2025
A Retrospective Cohort Study of the GLA c.937G > T, p.Asp313Tyr Variant With No Evidence of an Association With Fabry DiseaseTobias Boettcher, Christian Beetz, Daniel Schulze, et al.
NPJ Parkinson'S Disease|January 10, 2026
Metabolomic breath landscape analysis unravels lipid biomarker candidates in patients with genetic and idiopathic Parkinson's diseaseMadiha Malik, Norbert Brüggemann, Tatiana Usnich, et al.
Scientific Reports|October 30, 2023
Neuronal progenitor cells-based metabolomics study reveals dysregulated lipid metabolism and identifies putative biomarkers for CLN6 diseaseCorina-Marcela Rus, Daniel L Polla, Sebastiano Di Bucchianico, et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association|October 20, 2005
Diagnostic value of quantitative hepatic copper determination in patients with Wilson's DiseasePeter Ferenci, Petra Steindl-Munda, Wolfgang Vogel, et al.
Lancet (London, England)|September 25, 2012
Mortality after surgery in Europe: a 7 day cohort studyRupert M Pearse, Rui P Moreno, Peter Bauer, et al.
Journal of Medical Genetics|May 24, 2025
RNU4-2 monoallelic variants as a leading cause of syndromic neurodevelopmental disorder, including in patients with parental consanguinityAida M Bertoli-Avella, Christian A Ganoza, Mariana Ferreira, et al.
Human Mutation|December 26, 2001
NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypesPeter Bauer, Rupert Knoblich, Claudia Bauer, et al.
Intensive Care Medicine|March 17, 2009
Epidemiology of mechanical ventilation: analysis of the SAPS 3 databasePhilipp G H Metnitz, Barbara Metnitz, Rui P Moreno, et al.
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