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American Journal of Human Genetics|February 3, 2007
Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancerKarsten Bork Nielsen, Suzette Sørensen, Luca Cartegni, et al.Gastroenterology|December 6, 2014
Truncating mutation in the nitric oxide synthase 1 gene is associated with infantile achalasiaEyal Shteyer, Simon Edvardson, Sarah L Wynia-Smith, et al.The Journal of Experimental Medicine|June 1, 2016
Early onset combined immunodeficiency and autoimmunity in patients with loss-of-function mutation in LATBaerbel Keller, Irina Zaidman, O Sascha Yousefi, et al.Molecular Genetics and Metabolism|May 28, 2013
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduriaFrederic Tort, María Teresa García-Silva, Xènia Ferrer-Cortès, et al.American Journal of Human Genetics|March 21, 2017
Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal SyndromeAsaf Ta-Shma, Tahir N Khan, Asaf Vivante, et al.Journal of Clinical Immunology|December 19, 2023
Combined Immunodeficiency Caused by a Novel Nonsense Mutation in LCKBaerbel Keller, Shlomit Kfir-Erenfeld, Paul Matusewicz, et al.The Journal of Allergy and Clinical Immunology|February 5, 2013
Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjectsPolina Stepensky, Baerbel Keller, Mary Buchta, et al.American Journal of Human Genetics|October 19, 2010
Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complexRami Kaufmann, Rachel Straussberg, Hanna Mandel, et al.Journal of Medical Genetics|December 29, 2022
Consolidating the association of biallelic <i>MAPKAPK5</i> pathogenic variants with a distinct syndromic neurodevelopmental disorderReza Maroofian, Stephanie Efthymiou, Mohnish Suri, et al.Journal of Medical Genetics|October 4, 2016
Mutations in the phosphatidylinositol glycan C (<i>PIGC</i>) gene are associated with epilepsy and intellectual disabilitySimon Edvardson, Yoshiko Murakami, Thi Tuyet Mai Nguyen, et al.Pageof 22