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 TitleAuthors / EditorsDate
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Fibrin(ogen) in human disease: both friend and foe Ferreira Vilar Da Silva, Rui Filipe; Fish, Richard; Casini, Alessandro; Neerman Arbez, Marguerite 2020
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Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase Luczkowska, Karolina; Stekelenburg, Caroline; Sloan Bena, Frédérique; Ranza, Emmanuelle Nathalie; ... Maechler, Pierre 2020
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Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms Huin, Vincent; Barbier, Mathieu; Bottani, Armand; Lobrinus, Johannes Alexander; ... Le Ber, Isabelle 2020
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Steroid profile analysis by LC-HRMS in human seminal fluid Olesti, Eulalia; Garcia, Arnaud; Rahban, Rita; Rossier, Michel; ... Rudaz, Serge 2020
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Goal-Directed-Behavior in 22q11.2 Deletion Syndrome: Implication for Social Dysfunctions and the Emergence of Negative Symptoms Dubourg, Lydia; Maeder, Johanna; Pouillard, Virginie; Eliez, Stéphan; Schneider, Maude 2020
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LARS2-Perrault syndrome: a new case report and literature review Carminho Amaro Rodrigues, Maria Teresa; Klee, Philippe; Laurent, Sacha; Guipponi, Michel; ... Giacobino, Ariane 2020
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Case report: a 58 -year -old man with small kidneys and elevated liver enzymes Dash, Jonathan; Saudan, Patrick; Giacobino, Ariane; Moll, Solange; De Seigneux Matthey, Sophie 2020
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Triméthylaminurie : un cas pas forcément si rare Pedrazzoli, Damien; Giacobino, Ariane 2020
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Pituitary dysmaturation affects psychopathology and neurodevelopment in 22q11.2 Deletion Syndrome Sandini, Corrado; Chambaz, Maëlle; Schneider, Maude; Armando, Marco; ... Eliez, Stéphan 2020
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Systematic genetic study of diabetic youth in a single country reveals the prevalence of diabetes subtypes, novel candidate genes, and response to precision therapy Stankute, Ingrida; Verkauskiene, Rasa; Blouin, Jean-Louis; Klee, Philippe; ... Schwitzgebel Luscher, Valérie 2020
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Immunologic clearance of a BK virus-associated metastatic renal allograft carcinoma Meier, Raphael; Muller, Yannick; Dietrich, Pierre-Yves; Tille, Jean-Christophe; ... Berney, Thierry 2020
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Beta-cell-specific expression of NOX5 aggravates high fat diet-induced impairment of islet insulin secretion in mice Bouzakri, Karim; Veyrat-Durebex, Christelle; Holterman, Chet E; Arous, Caroline; ... Szanto, Ildiko 2020
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Perioperative management of a severe congenital hypofibrinogenemia with thrombotic phenotype Simurda, Tomas; Casini, Alessandro; Stasko, Jan; Hudecek, Jan; ... Kubisz, Peter 2020
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Developmental trajectories of subcortical structures in relation to dimensional schizotypy expression along adolescence Derome, Melodie; Zoeller, Daniela; Modinos, Gemma; Schaer, Marie; ... Debbané, Martin 2020
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Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion Cleynen, Isabelle; Engchuan, Worrawat; Hestand, Matthew S; Heung, Tracy; ... Bassett, Anne S 2020
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Altered BDNF methylation in patients with chronic musculoskeletal pain and high biopsychosocial complexity Giacobino, Ariane; Luthi, François; Stenz, Ludwig; Le Carré, Joane; ... Léger, Bertrand 2020
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Developmental trajectories of cortical thickness in relation to schizotypy during adolescence Derome, Melodie; Tonini, Emiliana; Zoeller, Daniela; Schaer, Marie; ... Debbané, Martin 2020
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Abnormal development and dysconnectivity of distinct thalamic nuclei in patients with 22q11.2 deletion syndrome experiencing auditory hallucinations Mancini, Valentina; Zoeller, Daniela; Schneider, Maude; Schaer, Marie; Eliez, Stéphan 2020
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Protection against XY gonadal sex reversal by a variant region on mouse chromosome 13 Livermore, Catherine; Simon, Michelle; Reeves, Richard; Stevant, Isabelle; ... Greenfield, Andy 2020
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The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice Bagheri-Fam, Stefan; Chen, Huijun; Wilson, Sean; Ayers, Katie; ... Wilhelm, Dagmar 2020
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