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Human genetics

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961 studies

  1. [Chronic lymphocytic leukemia presenting initially as purpura nephritis: a case report].
    M W Tong, W X Nong, D Q Zhang +1
    Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhiPeer-reviewedCC BYFull textHuman geneticsEurope PMC
  2. A Retrospective Study of the Efficacy and Safety of Epcoritamab in Real-world Clinical Practice: An Analysis of 19 Cases from a Single Institution
    Yasunobu Sekiguchi, Shizuka Hamano, Kosuke Arai +16
    Internal MedicinePeer-reviewedCC BY-NC-NDFull textHuman geneticsJ-STAGE
  3. Pre-stenting Bronchial Artery Embolization for Bronchial Hemorrhagic Tumor
    Keisuke Shiraha, Ken Sato, Yuki Takigawa +1
    Internal MedicinePeer-reviewedCC BY-NC-NDFull textHuman geneticsJ-STAGE
  4. Clinical and genetic landscapes of mucopolysaccharidosis type III in 20 Chinese patients
    Xueying Su, Yijing Zhang, Xiaoyuan Zhao +3
    Orphanet Journal of Rare DiseasesPeer-reviewedCC BY 4.0Full textHuman geneticsPMC
  5. The effectiveness and safety of mesenchymal stromal/stem cell therapy for acute respiratory distress syndrome: an umbrella review.
    Wenchi Li, Feifei Wang, Yiqing Lin +3
    Stem cell research & therapyPeer-reviewedCC BY-NC-NDFull textHuman geneticsEurope PMCPMC
  6. Factors associated with complications among children and adolescents with sickle cell disease in a tertiary hospital in southwestern Nigeria
    Yetunde Toyin Olasinde, Olayinka Rasheed Ibrahim, Abimbola Ololade Odeyemi +4
    BMC PediatricsPeer-reviewedCC BY-NC-ND 4.0Full textHuman geneticsPMC
  7. VIT-2763, a ferroportin-1 inhibitor, modulates osteoblast and osteoclast functions in hemizygous βIVSII-654 knock-in thalassemic mice with osteopenia
    Ratchaneevan Aeimlapa, Jarinthorn Teerapornpuntakit, Jirawan Thongbunchoo +4
    Cell Death DiscoveryPeer-reviewedCC BY 4.0Full textHuman geneticsPMC
  8. Albuminuria and associated renal and hemodynamic factors in adults with steady-state sickle cell disease: a multicenter study with measured GFR.
    Yannick Mompango Engole, Justine Busanga Bukabau, Yannick Mayamba Nlandu +13
    BMC nephrologyPeer-reviewedCC BY-NC-NDFull textHuman geneticsEurope PMCPMC
  9. Correlation of Epstein–Barr virus (EBV) expressed miRNAs (BART4, BART7, and BHRF1) with chronic lymphocytic leukemia stages
    Zahra Keyvanlou, Mehrdad Ravanshad, Saeid Amel Jamehdar +1
    Infectious Agents and CancerPeer-reviewedCC BY-NC-ND 4.0Full textHuman geneticsPMC
  10. Three repeated intrathecal injections of allogenic umbilical cord-derived mesenchymal stromal cells in autism spectrum disorder: a Phase I clinical trial.
    Elaheh Khodadoust, Hadi Zarafshan, Masoumeh Nouri +14
    Stem cell research & therapyPeer-reviewedCC BY-NC-NDFull textHuman geneticsEurope PMCPMC
  11. Genetic and clinical phenotype analysis of a case of high-molecular-weight kininogen deficiency caused by a frameshift mutation c.628_629delAA in the KNG1 gene
    Fengjiao Wang, Haixiao Xie, Xingxing Zhou +3
    Annals of HematologyPeer-reviewedCC BY-NC-ND 4.0Full text1 citedHuman geneticsPMC
  12. CHARGE Syndrome: What an Otolaryngologist Should Know—A Systematic Review and Meta‐Analysis
    Camille Caron, Massil Badji, Camille Prigent +3
    Otolaryngology--Head and Neck SurgeryPeer-reviewedCC BY-NC-ND 4.0Full textHuman geneticsPMC
  13. Genomic atlas of cardiac and adiposity imaging phenotypes
    H. M. Tsao, L. Smith, A. Richard +10
    medRxivPreprintCC BY-NDFull textHuman geneticsmedRxiv
  14. Tissue-reactive zonation of mesenchymal-like phenotypes in human glioblastoma
    Alejandro Mossi Albiach, Jokubas Janusauskas, Jesper Kjaer Jacobsen +16
    MedPeer-reviewedCC BY29 citedHuman geneticsOncologyOpenAlex
  15. Multiparametric MRI with DWI, SWI, and DSC-PWI for preoperative prediction of Ki-67, IDH, and ATRX in adult-type diffuse gliomas.
