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Human genetics

961 studies23 in 7 days555 in 30 days

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961 studies

  1. ALFA-TALASSEMIA E LIMITAÇÕES DO NGS: RELATO DE CASO COM IMPACTO NA ESTRATÉGIA DIAGNÓSTICA MOLECULAR
    Thalita Brito Dantas CAVICCHIOLI, Tarcísio Silva BORBOREMA, Carla Emilia Silveira CHAVES +1
    Hematology, Transfusion and Cell TherapyPeer-reviewedCC BYFull textHuman geneticsDOAJ
  2. DESFECHOS CLÍNICOS NA ANEMIA FALCIFORME: EXPERIÊNCIA DE UM HOSPITAL UNIVERSITÁRIO
    Laura CELESTINO, Gabriel BIZARRO, Laíza SOUZA +5
    Hematology, Transfusion and Cell TherapyPeer-reviewedCC BYFull textHuman geneticsDOAJ
  3. ANÁLISE DE SOBREVIDA CONFORME O REGIME DE TRATAMENTO EM PRIMEIRA E SEGUNDA LINHA PARA LEUCEMIA LINFOCÍTICA CRÔNICA EM SERVIÇO DE REFERÊNCIA DO SUS
    Bruna Luize Souza de OLIVEIRA, Lucas Frigo ROOS, Tatiana Lepka SZEREMETA +7
    Hematology, Transfusion and Cell TherapyPeer-reviewedCC BYFull textHuman geneticsDOAJ
  4. RESPOSTA HEMATOLÓGICA AO VOXELOTOR E RECRUDESCIMENTO DA HEMÓLISE APÓS SUA SUSPENSÃO EM PACIENTE COM ANEMIA FALCIFORME E ALFA-TALASSEMIA: RELATO DE CASO
    Renan Ataíde ANDRADE, Maria José De Farias RAMOS, Luana De Avila Bello FARIA +7
    Hematology, Transfusion and Cell TherapyPeer-reviewedCC BYFull textHuman geneticsDOAJ
  5. PERFIL IMUNO-HEMATOLÓGICO DOS PACIENTES COM HEMOGLOBINOPATIAS ATENDIDOS NA FUNDAÇÃO DE HEMATOLOGIA E HEMOTERAPIA DE PERNAMBUCO NO PERÍODO DE 2021 A 2024
    Maria Carollayne Gonçalves LEITE, Patrícia Areias Feitosa NEVES, Catarina Paula da Silva RAMOS +6
    Hematology, Transfusion and Cell TherapyPeer-reviewedCC BYFull textHuman geneticsDOAJ
  6. HEMOGLOBINA E/Β-TALASSEMIA EM IMIGRANTE FILIPINO: RELATO DE CASO
    Maria Luiza Ruiz CARRASCOSA, Ana Carolina Paula SCOMBATI, Lorrayne Baltazar MACHADO +3
    Hematology, Transfusion and Cell TherapyPeer-reviewedCC BYFull textHuman geneticsDOAJ
  7. O PAPEL DA FISIOTERAPIA NA DOENÇA FALCIFORME
    Glenda FELDBERG, Fábio GALVÃO, Sara Teresinha Olalla SAAD
    Hematology, Transfusion and Cell TherapyPeer-reviewedCC BYFull textHuman geneticsDOAJ
  8. SELF-REPORTED RACE EXPLAINS ONE-THIRD OF THE VARIABILITY IN AFRICAN GENETIC ANCESTRY AMONG BRAZILIAN PATIENTS WITH SICKLE CELL DISEASE
    Isabel Cristina Gomes MOURA, Carla Luana DINARDO, Mina Cintho OZAHATA +9
    Hematology, Transfusion and Cell TherapyPeer-reviewedCC BYFull textHuman geneticsDOAJ
  9. ASSOCIAÇÃO DE VARIANTES NO GENE ANTXR1 COM PARÂMETROS CLÍNICOS E LABORATORIAIS EM PACIENTES COM ANEMIA FALCIFORME
    Amanda Bezerra de Sá ARAÚJO, Gabriela Da Silva ARCANJO, João Victor De Souza RODRIGUES +7
    Hematology, Transfusion and Cell TherapyPeer-reviewedCC BYFull textHuman geneticsDOAJ
  10. IMPACTO DO USO DO SEQUENCIAMENTO DE NOVA GERAÇÃO NA ESTRATIFICAÇÃO E INDICAÇÃO DE TRANSPLANTE ALOGÊNICO DE MEDULA ÓSSEA EM PACIENTES COM MIELOFIBROSE EM UM HOSPITAL UNIVERSITÁRIO NO SISTEMA ÚNICO DE SAÚDE
    Camila Gonçalves PESSANHA, Carlos Murilo Barbosa JUNIOR, Cristiana SOLZA +9
    Hematology, Transfusion and Cell TherapyPeer-reviewedCC BYFull textHuman geneticsDOAJ
  11. A family-aware All of Us benchmark for polygenic prediction and genomic machine learning
    G. Ren, K. Wu, C. Ren +3
    medRxivPreprintCC BY-NCFull textHuman geneticsmedRxiv
