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Induced pluripotent stem cells to understand mucopolysaccharidosis. i: demonstration of a migration defect in neural precursors Lito, Silvin; Sidibe, Adama; Ilmjarv, Sten; Burda, Patricie; ... Marteyn, Antoine 2020
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Transient PAX8 Expression in Islets During Pregnancy Correlates With β-Cell Survival, Revealing a Novel Candidate Gene in Gestational Diabetes Mellitus Martin-Montalvo, Alejandro; López-Noriega, Livia; Jiménez-Moreno, Carmen; Herranz, Amanda; ... Gauthier, Benoit R 2019
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Diffuse high-grade gliomas with H3 K27M mutations carry a dismal prognosis independent of tumor location Karremann, Michael; Gielen, Gerrit H; Hoffmann, Marion; Wiese, Maria; ... Kramm, Christof M 2018
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Mutational epidemiology of congenital fibrinogen disorders Casini, Alessandro; Blondon, Marc; Tintillier, Veronique; Goodyer, Matthew; ... Neerman Arbez, Marguerite 2018
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Do Factor V Leiden and Prothrombin G20210A Mutations Predict Recurrent Venous Thromboembolism in Older Patients? Méan, Marie; Limacher, Andreas; Stalder, Odile; Angelillo-Scherrer, Anne; ... Aujesky, Drahomir 2017
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Structure and function of the PiuA and PirA siderophore-drug receptors from pseudomonas aeruginosa and acinetobacter baumannii Moynié, Lucile; Luscher, Alexandre; Rolo, Dora; Pletzer, Daniel; ... Kohler, Thilo 2017
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GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects Ranza, Emmanuelle Nathalie; Korff, Christian 2017
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A Light Harvesting Complex-Like Protein in Maintenance of Photosynthetic Components in Chlamydomonas Zhao, Lei; Cheng, Dongmei; Huang, Xiahe; Chen, Mei; ... Huang, Fang 2017
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Dynamics of BAF-Polycomb complex opposition on heterochromatin in normal and oncogenic states Kadoch, Cigall; Williams, Robert T; Calarco, Joseph P; Miller, Erik L; ... Crabtree, Gerald R 2017
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BMPR2 mutation is a potential predisposing genetic risk factor for congenital heart disease associated pulmonary vascular disease Liu, Dong; Liu, Qian-Qian; Guan, Li-Hua; Jiang, Xin; ... Jing, Zhi-Cheng 2016
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A novel recessive RPGRIP1 mutation causing leber congenital amaurosis Abouzeid, Hana; Othman, I S; Schorderet, D F 2016
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Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis Rohrer, Jonathan D; Frisoni, Giovanni 2015
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Abnormal junctions and permeability of myelin in PMP22-deficient nerves Guo, Jiasong; Wang, Leiming; Zhang, Yang; Wu, Jiawen; ... Li, Jun 2014
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Lack of recognition of HLA class I mismatches outside α1/α2 domains by CD8+ alloreactive T lymphocytes: the HLA-B44 paradigm Bettens, F; Schanz, U; Tiercy, Jean-Marie 2013
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Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers Weckhuysen, Sarah; Holmgren, Philip; Hendrickx, Rik; Jansen, Anna C; ... Suls, Arvid 2013
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Mutations of DEPDC5 cause autosomal dominant focal epilepsies Ishida, Saeko; Picard, Fabienne; Rudolf, Gabrielle; Noé, Eric; ... Baulac, Stéphanie 2013
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Imaging findings in a child with Loeys-Dietz syndrome Dhouib, Amira; Beghetti, Maurice; Didier, Dominique 2012
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KRAS status and outcome of liver resection after neoadjuvant chemotherapy including bevacizumab (Br J Surg 2012; 99: 1575-1582) Mentha, Gilles 2012
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PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population Méneret, Aurélie; Grabli, David; Depienne, Christel; Gaudebout, Cécile; ... Roze, Emmanuel 2012
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Loss of DNA methylation affects the recombination landscape in Arabidopsis Mirouze, Marie; Lieberman Lazarovich, Michal; Aversano, Riccardo; Bucher, Etienne; ... Paszkowski, Jerzy 2012
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