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Genes|October 27, 2022
Participant Choice towards Receiving Potential Additional Findings in an Australian Nephrology Research Genomics StudyRosie O'Shea, Alasdair Wood, Chirag Patel, et al.Pediatric Neurology|October 15, 2013
Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsyAdeline Vanderver, Cas Simons, Johanna L Schmidt, et al.Kidney Medicine|August 1, 2020
Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic TranslationAndrew J Mallett, Catherine Quinlan, Chirag Patel, et al.European Journal of Human Genetics : EJHG|November 28, 2013
Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1Ivan Prokudin, Cas Simons, John R Grigg, et al.Developmental Dynamics : an Official Publication of the American Association of Anatomists|February 26, 2019
Myosin Vb is required for correct trafficking of N-cadherin and cardiac chamber ballooningDaniela R Grassini, Jason da Silva, Thomas E Hall, et al.Biology Open|November 30, 2016
Utilising polymorphisms to achieve allele-specific genome editing in zebrafishSamuel J Capon, Gregory J Baillie, Neil I Bower, et al.Frontiers in Molecular Neuroscience|April 5, 2018
Expression Pattern of the Aspartyl-tRNA Synthetase DARS in the Human BrainDominik Fröhlich, Alexandra K Suchowerska, Carola Voss, et al.Frontiers in Medicine|June 20, 2022
The HIDDEN Protocol: An Australian Prospective Cohort Study to Determine the Utility of Whole Genome Sequencing in Kidney Failure of Unknown AetiologyJacqueline Soraru, Sadia Jahan, Catherine Quinlan, et al.Journal of Medical Genetics|October 25, 2014
Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disabilityDavid Hunt, Richard J Leventer, Cas Simons, et al.Plos One|August 14, 2014
Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patientDavid K Miller, Minal J Menezes, Cas Simons, et al.Pageof 12