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European Journal of Medical Genetics|June 7, 2024
Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committeeDavid R Adams, Clara D M van Karnebeek, Sergi Beltran Agulló, et al.HRB Open Research|April 15, 2021
The future of genomics in Ireland - focus on genomics for healthCathal Seoighe, Adrian P Bracken, Patrick Buckley, et al.Nature Communications|August 18, 2016
Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq)Julien Lagarde, Barbara Uszczynska-Ratajczak, Javier Santoyo-Lopez, et al.Journal of Immunology (Baltimore, Md. : 1950)|October 7, 2015
Ptpn22 and Cd2 Variations Are Associated with Altered Protein Expression and Susceptibility to Type 1 Diabetes in Nonobese Diabetic MiceHeather I Fraser, Sarah Howlett, Jan Clark, et al.Genomics|November 14, 2009
Genome-wide end-sequenced BAC resources for the NOD/MrkTac() and NOD/ShiLtJ() mouse genomesCharles A Steward, Sean Humphray, Bob Plumb, et al.Journal of Immunology (Baltimore, Md. : 1950)|May 27, 2011
Evidence that Cd101 is an autoimmune diabetes gene in nonobese diabetic miceDaniel B Rainbow, Carolyn Moule, Heather I Fraser, et al.Epilepsia|March 16, 2024
Somatic variants as a cause of drug-resistant epilepsy including mesial temporal lobe epilepsy with hippocampal sclerosisRobert J Carton, Michael G Doyle, Hugh Kearney, et al.European Journal of Human Genetics : EJHG|April 3, 2020
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disabilityKatherine A Benson, Maire White, Nicholas M Allen, et al.NPJ Genomic Medicine|December 10, 2019
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in <i>SCN1A</i>Charles A Steward, Jolien Roovers, Marie-Marthe Suner, et al.Nature|September 17, 2011
Mouse genomic variation and its effect on phenotypes and gene regulationThomas M Keane, Leo Goodstadt, Petr Danecek, et al.Pageof 3