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Analytical Chemistry|June 21, 2023
Distinguishing Oligosaccharide Isomers Using Far-Infrared Ion Spectroscopy: Identification of Biomarkers for Inborn Errors of MetabolismRianne E van Outersterp, Pieter C Kooijman, Jona Merx, et al.
European Heart Journal|October 16, 2016
A frameshift deletion in the sarcomere gene MYL4 causes early-onset familial atrial fibrillationDaniel F Gudbjartsson, Hilma Holm, Patrick Sulem, et al.
Cochlear Implants International|February 21, 2012
Multicentre investigation on electrically evoked compound action potential and stapedius reflex: how do these objective measures relate to implant programming parameters?Thierry Van Den Abbeele, Nathalie Noël-Petroff, Istemihan Akin, et al.
American Journal of Human Genetics|July 10, 2003
Localization of a susceptibility gene for type 2 diabetes to chromosome 5q34-q35.2Inga Reynisdottir, Gudmar Thorleifsson, Rafn Benediktsson, et al.
BMC Medical Genetics|November 16, 2017
COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPABrynjar O Jensson, Sif Hansdottir, Gudny A Arnadottir, et al.
Scientific Reports|February 17, 2026
A meta-analysis identifies driver genes and characterizes the molecular epidemiology of colorectal cancerSigurgeir Olafsson, Thorri Thorarinsson, Sigurjon A Gudjonsson, et al.
Journal of Inherited Metabolic Disease|July 17, 2023
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspectiveTessa M A Peters, Udo F H Engelke, Siebolt de Boer, et al.
Communications Biology|October 2, 2018
A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobinGudjon R Oskarsson, Ragnar P Kristjansson, Amy L Lee, et al.
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