Showing 761 - 780 results of 5,161 for search '"genomics"', query time: 0.10s Refine Results
  1. 761

    Identification and Characterization of a Cryptic Genomic Deletion-Insertion in EYA1 Associated with Branchio-Otic Syndrome by Hao Zheng, Jun Xu, Yu Wang, Yun Lin, Qingqiang Hu, Xing Li, Jiusheng Chu, Changling Sun, Yongchuan Chai, Xiuhong Pang

    Published 2021-01-01
    “…Our results showed that the genomic variant is responsible for the hearing loss associated with BOS and provided an example for deciphering such cryptic genomic alterations following pipelines of comprehensive exome/genome sequencing and designed verification.…”
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    College of American Pathologists (CAP)/American College of Medical Genetics and Genomics (ACMG) proficiency testing for urinary glycosaminoglycan analysis: A summary of performance by Kristina Cusmano-Ozog, Dietrich Matern, Thomas Long, Nicola Longo, Sarah Young

    Published 2025-01-01
    “…Since 1993, the College of American Pathologists with the American College of Medical Genetics and Genomics has offered proficiency testing (PT) for urine GAG analysis accessible to laboratories worldwide. …”
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  16. 776

    Genetics : genes, genomes, and evolution / by Dawes Hoang, Rachel, Okeke, Iruka N., 1970-

    Published 2017
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    Book
  17. 777

    Genetics : analysis of genes and genomes / by Hartl, Daniel L., Cochrane, Bruce

    Published 2019
    Table of Contents: “…Genes, genomes and genetic analysis -- DNA structure and genetic variation -- Transmission genetics : the principle of segregation -- The chromosomal basis of inheritance -- Genetic linkage and chromosome mapping -- Human karyotypes and chromosome behavior -- The genetics of complex characters -- Genetics of the bacteria and their viruses -- Molecular organization of chromosomes and genomes -- DNA replication and sequencing -- Mutation, repair, and recombination -- Molecular biology of gene expression -- Molecular mechanisms of gene regulation -- Manipulating genes and genomes -- Genetic control of development -- The genetics of cancer -- Extranuclear inheritance -- Genetics of populations -- Human evolution.…”
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