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741por Diebold, Isabel, Schön, Ulrike, Scharf, Florentine, Benet‐Pagès, Anna, Laner, Andreas, Holinski‐Feder, Elke, Abicht, Angela“…Comparison of the databases ClinVar, Leiden Open‐source Variant Database, and Human Gene Mutation Database showed impactful differences (0.2% to 1.3%) in variant interpretation improvable by expert‐curation depending on database and classification system used. …”
Publicado 2020
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742“…Here, we present a case of a 48-year-old male with a known history of deep venous thrombosis and a known mutation in factor V Leiden combined with mild protein S deficiency, who presented with a painful swelling in the left leg. …”
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743“…CASE PRESENTATION: The patient had a history of deep vein thrombosis in the context of familial thrombophilia with factor V leiden gene mutation in two of his sisters and an inhaled drug addiction to heroïn. …”
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744por Plouffe, Brett, Van Hooren, Tamara, Barton, Michelle, Nashid, Nancy, Demirkaya, Erkan, Norozi, Kambiz, Rachinsky, Irina, Delport, Johan, Knauer, Michael, Tole, Soumitra, Filler, Guido“…An underlying Factor V Leiden mutation was identified in this child but felt to be insufficient on its own to explain his clinical presentation. …”
Publicado 2021
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745por Teshome, Diriba, Mulat, Yordanos, Fenta, Efrem, Hunie, Metages, Kibret, Simegnew, Tamire, Tadese, Fentie, Yewlsew“…Data were collected by Leiden perioperative care patient satisfaction questionnaire (LPPSq) within 24 h postoperatively, after translating to the local language (Amharic). …”
Publicado 2022
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746“…We assessed visual sensitivity in daily life using the Leiden Visual Sensitivity Scale and Visual Discomfort Scale. …”
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747por Bi, Qian, Miao, Zheng, Shen, Jing, Wang, Hao, Kang, Kai, Du, Junjie, Zhang, Fuquan, Fan, Shaoping“…The UK has the strongest partnerships with other countries/regions. Leiden University has the highest number of published articles and University Texas MD Anderson Cancer Center has extensive collaborations with other academic institutions. …”
Publicado 2022
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748por Chen, Yihan, Zhang, Bao, Liu, Tianliang, Chen, Xiaoping, Wang, Yaning, Zhang, Hongbo“…Here, by applying uniform manifold approximation and projection and Leiden algorithms to 2,611 publicly available microarray datasets of renal transplantation, we uncovered six rejection states with corresponding signature genes and revealed a high-risk (HR) state that was essential in promoting allograft loss. …”
Publicado 2022
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749por Farrukh, Larabe, Rosenberg, Lisa, Waqar, Hafiza H, Tehzeeb, Javaria, Akhtar, Muhammad F, Chaukiyal, Pooja“…Our patient is a male in his 40s with a past medical history of sickle cell trait, factor V Leiden mutation, marginal zone B-cell lymphoma, gastric mucosa-associated lymphoid tissue (MALT) lymphoma, and sarcoidosis who presented with the complaint of hemoptysis, dyspnea, abdominal pain, arthralgias, peripheral edema of the lower extremities with petechial rash, and oliguria. …”
Publicado 2022
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750por Pastori, Daniele, Cormaci, Vito Maria, Marucci, Silvia, Franchino, Giovanni, Del Sole, Francesco, Capozza, Alessandro, Fallarino, Alessia, Corso, Chiara, Valeriani, Emanuele, Menichelli, Danilo, Pignatelli, Pasquale“…Herewith, we provide a comprehensive review of the most common risk factors for VTE, including male sex, diabetes, obesity, smoking, Factor V Leiden, Prothrombin G20210A Gene Mutation, Plasminogen Activator Inhibitor-1, oral contraceptives and hormonal replacement, long-haul flight, residual venous thrombosis, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, trauma and fractures, pregnancy, immobilization, antiphospholipid syndrome, surgery and cancer. …”
Publicado 2023
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751Publicado 2023“…Annemieke Aartsma-Rus is a Professor of Translational Genetics at the Leiden University Medical Center. She was one of the pioneers of antisense oligonucleotide (ASO)-mediated exon skipping therapy for Duchenne muscular dystrophy (DMD). …”
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752por Nemeth, Banne, van Adrichem, Raymond A., van Hylckama Vlieg, Astrid, Bucciarelli, Paolo, Martinelli, Ida, Baglin, Trevor, Rosendaal, Frits R., le Cessie, Saskia, Cannegieter, Suzanne C.“…The clinical model was converted into a risk score, the L-TRiP(cast) score (Leiden–Thrombosis Risk Prediction for patients with cast immobilization score), which showed an AUC of 0.76 (95% CI 0.66–0.86). …”
Publicado 2015
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753Libro
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754por Catani, Linda, Manachini, Barbara, Grassi, Eleonora, Guidi, Loretta, Semprucci, Federica“…This study provides an overview of the available reports and data to date, downloaded from Scopus, through (a) network maps created by VOSviewer software (version 1.6.8, Nees Jan van Eck and Ludo Waltman, Leiden, The Netherlands) and (b) a systematic analysis of all scientific papers. …”
Publicado 2023
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755“…Jeroen did hid PhD with Herman Spaink at Leiden University, The Netherlands. A short visit to Massachusetts Institute of Technology during his doctoral training introduced him to the zebrafish model, which he applied to his PhD project. …”
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757por Gelmi, Maria Chiara, Verdijk, Robert M., Houtzagers, Laurien E., van der Velden, Pieter A., Kroes, Wilma G. M., Luyten, Gregorius P. M., Vu, T. H. Khanh, Jager, Martine J.“…We explored the role of MITF in Uveal Melanoma (UM) using a cohort of 64 patients enucleated at the Leiden University Medical Center. We analysed the relation between MITF expression and clinical, histopathological and genetic features of UM, as well as survival. …”
Publicado 2023
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758“…He is portrayed as an outstanding eighteenth century educator who introduced into Leiden’s Medical School a novel method of clinical teaching that was to be widely adopted and today remains at the centre of medical student instruction. …”
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759por Hosseini, Rohola, Vlasveld, Matthijs, Willemse, Joost, van de Water, Bob, Le Dévédec, Sylvia E., Wolstencroft, Katherine J.“…We show the utility of MIHCSME for HCS data using multiple examples from the Leiden FAIR Cell Observatory, a Euro-Bioimaging flagship node for high content screening and the pilot node for implementing Findable, Accessible, Interoperable and Reusable (FAIR) bioimaging data throughout the Netherlands Bioimaging network.…”
Publicado 2023
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760por Akgül, Ahsen Karagözlü, Uçar, Murat, Ozcakir, Esra, Balkan, Emin, Kılıç, Nizamettin“…The etiological factors were sickle cell disease, hemodialysis due to chronic renal failure, and factor V Leiden mutation in three patients. Detumescence was achieved in one patient at Step 2, in two patients at Steps 3, 4, and 5, respectively. …”
Publicado 2022
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