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The Journal of Molecular Diagnostics : JMD|October 10, 2009
Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descentLisa Kalman, Jean Amos Wilson, Arlene Buller, et al.Cancer Cell International|July 17, 2013
Localization of BRCA1 protein in breast cancer tissue and cell lines with mutationsNatalie Tulchin, Leonard Ornstein, Steven Dikman, et al.BMC Medical Genomics|October 18, 2008
Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMTGuiqing Cai, Lisa Edelmann, Juliet E Goldsmith, et al.Genome Medicine|September 5, 2015
ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratoriesJinlian Wang, Jun Liao, Jinglan Zhang, et al.Orphanet Journal of Rare Diseases|May 2, 2024
An algorithm to identify patients aged 0-3 with rare genetic disordersBryn D Webb, Lisa Y Lau, Despina Tsevdos, et al.Human Mutation|September 4, 2022
Long-read HiFi sequencing of NUDT15: Phased full-gene haplotyping and pharmacogenomic allele discoveryErick R Scott, Yao Yang, Mariana R Botton, et al.The Journal of Molecular Diagnostics : JMD|August 5, 2022
Characterization of Reference Materials for TPMT and NUDT15: A GeT-RM Collaborative ProjectVictoria M Pratt, Wendy Y Wang, Erin C Boone, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 11, 2018
The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 InfantsMelissa P Wasserstein, Michele Caggana, Sean M Bailey, et al.Journal of Medical Genetics|September 15, 2006
An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autismLisa Edelmann, Aaron Prosnitz, Sherly Pardo, et al.Cold Spring Harbor Molecular Case Studies|June 12, 2021
Deletion of ERF and CIC causes abnormal skull morphology and global developmental delayRam Singh, Ana S A Cohen, Cathryn Poulton, et al.Pageof 7