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Genomics and Rare Diseases

14 ta ish

  1. Frameshifts in Code and in Care

    Nosheen Reza, Jessica L. Chowns, Shana L. Merrill +8

    MaqolaGenomics and Rare DiseasesCirculation Genomic and Precision Medicine20180 iqtibos
    ABI

  2. Children with rare diseases: ethical, social, psychological and medical issues

    S. Ya. Volgina, Е. А. Николаева, А. А. Соколов +3

    MaqolaMedical and Biological SciencesRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)20190 iqtibos
    ABI

  3. Comparative analysis of web-based programs for single amino acid substitutions in proteins

    Arunabh Choudhury, Taj Mohammad, Farah Anjum +7

    MaqolaRNA and protein synthesis mechanismsPLoS ONE20220 iqtibos
    ABI

  4. Telomere biology disorders as an example of rare disease advocacy

    Katie Barrett Stevens, Hannah A. Raj, Jane K. Paxton +1

    MaqolaTelomeres, Telomerase, and SenescenceSeminars in Hematology20250 iqtibos
    ABI

  5. DECODING THE UMOD GENE: IMPLICATIONS FOR CHRONIC KIDNEY DISEASE THROUGH GENETIC MECHANISMS, DIAGNOSTICS, AND THERAPEUTIC INNOVATIONS

    Ташкенбаева Элеонора Негматовна, Mukhammad Esankulov

    MaqolaGenomics and Rare DiseasesMedical science of Uzbekistan20250 iqtibos
    ABI

  6. Polymorphic variants in DOCK7, ABCG8, UBE2E2, and SYN2 genes associated with type 2 diabetes in the Uzbek population

    Darya Zakirova, Alisher Abdullaev, Dilbar Dalimova +5

    MaqolaGenetic Associations and EpidemiologyFrontiers in Clinical Diabetes and Healthcare20250 iqtibos
    ABI

  7. Ethical and Methodological Principles of Genetic Research Involving Psychiatric Patients

    Zarifjon Ashurov, I. I. Khayredinova, L. N. Khegay

    MaqolaGenomics and Rare DiseasesLex genetica.20250 iqtibos
    ABI

  8. Accelerating Drug Discovery Using GenFold-AI for Protein Structure Prediction in Genetic Disease Research

    Sardor Kamolov, Yokubjon Khursanov, Orzu Sokhibnazarov +5

    MaqolaProtein Structure and Dynamics20250 iqtibos
    ABI

  9. EPIDEMIOLOGY AND GENETIC ASPECTS OF CYSTIC FIBROSIS (LITERATURE REVIEW)

    Фарида Муиновна Хамидова, Bekzod Khamraev, Jasur Ismoilov

    MaqolaCystic Fibrosis Research AdvancesMedical science of Uzbekistan20250 iqtibos
    ABI

  10. Genetic susceptibility to post-stroke epilepsy: Differences between male and female patients

    Donoxon Sobirova, G. Rakhimbaeva

    MaqolaEpilepsy research and treatmentJournal of the Neurological Sciences20250 iqtibos
    ABI

  11. In Silico Design and Evaluation of CRISPR-Cas9 Guide RNAs Targeting the HTT Gene for Huntington's Disease Therapy

    Abdul Ali Khan, Humera Fatima, Abdallah Alkhasaky +4

    MaqolaGenetic Neurodegenerative DiseasesInternational Journal of Drug Delivery Technology20260 iqtibos
    ABI

  12. Rare diseases as a global priority: the CIS Orphan Forum and the path toward collaboration with BRICS

    Nuriya Z. Musina, Ahmed Al Saidi, Ayman W. El-Hattab +27

    MaqolaGenomics and Rare DiseasesThe BRICS Health Journal20260 iqtibos
    ABI

  13. RARE GENETIC DISEASES: CHALLENGES IN DIAGNOSIS, TREATMENT, AND FUTURE PERSPECTIVES

    Ruxshona Jasurbek kizi Murodillayeva, Adxam Uktamjonovich Tirkashev, Fotima Anvar kizi Ergasheva +1

    MaqolaGenomics and Rare DiseasesZenodo (CERN European Organization for Nuclear Research)20260 iqtibos
    ABI

  14. RARE GENETIC DISEASES: CHALLENGES IN DIAGNOSIS, TREATMENT, AND FUTURE PERSPECTIVES

    Ruxshona Jasurbek kizi Murodillayeva, Adxam Uktamjonovich Tirkashev, Fotima Anvar kizi Ergasheva +1

    MaqolaGenomics and Rare DiseasesZenodo (CERN European Organization for Nuclear Research)20260 iqtibos
    ABI