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JAMA Neurology|August 19, 2014
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxiaBrent L Fogel, Hane Lee, Joshua L Deignan, et al.American Journal of Medical Genetics. Part A|March 16, 2017
De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomaliesSureni V Mullegama, Steven D Klein, Milene V Mulatinho, et al.Genes, Chromosomes & Cancer|November 7, 2015
An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing studyRina Kansal, Xinmin Li, Joseph Shen, et al.Science (New York, N.Y.)|June 8, 2012
Interactions between commensal fungi and the C-type lectin receptor Dectin-1 influence colitisIliyan D Iliev, Vincent A Funari, Kent D Taylor, et al.American Journal of Human Genetics|March 3, 2015
De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delayValerie A Arboleda, Hane Lee, Naghmeh Dorrani, et al.Human Molecular Genetics|August 2, 2014
Analysis of the ABCA4 genomic locus in Stargardt diseaseJana Zernant, Yajing Angela Xie, Carmen Ayuso, et al.Neurology. Genetics|August 6, 2020
Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1Szabolcs Szelinger, Jonida Krate, Keri Ramsey, et al.JAMA|October 19, 2014
Clinical exome sequencing for genetic identification of rare Mendelian disordersHane Lee, Joshua L Deignan, Naghmeh Dorrani, et al.Medrxiv : the Preprint Server for Health Sciences|May 20, 2024
Development of a comprehensive cardiovascular disease genetic risk assessment testLaura M Amendola, Alison J Coffey, Josh Lowry, et al.Genetics in Medicine Open|January 19, 2026
Development of a comprehensive cardiovascular disease genetic risk assessment testLaura M Amendola, Alison J Coffey, Josh Lowry, et al.Pageof 4