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Molecular Genetics and Metabolism|June 9, 2009
Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplificationEfraim H Rosenberg, Eduard A Struys, Keith Hyland, et al.Human Mutation|October 28, 2006
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) geneBarbara Plecko, Karl Paul, Eduard Paschke, et al.Journal of Medical Genetics|June 21, 2013
Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnosticsOlaf R F Mook, Martin A Haagmans, Jean-François Soucy, et al.The Journal of Cell Biology|August 14, 2023
Presynapses contain distinct actin nanostructuresDominic Bingham, Channa Elise Jakobs, Florian Wernert, et al.Nature Communications|September 15, 2020
Low elevation of Svalbard glaciers drives high mass loss variabilityBrice Noël, C L Jakobs, W J J van Pelt, et al.European Journal of Human Genetics : EJHG|August 19, 2010
Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD databaseOfir T Betsalel, Efraim H Rosenberg, Ligia S Almeida, et al.Cytogenetic and Genome Research|September 10, 2009
Topo IIIalpha and BLM act within the Fanconi anemia pathway in response to DNA-crosslinking agentsA W Hemphill, Y Akkari, A H Newell, et al.Frontiers in Human Neuroscience|January 9, 2014
Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD)Martha Spilioti, Athanasios E Evangeliou, Despoina Tramma, et al.Frontiers in Cell and Developmental Biology|August 28, 2023
Age-dependent structural reorganization of utricular ribbon synapsesSusann Michanski, Timo Henneck, Mohona Mukhopadhyay, et al.American Journal of Physiology. Renal Physiology|June 6, 2014
Gp130-dependent signaling in the podocyteYoshikuni Nagayama, Gerald S Braun, Christina M Jakobs, et al.Pageof 199