  12. Rare Genetic Mechanisms in Dyggve-Melchior-Clausen Disease
    Prince Jacob, Lingjuan Hong, Deepa Bhat +6
    medRxivPreprintCC BYFull textHuman geneticsmedRxivPMC
  13. The genetic, clinical and immune landscape of clonal hematopoiesis across adulthood in the multi-ancestry Mount Sinai Million cohort
    Myvizhi Esai Selvan, Namira Ashraf, Rujula Pradeep +8
    medRxivPreprintCC BY-NC-NDFull textHuman geneticsmedRxivPMC
  14. A Polygenic Score for Smoking Persistence Captures Differences in Cessation Age
    Ariya Chaloemtoem, Yoonhoo Chang, Louis Fox +15
    medRxivPreprintAll rights reservedFull textHuman geneticsmedRxivPMC
  15. Incompletely penetrant protein-truncating variants confer developmental disorder risk through partial reductions in gene expression
    J. E. Hampstead, E. Delage, G. Khazeeva +13
    medRxivPreprintPublic domainFull textHuman geneticsmedRxiv
  16. SNX13 and SNX14 interorganelle tethers suppress lysosome membrane damage and neurodegeneration
    K. Gov, V. B. Sanchez, E. Reynolds +26
    medRxivPreprintAll rights reservedFull textHuman geneticsmedRxivPMC
  17. DNA methylation profiling reveals novel rhabdomyosarcoma subsets with distinct histologic, genetic and clinical properties
    W. Sun, J. Lopez-Nava, J. F. Shern +9
    medRxivPreprintCC BYFull textHuman geneticsmedRxivPMC
  18. Cytotoxic activity of selinexor in BRAFV600E-driven pediatric low-grade glioma 3D cultures.
    Constantia Zeiser, Marta Emperador, Sonja Herter +19
    Acta neuropathologica communicationsPeer-reviewedCC BYFull textHuman geneticsEurope PMCDOAJ
  19. Clinical and Haematologic Correlates of Soluble VCAM-1 in Adults With Steady-State Sickle Cell Disease.
    William Kwesi Ghunney, Eugenia Vicky Asare, John Benaiah Ayete-Nyampong +5
    EJHaemPeer-reviewedCC BYFull textHuman geneticsEurope PMC
  20. Advances in Single-Cell and Spatial Omics for Glioblastoma Precision Medicine.
    Liya Prakash, Ruman Rahman
    Current oncology reportsPeer-reviewedCC BYFull textHuman geneticsEurope PMC
  21. Urgent versus scheduled resection in high-grade glioma: patient selection and healthcare utilization in a single-center cohort.
    Danny A Mahmoudi, Trent Kite, Eric Singh +9
    Journal of neuro-oncologyPeer-reviewedCC BYFull textHuman geneticsEurope PMC
  22. Firstline treatment with ruxolitinib versus best available therapy in patients with polycythemia vera: results from the randomized RuxoBEAT trial
    Steffen Koschmieder, Susanne Isfort, Lino L. Teichmann +24
    Blood cancer journalPeer-reviewedCC BYFull textHuman geneticsEurope PMCDOAJ
  23. Do Glioblastoma Cancer Cells Need Vitamins? The Role of Vitamin B1
    Jan Korbecki, Mateusz Bosiacki, Patrycja Kupnicka +7
    CancersPeer-reviewedCC BY 4.0Human geneticsCrossref
  24. Efficacy and safety of bronchial artery embolization in the treatment of hemoptysis:a systematic review and meta-analysis of RCTs
    Minhui Zhang, Junchen Wang, Yunyun Shuai +5
    Frontiers in MedicinePeer-reviewedCC BY 4.0Full textHuman geneticsPMC
  25. Therapeutic potential of umbilical cord-derived MSCs in arthritis: Insights from preclinical and clinical studies
    David Lawrence Greene, Umm E Habiba, Roshini Sathyanarayanan +2
    Regenerative TherapyPeer-reviewedCC BY-NC-NDFull textHuman geneticsDOAJEurope PMCEurope PMCPMC