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Molecular Genetics and Metabolism|April 5, 2011
Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiencyKatharina Danhauser, Arcangela Iuso, Tobias B Haack, et al.The Journal of Biological Chemistry|July 7, 2005
Differential localization and identification of a critical aspartate suggest non-redundant proteolytic functions of the presenilin homologues SPPL2b and SPPL3Peter Krawitz, Christof Haffner, Regina Fluhrer, et al.European Journal of Human Genetics : EJHG|May 23, 2025
Workflow analysis and evaluation of a next-generation phenotyping tool: A qualitative study of Face2GeneKatharina Wenderott, Jim Krups, Fiona Zaruchas, et al.Tremor and Other Hyperkinetic Movements (New York, N.Y.)|October 31, 2017
A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of WDR45Andreas Hermann, Hagen H Kitzler, Tobias Pollack, et al.European Journal of Human Genetics : EJHG|May 11, 2017
Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limbMuhammad Umair, Khadim Shah, Bader Alhaddad, et al.Journal of Neurology|April 3, 2021
A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotypeDavid Mengel, Andreas Traschütz, Selina Reich, et al.Bioinformatics (Oxford, England)|February 11, 2010
Microindel detection in short-read sequence dataPeter Krawitz, Christian Rödelsperger, Marten Jäger, et al.Human Mutation|March 29, 2014
Jannovar: a java library for exome annotationMarten Jäger, Kai Wang, Sebastian Bauer, et al.BMC Medical Genomics|July 12, 2023
Assessing the performance of European-derived cardiometabolic polygenic risk scores in South-Asians and their interplay with family historyEmadeldin Hassanin, Carlo Maj, Hannah Klinkhammer, et al.Journal of Neurology|January 9, 2022
Characterization of cognitive impairment in adult polyglucosan body diseasePaul Theo Zebhauser, Isabell Cordts, Holger Hengel, et al.Pageof 38