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 TitleAuthors / EditorsDate
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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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GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects Platzer, Konrad; Yuan, Hongjie; Schütz, Hannah; Winschel, Alexander; ... Lemke, Johannes 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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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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Mutations of DEPDC5 cause autosomal dominant focal epilepsies Ishida, Saeko; Picard, Fabienne; Rudolf, Gabrielle; Noé, Eric; ... Baulac, Stéphanie 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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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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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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Imaging findings in a child with Loeys-Dietz syndrome Dhouib, Amira; Beghetti, Maurice; Didier, Dominique 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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EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants? Lesage, Suzanne; Condroyer, Christel; Klebe, Stephan; Lohmann, Ebba; ... Brice, Alexis 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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Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity Laury, Anna Ray; Bongiovanni, Massimo; Tille, Jean-Christophe; Kozakewich, Harry; Nosé, Vânia 2011
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Analyses of the functional regions of DEAD-box RNA "helicases" with deletion and chimera constructs tested in vivo and in vitro Banroques, Josette; Cordin, Olivier; Doere, Monique; Linder, Patrick; Tanner, N Kyle 2011
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The Ccr4-Not complex interacts with the mRNA export machinery Kerr, Shana C; Azzouz, Nowel; Fuchs, Stephen M; Collart, Martine; ... Laribee, R Nicholas 2011
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A novel exon 3 mutation in a Tunisian patient with Lafora's disease Khiari, H Mrabet; Lesca, G; Malafosse, Alain; Mrabet, A 2011
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Mutations of the orexin system, a regulator of sleep arousal, are not a common cause of ADNFLE. Bouchardy, I; Steinlein, O; Combi, R; Ferini-Strambi, L; ... Picard, Fabienne 2011
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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus Jacquemont, Sébastien 2011
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Ectopic gene expression and organogenesis in Arabidopsis mutants missing BRU1 required for genome maintenance Ohno, Yusuke; Narangajavana, Jarunya; Yamamoto, Akiko; Hattori, Tsukaho; ... Takeda, Shin 2011
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