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Journal of Medical Genetics|September 20, 2013
Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencingBenjamin Nota, Eline M Hamilton, Daoud Sie, et al.
Neurogenetics|March 20, 2008
Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiencyOfir T Betsalel, Jiddeke M van de Kamp, Cristina Martínez-Muñoz, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|December 3, 2014
Pilot randomized trial of selective internal radiation therapy vs. chemoembolization in unresectable hepatocellular carcinomaFrank T Kolligs, Jose I Bilbao, Tobias Jakobs, et al.
Surgical Endoscopy|March 14, 2018
Diagnostic and therapeutic single-operator cholangiopancreatoscopy with SpyGlassDS™: results of a multicenter retrospective cohort studyFelicia Turowski, Ulrich Hügle, Arno Dormann, et al.
World Journal of Gastroenterology|August 23, 2018
PillCamColon2 after incomplete colonoscopy - A prospective multicenter studyPeter Baltes, Marc Bota, Jörg Albert, et al.
Cells|December 24, 2021
Pleiotropic Effects of the Protease-Activated Receptor 1 (PAR1) Inhibitor, Vorapaxar, on Atherosclerosis and Vascular InflammationJulian Friebel, Eileen Moritz, Marco Witkowski, et al.
Molecular Genetics and Metabolism|June 28, 2005
Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7M L Cardoso, A Balreira, E Martins, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|August 28, 2018
Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the NetherlandsJeannette E Dankert-Roelse, Marelle J Bouva, Bernadette S Jakobs, et al.
Journal of Inherited Metabolic Disease|October 13, 2009
Development and implementation of a novel assay for L-2-hydroxyglutarate dehydrogenase (L-2-HGDH) in cell lysates: L-2-HGDH deficiency in 15 patients with L-2-hydroxyglutaric aciduriaM Kranendijk, G S Salomons, K M Gibson, et al.
JMIR Research Protocols|May 26, 2025
Immunogenicity of COVID-19 Vaccination in Immunocompromised Patients (Auto-COVID-VACC): Protocol for Multicenter Prospective Noninterventional StudyLouise Marie Cremer, Ullrich Bethe, Peter Borchmann, et al.
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