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Clinical Chemistry|January 3, 2025
SARS-CoV-2 Diversity and Transmission on a University Campus across Two Academic Years during the PandemicAmanda M Casto, Miguel I Paredes, Julia C Bennett, et al.Nature Genetics|August 17, 2010
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndromeSarah B Ng, Abigail W Bigham, Kati J Buckingham, et al.American Journal of Human Genetics|December 25, 2012
Mutations in ECEL1 cause distal arthrogryposis type 5DMargaret J McMillin, Jennifer E Below, Kathryn M Shively, et al.American Journal of Human Genetics|December 25, 2012
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesiaMichael R Knowles, Margaret W Leigh, Lawrence E Ostrowski, et al.Nature Genetics|August 13, 2013
GRIN2A mutations cause epilepsy-aphasia spectrum disordersGemma L Carvill, Brigid M Regan, Simone C Yendle, et al.JAMA Pediatrics|June 11, 2021
Comparison of Symptoms and RNA Levels in Children and Adults With SARS-CoV-2 Infection in the Community SettingErin Chung, Eric J Chow, Naomi C Wilcox, et al.American Journal of Human Genetics|October 9, 2012
Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesiaAmjad Horani, Todd E Druley, Maimoona A Zariwala, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 4, 2015
Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohortRanad Shaheen, Nisha Patel, Hanan Shamseldin, et al.American Journal of Human Genetics|May 1, 2012
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndromeFrancois P Bernier, Oana Caluseriu, Sarah Ng, et al.American Journal of Human Genetics|January 6, 2015
MAT2A mutations predispose individuals to thoracic aortic aneurysmsDong-chuan Guo, Limin Gong, Ellen S Regalado, et al.Pageof 47