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Genomics and Rare Diseases

Работ: 14

  1. Frameshifts in Code and in Care

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

    СтатьяGenomics and Rare DiseasesCirculation Genomic and Precision Medicine2018Цитирований: 0
    ABI

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

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

    СтатьяMedical and Biological SciencesRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)2019Цитирований: 0
    ABI

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

    Arunabh Choudhury, Taj Mohammad, Farah Anjum +7

    СтатьяRNA and protein synthesis mechanismsPLoS ONE2022Цитирований: 0
    ABI

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

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

    СтатьяTelomeres, Telomerase, and SenescenceSeminars in Hematology2025Цитирований: 0
    ABI

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

    Ташкенбаева Элеонора Негматовна, Mukhammad Esankulov

    СтатьяGenomics and Rare DiseasesMedical science of Uzbekistan2025Цитирований: 0
    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

    СтатьяGenetic Associations and EpidemiologyFrontiers in Clinical Diabetes and Healthcare2025Цитирований: 0
    ABI

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

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

    СтатьяGenomics and Rare DiseasesLex genetica.2025Цитирований: 0
    ABI

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

    Sardor Kamolov, Yokubjon Khursanov, Orzu Sokhibnazarov +5

    СтатьяProtein Structure and Dynamics2025Цитирований: 0
    ABI

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

    Фарида Муиновна Хамидова, Bekzod Khamraev, Jasur Ismoilov

    СтатьяCystic Fibrosis Research AdvancesMedical science of Uzbekistan2025Цитирований: 0
    ABI

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

    Donoxon Sobirova, G. Rakhimbaeva

    СтатьяEpilepsy research and treatmentJournal of the Neurological Sciences2025Цитирований: 0
    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

    СтатьяGenetic Neurodegenerative DiseasesInternational Journal of Drug Delivery Technology2026Цитирований: 0
    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

    СтатьяGenomics and Rare DiseasesThe BRICS Health Journal2026Цитирований: 0
    ABI

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

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

    СтатьяGenomics and Rare DiseasesZenodo (CERN European Organization for Nuclear Research)2026Цитирований: 0
    ABI

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

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

    СтатьяGenomics and Rare DiseasesZenodo (CERN European Organization for Nuclear Research)2026Цитирований: 0
    ABI