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Clinical Pharmacology and Therapeutics|June 14, 2023
Clinical Pharmacogenomic MT-RNR1 Screening for Aminoglycoside-Induced Ototoxicity and the Post-Test Counseling ConundrumRobert Rigobello, Jay Shaw, Daniel Ilg, et al.The Journal of Molecular Diagnostics : JMD|January 17, 2016
Analytical Validation of a Personalized Medicine APOL1 Genotyping Assay for Nondiabetic Chronic Kidney Disease Risk AssessmentJinglan Zhang, Anastasia Fedick, Stephanie Wasserman, et al.Journal of Human Genetics|August 28, 2015
Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetranceBeom Hee Lee, Christos Kasparis, Brenden Chen, et al.Molecular Genetics & Genomic Medicine|June 21, 2019
Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpointsLisong Shi, Yan Bai, Yara Kharbutli, et al.American Journal of Medical Genetics. Part A|March 6, 2020
Haploinsufficiency of the basic helix-loop-helix transcription factor HAND2 causes congenital heart defectsAna S A Cohen, Christopher Simotas, Bryn D Webb, et al.Human Mutation|July 2, 2019
Structural variation at the CYP2C locus: Characterization of deletion and duplication allelesMariana R Botton, Xingwu Lu, Geping Zhao, et al.American Journal of Medical Genetics. Part A|April 11, 2012
Complex autism spectrum disorder in a patient with a 17q12 microduplicationTracy Brandt, Khyati Desai, David Grodberg, et al.Pediatric Neurology|February 4, 2014
Setleis syndrome: genetic and clinical findings in a new case with epilepsyLucio Giordano, Robert J Desnick, Anna Molinaro, et al.BMC Medical Genomics|April 25, 2014
Analytical validation of whole exome and whole genome sequencing for clinical applicationsMichael D Linderman, Tracy Brandt, Lisa Edelmann, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 22, 2013
An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophyMinjie Luo, Liu Liu, Inga Peter, et al.Pageof 7