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  1. 1101
    por Elsayed, Omnia, Al‐Shamsi, Aisha
    Publicado 2022
    “…METHODS: Retrospective chart review of all Emirati patients assessed by clinical geneticists due to NSHL during the period between January 2010 to December 2020. …”
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    Mutation spectrum of non‐syndromic hearing loss in the UAE, a retrospective cohort study and literature review
  2. 1102
    “…Therefore, the analysis of the mapped QTLs and their genetic dissection in the US grown Japonica rice genotypes at genomic and transcriptomic levels provide deep insights into genetic variation beneficial to rice breeders and geneticists for understanding the mechanisms related to grain quality under heat stress in rice.…”
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    Molecular mapping and characterization of QTLs for grain quality traits in a RIL population of US rice under high nighttime temperature stress
  3. 1103
    “…Here, we describe the development of an EST catalogue that will support ecosystem genomics studies, where geneticists, ecophysiologists, molecular biologists and ecologists join their efforts for understanding, monitoring and predicting functional genetic diversity. …”
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    Bioinformatic analysis of ESTs collected by Sanger and pyrosequencing methods for a keystone forest tree species: oak
  4. 1104
    “…Increasing feed costs prompt geneticists to include feed intake and efficiency as selection goals in breeding programs. …”
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    Genome-wide association studies for feed intake and efficiency in two laying periods of chickens
  5. 1105
    “…The different scenarios evaluated in this study will help geneticists and breeders to make wiser decisions in their breeding programs. …”
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    Prediction of genomic breeding values for growth, carcass and meat quality traits in a multi-breed sheep population using a HD SNP chip
  6. 1106
    “…In addition, it will help geneticists to identify genomic regions which have been preferentially selected within a variety of breeds and populations. …”
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    Estimation of linkage disequilibrium and effective population size in New Zealand sheep using three different methods to create genetic maps
  7. 1107
    “…Unlike pathogenic and likely pathogenic variants, understanding the clinical importance of novel missense variants or variants of uncertain significance (VUS) is the biggest challenge for clinicians or medical geneticists. Functional characterization is the only way to understand the clinical association of novel missense variants or VUS but it is time consuming, costly, and depends on the availability of patient’s samples. …”
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    KVarPredDB: a database for predicting pathogenicity of missense sequence variants of keratin genes associated with genodermatoses
  8. 1108
    “…However, independent and timely high-throughput next-generation sequencing data analysis is still a challenge for non-computational biologists and geneticists. RESULTS: In this manuscript, we present a findable, accessible, interactive, and reusable (FAIR) bioinformatics platform, i.e., GVViZ (visualizing genes with disease-causing variants). …”
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    Advancing clinical genomics and precision medicine with GVViZ: FAIR bioinformatics platform for variable gene-disease annotation, visualization, and expression analysis
  9. 1109
    “…METHODS: We assembled a working group of clinicians, geneticists, data visualization specialists, and software developers. …”
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    Design and user experience testing of a polygenic score report: a qualitative study of prospective users
  10. 1110
    por Lizama, Sergio, Malek, Rana
    Publicado 2019
    “…Management is individualized and revolves around a multidisciplinary team including surgeons, endocrinologists, geneticists, medical ethics, and clinical psychologists. …”
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    MON-193 Androgen Insensitivity Syndrome: A Tale of Two Tails
  11. 1111
    “…EXPOSURES: Genetic care models, which included VA-telehealth (ie, a centralized team of genetic counselors serving VA facilities nationwide), VA-traditional (ie, a regional service by clinical geneticists and genetic counselors), and non-VA care (ie, community care purchased by the VA). …”
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    Demographic Differences Among US Department of Veterans Affairs Patients Referred for Genetic Consultation to a Centralized VA Telehealth Program, VA Medical Centers, or the Community
  12. 1112
    “…This approach may help geneticists and breeders to more efficiently identify major QTL controlling other traits. …”
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    Identification of QTL with large effect on seed weight in a selective population of soybean with genome-wide association and fixation index analyses
  13. 1113
    “…Improved insight into genetic causes would be valuable for patients, families, and medical geneticists. Very few systematic genetic screens have been carried out for patients with CH. …”
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    Novel Pathogenic Variants in LHX3, LHX4 and GLI2 Identified in Pediatric Patients With Congenital Hypopituitarism: From Variant Calling To Variant Testing
  14. 1114
    “…As detecting transcriptomic changes in the functional human brain remains a challenge for geneticists, we used peripheral blood to study music-performance induced microRNA changes and interpreted the results in terms of potential effects on brain function, based on the current knowledge about the microRNA function in blood and brain. …”
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    Music-performance regulates microRNAs in professional musicians
  15. 1115
    por Gameiro, S, Sousa-Leite, M, Vermeulen, N
    Publicado 2019
    “…MAIN RESULTS AND THE ROLE OF CHANCE: The final sample consisted of 658 participants (not possible to calculate response rate), with the majority being embryologists, biologists or geneticists (n = 268, 40.7%), followed by clinicians (n = 260, 39.5%), scientists (n = 48, 7.3%), nurses or midwives (n = 30, 4.6%), psychologists, counsellors or social workers (n = 28, 4.3%) and others (e.g. medical student, lab manager, marketing, ethicist; n = 24, 3.6%). …”
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    Dissemination, implementation and impact of the ESHRE evidence-based guidelines
  16. 1116
    “…Another article by Ong et al. also laid emphasis on the importance of various high-throughput sequencing platforms, thanks to which a large number of genomic databases supplied with detailed annotation and useful bioinformatics tools have been established to assist geneticists. Readers can find in this review the summary of available plant-specific genomic databases up-to-date and popular web-based resources that are relevant for comparative genomics, plant evolution and phylogenomics studies. …”
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    Enhancement of Plant Productivity in the Post-Genomics Era
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