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Human genetics

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961 studies

  1. Semicircular canal aplasia: radiologic spectrum and clinical correlations on computed tomography and magnetic resonance imaging
    Nisa Başpınar, Mehmet Atalar, Serdar Aktı +1
    Diagnostic and Interventional RadiologyPeer-reviewedCC BY-NC 4.0Full text1 citedHuman geneticsPMC
  2. Unravelling the mechanisms of clozapine-induced neutropenia in treatment-resistant schizophrenia using cellular genomics
    Y. Yang, T. Edwards, M.-O. Parat +6
    medRxivPreprintCC BY-NC-NDFull textHuman geneticsmedRxiv
  3. Variant Classification of a Non-Protein Coding Gene: ACMG/AMP Specifications for RMRP from the Clinical Genome Resource Severe Combined Immunodeficiency Disease Variant Curation Expert Panel
    V. C. Jacovas, Y. Demirkol, A. Nieto-Patlan +21
    medRxivPreprintAll rights reservedFull textHuman geneticsmedRxiv
  4. Beyond motor rescue: defining adequate SMN restoration in spinal muscular atrophy.
    Crystal Jing Jing Yeo
    The Journal of clinical investigationPeer-reviewedCC BYFull textHuman geneticsEurope PMCPMC
  5. Ancient human genomes reveal farmer-pastoralist interactions in the formation of Iron Age Qin people
    Xirui Wang, Rui Wang, Hao Ma +17
    iSciencePeer-reviewedCC BY-NC 4.0Human geneticsCell PressCrossref
  6. Genotypic-Phenotypic Correlations in Non-HbE β-Thalassemia Intermedia: A Geographic Systematic Review.
    Kavindya Fernando, Shiromi Perera, Anuja Premawardhena
    Molecular genetics & genomic medicinePeer-reviewedCC BYFull textHuman geneticsEurope PMCPMC
  7. Shortened Obinutuzumab Infusion Is Safe and Reduces Chair Time in Frontline Treatment of Chronic Lymphocytic Leukemia: A Real-World Study.
    Dominika Écsiová, Eva Vejražková, Pavel Vodárek +4
    Cancer medicinePeer-reviewedCC BY-NCFull textHuman geneticsEurope PMCPMC
  8. The Role of Genetic Profiling in Pediatric Brain Tumors.
    Ivan K Boronsuzov, Krasimir T Minkin, Petia S Dimova +1
    Balkan medical journalPeer-reviewedCC BY-NC-NDFull textHuman geneticsEurope PMC
  9. The JAK2 V617F revolution in myeloproliferative neoplasms.
    Ayalew Tefferi
    HaematologicaPeer-reviewedCC BY-NCFull textHuman geneticsEurope PMCPMC
  10. Human and zebrafish data corroborate gene x gene interactions in ameliorating Duchenne muscular dystrophy disease progression
    V. J. Vieland, G. T. Lerma, S.-C. Seok +5
    medRxivPreprintAll rights reservedFull textHuman geneticsmedRxiv
  11. Lighting the Future of Neuro-Oncology: Laser Interstitial Thermal Therapy for Brain Tumours
    Eisha Abid Ali, Rahamah Arshad, Ahmad Sohail +3
    Journal of the Pakistan Medical AssociationPeer-reviewedCC BYFull textHuman geneticsDOAJ
  12. Early-Onset Brain Tumor and Lymphoma in MSH2-Deficient Children
    Gaëlle Bougeard, Françoise Charbonnier, Alexandre Moerman +4
    American Journal of Human GeneticsPeer-reviewedLicence not stated90 citedHuman geneticsHAL
  13. Predictors of family quality of life among Omani families of children with sickle cell disease: maternal stress and family structure in a cross-sectional study
    Wafa Al Jabri
    Child Health Nursing ResearchPeer-reviewedCC BY-NC-ND 4.0Full textHuman geneticsPMC
  14. Longitudinal plasma protein profiling in glioblastoma patients using NULISAseq reveals treatment-associated changes across radiation and chemotherapy
    Ashish Kumar, Yangen He, Susy Kim +6
    Journal of Neuro-OncologyPeer-reviewedCC BY 4.0Full textHuman geneticsPMC
  15. Spatial multi-omics of mouse incisor mesenchyme reveals metabolic remodeling during the MSC-to-TAC transition
    Yuling Wang, Zexi Chen, Tingting Chen +14
    International Journal of Oral SciencePeer-reviewedCC BY-NC-ND 4.0Full textHuman geneticsPMC
  16. Genome-wide meta-analysis of pilonidal sinus disease and its genetic overlap with hidradenitis suppurativa, hair patterning and adiposity
    J. V. F. Cavalcante, J. A. de Amorim, R. J. S. Dalmolin
    medRxivPreprintCC BYFull textHuman geneticsmedRxiv
  17. The systemic administration of multipotent mesenchymal stromal cells alters the inflammatory response in the lung during murine polymicrobial sepsis.
    Anna Kanewska, Ina Lackner, Marco Dechant +7
    Cell and tissue researchPeer-reviewedCC BYFull textHuman geneticsEurope PMCPMC
  18. Magnetic resonance imaging-guided laser interstitial thermal therapy for posterior fossa lesions: A systematic review with exploratory single-arm meta-analysis.
    José Eduardo Trejo Elías, Arturo Trejo Elías, Ricardo Trejo Elías +4
    Surgical neurology internationalPeer-reviewedCC BY-NC-SAFull textHuman geneticsEurope PMCPMC
  19. Natural genetic diversity modulates structural stability changes caused by pathogenic variants in small proteins
    T. Niemeijer, M. A. Swertz, K. J. van der Velde
    medRxivPreprintCC BYFull textHuman geneticsmedRxiv
  20. Incorporating tandem repeats improves gene expression prediction models
    M. Lamkin, Y. Li, K. Akamatsu +2
    medRxivPreprintCC BY-NCFull textHuman geneticsmedRxiv
  21. Complete Supernumerary Nostril with Accessory Alar Fistula Reconstructed via Alar Wedge Excision Type 2: A Case Report and Literature Review
    Rizki Ekaputra Handoko, Iriana Maharani, Melody Audria Kurniadi
    The Journal of Laryngology and OtologyPeer-reviewedCC BY 4.0Full textHuman geneticsPMC
  22. Ultra-rare coding variants in schizophrenia risk genes are associated with longitudinal phenotypic differences across psychotic disorders
    Anders Kampe, Julia Sealock, Evan J. Giangrande +19
    medRxivPreprintAll rights reservedFull textHuman geneticsmedRxivPMC
  23. ClinGen Hemoglobinopathy VCEP ACMG/AMP specifications for HBB and HBA2 variant interpretation in thalassemia
    Coralea Stephanou, Irene Fylaktou, Hashim Halim-Fikri +14
    medRxivPreprintCC BY-NC-NDFull textHuman geneticsmedRxivPMC
  24. Treatment of myocardial infarction via sodium alginate microsphere-mediated co-delivery of Corydalis yanhusuo ethanolic extract and mesenchymal stem cells.
    Yuanye Dang, Junjie Cai, Yongxian Li +10
    Chinese medicinePeer-reviewedCC BYFull textHuman geneticsEurope PMCPMC
  25. An Orthotopic Xenograft Model for Preclinical Evaluation of CAR T Cell Therapy in Glioblastoma.
    Julian Hübner, Rhonda McFleder, Chi Wang Ip +4
    Current protocolsPeer-reviewedCC BYFull textHuman geneticsEurope PMCPMC