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Genomics and Rare Diseases

14 works

  1. Frameshifts in Code and in Care

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

    ArticleGenomics and Rare DiseasesCirculation Genomic and Precision Medicine20180 citations
    ABI

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

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

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

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

    Arunabh Choudhury, Taj Mohammad, Farah Anjum +7

    ArticleRNA and protein synthesis mechanismsPLoS ONE20220 citations
    ABI

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

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

    ArticleTelomeres, Telomerase, and SenescenceSeminars in Hematology20250 citations
    ABI

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

    Ташкенбаева Элеонора Негматовна, Mukhammad Esankulov

    ArticleGenomics and Rare DiseasesMedical science of Uzbekistan20250 citations
    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

    ArticleGenetic Associations and EpidemiologyFrontiers in Clinical Diabetes and Healthcare20250 citations
    ABI

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

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

    ArticleGenomics and Rare DiseasesLex genetica.20250 citations
    ABI

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

    Sardor Kamolov, Yokubjon Khursanov, Orzu Sokhibnazarov +5

    ArticleProtein Structure and Dynamics20250 citations
    ABI

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

    Фарида Муиновна Хамидова, Bekzod Khamraev, Jasur Ismoilov

    ArticleCystic Fibrosis Research AdvancesMedical science of Uzbekistan20250 citations
    ABI

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

    Donoxon Sobirova, G. Rakhimbaeva

    ArticleEpilepsy research and treatmentJournal of the Neurological Sciences20250 citations
    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

    ArticleGenetic Neurodegenerative DiseasesInternational Journal of Drug Delivery Technology20260 citations
    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

    ArticleGenomics and Rare DiseasesThe BRICS Health Journal20260 citations
    ABI

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

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

    ArticleGenomics and Rare DiseasesZenodo (CERN European Organization for Nuclear Research)20260 citations
    ABI

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

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

    ArticleGenomics and Rare DiseasesZenodo (CERN European Organization for Nuclear Research)20260 citations
    ABI