    Muhammet Arif Kursun, Begumhan Baysal, Gulnihal Ay +2
    BMC medical imagingPeer-reviewedCC BY-NC-NDFull textHuman geneticsEurope PMC
  16. Quality of life and burden of caregivers of patients with alpha-mannosidosis: an international survey
    Julia B. Hennermann, Nathalie Guffon, Sophie Thomas +13
    Orphanet Journal of Rare DiseasesPeer-reviewedCC BY 4.0Full textHuman geneticsPMC
  17. WITHDRAWN: Heterozygous germline MSH3 mutations, and probably MLH3 mutations, act as classical tumour suppressors, leading to excess somatic deletion mutations, signature ID4 and increased colorectal cancer risk
    I. Soriano, K. Sherwood, J. C. Ward +10
    medRxivPreprintCC BY-NC-NDFull textHuman geneticsmedRxiv
  18. Hemorrhagic Transformation after Ischemic Stroke in a Case of Essential Thrombocythemia with Hyperfibrinolysis on Thromboelastography
    Daisuke Kudo, Kotaro Noda, Motohiro Suzuki +1
    Internal MedicinePeer-reviewedCC BY-NC-NDFull textHuman geneticsJ-STAGE
  19. Unveiling ocular developmental disorders through short-read whole-genome sequencing
    Bertrand Chesneau, Timotéo Cousteix, Abdelhakim Bouazzaoui +15
    European Journal of Human GeneticsPeer-reviewedCC BYFull textHuman geneticsHAL
  20. Bilateral Rasmussen’s Aneurysms: A Rare Etiology of Hemoptysis
    Tarun Gupta, Ritesh Kumar Sahu, Garv Chhabra
    Annals of African MedicinePeer-reviewedCC BY-NC-SA 4.0Full textHuman geneticsPMC
  21. Age-associated niche remodeling drives dental pulp progenitor dysfunction and fibrosis
    Xiaoyi Yu, Tianmeng Sun, Mengyu Xu +5
    Communications BiologyPeer-reviewedCC BY-NC-ND 4.0Full textHuman geneticsPMC
  22. Disorder-specific and shared genetic architecture underlying schizophrenia and bipolar disorder
    U. Bhattacharyya, J. John, M. Preuss +2
    medRxivPreprintCC BY-NC-NDFull textHuman geneticsmedRxiv
  23. Acute Kidney Injury Due to Granulomatous Interstitial Nephritis as the Initial Presentation of CLL/SLL Treated with Acalabrutinib
    Asuka Shibamiya, Chikako Ohwada, Akane Tanaka +5
    Internal MedicinePeer-reviewedCC BY-NC-NDFull textHuman geneticsJ-STAGE
  24. Hijacking of neural circuits by malignant glioma: mechanistic insights and clinical implications
    Eduarda P. Martins, Helena M. Figueiredo, Nuno Sousa +1
    Journal of the National Cancer CenterPeer-reviewedCC BY 4.0Full text1 citedHuman geneticsDOAJPMC
  25. Multi-omics characterization of IDH-mutant astrocytoma-derived cell lines reveals NOTCH-regulated plastic quiescent astrocyte-like state and insights into progression
    Leonor Garcia, Christine Granotier-Beckers, Donovan Pineau +25
    Acta Neuropathologica CommunicationsPeer-reviewedCC BYFull textHuman geneticsDOAJ