Mutation of von Hippel–Lindau Tumour Suppressor and Human Cardiopulmonary Physiology
Thomas G Smith, Jerome T Brooks, George M Balanos et al. · PLoS Medicine · 2006
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The ruxolitinib effect: understanding how molecular pathogenesis and epigenetic dysregulation impact therapeutic efficacy in myeloproliferative neoplasms
Graeme Greenfield, Suzanne McPherson, Ken Mills et al. · Journal of Translational Medicine · 2018
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Low altitude return ameliorates semen parameters after high altitude exposure
Heitham M Mohammed · Journal of Family Medicine and Primary Care · 2022
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AAV-mediated gene therapies for glaucoma and uveitis: are we there yet?
Brenda Castro, Jason C. Steel, Christopher J. Layton · Expert Reviews in Molecular Medicine · 2024
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Identification of an p.Gly292fs Frameshift Mutation Presenting as Diabetes During Pregnancy in a Maltese Family
Nikolai Paul Pace, Christopher Rizzo, Alexia Abela et al. · Clinical Medicine Insights: Case Reports · 2019
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A Case of Hairy Cell Leukemia Diagnosed by Leukocyoclastic Vasculitis Symptoms
Ezel Elgun, Belkis Nihan Coskun, Fahir Özkalemkaş et al. · Turkish Journal of Internal Medicine · 2021
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DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data
Jiaqi Liu, Hengqiang Zhao, Yu Zheng et al. · Genome Medicine · 2022
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A positive faecal immunochemical test result and its association with the incidence of rheumatoid arthritis, systemic lupus erythematosus, and psoriatic arthritis: an analysis of one-million national colorectal cancer screening programme results
Choong-Kyun Noh, Eunyoung Lee, Bumhee Park et al. · BMC Medicine · 2022
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A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase
Song Sun, Jochen Weile, Marta Verby et al. · Genome Medicine · 2020
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Donor-Derived Brain Tumor Following Neural Stem Cell Transplantation in an Ataxia Telangiectasia Patient
Ninette Amariglio, Abraham Hirshberg, Bernd W Scheithauer et al. · PLoS Medicine · 2009 · Case report
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Effect of SYTL3-SLC22A3 Variants, Their Haplotypes, and G × E Interactions on Serum Lipid Levels and the Risk of Coronary Artery Disease and Ischaemic Stroke
Peng-Fei Zheng, Rui-Xing Yin, Xiao-Li Cao et al. · Frontiers in Cardiovascular Medicine · 2021
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Novel AAV capsids for intravitreal gene therapy of photoreceptor disorders
Marina Pavlou, Christian Schön, Laurence M Occelli et al. · EMBO Molecular Medicine · 2021
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High-Output Heart Failure Contributing to Recurrent Epistaxis Kiesselbach Area Syndrome in a Patient With Hereditary Hemorrhagic Telangiectasia
Venugopal Brijmohan Bhattad MD, Jennifer N. Bowman BA, Hemang B. Panchal MD, MPH et al. · Journal of Investigative Medicine High Impact Case Reports · 2017
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MiR‐122 modification enhances the therapeutic efficacy of adipose tissue‐derived mesenchymal stem cells against liver fibrosis
Guohua Lou, Ying Yang, Feifei Liu et al. · Journal of Cellular and Molecular Medicine · 2017
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Portal Vein Thrombosis Secondary to Occult Polycythemia Vera
Antón FR Gameiro, António Robalo Nunes, Paula Guerra et al. · European Journal of Case Reports in Internal Medicine · 2020
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Rare and common genetic determinants of metabolic individuality and their effects on human health
Praveen Surendran, Isobel D. Stewart, Victoria P. W. Au Yeung et al. · Nature Medicine · 2022
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A new ENG mutation in a Japanese family with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations
Keiki Yokoo, Gen Yamada, Hirofumi Chiba et al. · Respiratory Medicine Case Reports · 2018
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Ten‐year follow‐up of Nicolaides–Baraitser syndrome with a de novo mutation and analysis of 58 gene loci of SMARCA2‐associated NCBRS
Xilian Zhang, Hanjiang Chen, Ying Song et al. · Molecular Genetics & Genomic Medicine · 2022
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Identification of Colored Dyes that are Resistant to Fading on Exposure to Ethylene Oxide; Use with Indicating FTA™ Sample Collection Cards
Nina Moran, Peter James Tatnell · Journal of Forensic Science and Medicine · 2016
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Kidney transplant tolerance associated with remote autologous mesenchymal stromal cell administration
Federica Casiraghi, Norberto Perico, Eliana Gotti et al. · Stem Cells Translational Medicine · 2020
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