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 TitleAuthors / EditorsDate
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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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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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GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects Ranza, Emmanuelle Nathalie; Korff, Christian 2017
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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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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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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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Imaging findings in a child with Loeys-Dietz syndrome Dhouib, Amira; Beghetti, Maurice; Didier, Dominique 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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Two different fibrinogen gene mutations associated with bleeding in the same family (A αGly13Glu and γGly16Ser) and their impact on fibrin clot properties: fibrinogen Krakow II and Krakow III. Pietrys, Danuta; Balwierz, Walentyna; Iwaniec, Teresa; Vorjohann, Silja; ... Undas, Anetta 2011
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Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome Schaller, André; Hahn, Dagmar; Jackson, Christopher B; Kern, Ilse; ... Nuoffer, Jean-Marc 2011
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Marked hemiatrophy in carriers of Duchenne muscular dystrophy Rajakulendran, Sanjeev; Kuntzer, Thierry; Dunand, Murielle; Yau, Shu C.; ... Hanna, Michael G. 2010
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Negative feedback regulation of UV-B-induced photomorphogenesis and stress acclimation in Arabidopsis Gruber, Henriette; Heijde, Marc; Heller, Werner; Albert, Andreas; ... Ulm, Roman 2010
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Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans Lesage, Suzanne; Patin, Etienne; Condroyer, Christel; Leutenegger, Anne-Louise; ... Brice, Alexis 2010
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A map of human genome variation from population-scale sequencing 1000 Genomes Project Consortium 2010
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Rhinovirus genome evolution during experimental human infection Cordey, Samuel; Junier, Thomas; Gerlach, Daniel; Gobbini, Francesca; ... Kaiser, Laurent 2010
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Functional interactions between sphingolipids and sterols in biological membranes regulating cell physiology Guan, Xue Li; Souza, Cleiton; Pichler, Harald; Dewhurst, Gisele; ... Riezman, Howard 2009
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Neuropsychological disturbances in frontal lobe epilepsy due to mutated nicotinic receptors Picard, Fabienne; Pegna, Alan; Arntsberg, Venke; Lucas, Nadia; ... Brodtkorb, Eylert 2009
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Selective up-regulation of intact, but not defective env RNAs of endogenous modified polytropic retrovirus by the Sgp3 locus of lupus-prone mice Yoshinobu, Kumiko; Baudino, Lucie Clementine; Santiago-Raber, Marie-Laure; Morito, Naoki; ... Izui, Shozo 2009
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A multitracer dopaminergic PET study of young-onset parkinsonian patients with and without parkin gene mutations Ribeiro, Maria-Joao; Thobois, Stéphane; Lohmann, Ebba; du Montcel, S. T.; ... Remy, P. 2009
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Cooperation and virulence of clinical Pseudomonas aeruginosa populations Kohler, Thilo; Buckling, Angus; Van Delden, Christian 2009
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Genetic and biochemical analysis of yeast and human cap trimethylguanosine synthase: functional overlap of 2,2,7-trimethylguanosine caps, small nuclear ribonucleoprotein components, pre-mRNA splicing factors, and RNA decay pathways Hausmann, Stéphane; Zheng, Sushuang; Costanzo, Michael; Brost, Renee L.; ... Schwer, Beate 2008
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Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations Schwabe, Georg C.; Hoffmann, Katrin; Loges, Niki Tomas; Birker, Daniel; ... Bartoloni, Lucia 2008
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Modulation of Ubc4p/Ubc5p-mediated stress responses by the RING-finger-dependent ubiquitin-protein ligase Not4p in Saccharomyces cerevisiae Mulder, Klaas W; Inagaki, Akiko; Cameroni, Elisabetta; Mousson, Florence; ... Timmers, H Th Marc 2007
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Expanding the phenotype of fragile X-associated tremor/ataxia syndrome: a new female case Horvath, Judit; Burkhard, Pierre; Morris, Michael Andréw; Bottani, Armand; ... Delavelle, Jacqueline 2007
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NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects Lu, Weining; Quintero-Rivera, Fabiola; Fan, Yanli; Alkuraya, Fowzan S; ... Maas, Richard L 2007
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ATAB2 is a novel factor in the signalling pathway of light-controlled synthesis of photosystem proteins Barneche, Frédy; Winter, Veronika; Crèvecoeur, Michèle; Rochaix, Jean-David 2006
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A Phg2-Adrm1 pathway participates in the nutrient-controlled developmental response in Dictyostelium Cherix, Nathalie; Froquet, Romain Bruno; Charette, Steve; Blanc, Cédric; ... Cosson, Pierre 2006
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Identification of low frequency knockout mutants in Dictyostelium discoideum created by single or double homologous recombination Charette, Steve; Cornillon, Sophie Marie; Cosson, Pierre 2006
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In vitro and in vivo activity of SKI-606, a novel Src-Abl inhibitor, against imatinib-resistant Bcr-Abl+ neoplastic cells Puttini, Miriam; Coluccia, Addolorata Maria Luce; Boschelli, Frank; Cleris, Loredana; ... Gambacorti-Passerini, Carlo 2006
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Aberrant expression of BARD1 in breast and ovarian cancers with poor prognosis Wu, J. Y.; Vlastos, A. T.; Pelte, Marie-Françoise; Caligo, M. A.; ... Irminger-Finger, Irmgard 2006
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ATM alterations in childhood non-Hodgkin lymphoma Gumy Pause, Fabienne; Wacker, Pierre; Maillet, Philippe; Betts, David R; Sappino, Pascal 2006
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Evidence for serpinB2-independent protection from TNF-alpha-induced apoptosis Fish, Richard; Kruithof, Egbert 2006
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Perinuclear Mlp proteins downregulate gene expression in response to a defect in mRNA export Vinciguerra, Patrizia; Iglesias, Nahid; Camblong, Jurgi; Zenklusen, Daniel; Stutz, Françoise 2005
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SPBP is a phosphoserine-specific repressor of estrogen receptor alpha Gburcik, Valentina; Bot, Nathalie; Maggiolini, Marcello; Picard, Didier 2005
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Consistency of genome-based methods in measuring Metazoan evolution Zdobnov, Evgeny; von Mering, Christian; Letunic, Ivica; Bork, Peer 2005
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Intensive therapy with ceftobiprole medocaril of experimental foreign-body infection by methicillin-resistant Staphylococcus aureus Vaudaux, Pierre; Gjinovci, Asllan; Bento, Manuela; Li, Dongmei; ... Lew, Daniel Pablo 2005
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