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RNF216 Variants Found in Patients With Dementia, Hypogonadotropic Hypogonadism, and Severe Ataxia Deregulate Autophagy 在痴呆、低促性腺激素性性腺功能减退和严重共济失调患者中发现的RNF216变异可导致自噬失调。 Young, Jacques; Abdennebi, Ines; Le Saec, Marion; Magnin, Francoise; Amazit, Larbi; Kamenicky, Peter; Maione, Luigi; Bouligand, Jerome; Beau, Isabelle 分享 收藏
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KDM1A genotyping and expression in 146 sporadic somatotroph pituitary adenomas Chasseloup, Fanny; Regazzo, Daniela; Tosca, Lucie; Proust, Alexis; Kuhn, Emmanuelle; Hage, Mirella; Jublanc, Christel; Mokhtari, Karima; Dalle Nogare, Mattia; Avallone, Serena; Ceccato, Filippo; Tachdjian, Gerard; Salenave, Sylvie; Young, Jacques; Gaillard, Stephan; Parker, Fabrice; Boch, Anne-Laure; Chanson, Philippe; Bouligand, Jerome; Occhi, Gianluca; Kamenicky, Peter 分享 收藏
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Differentiating pathologic parathyroid glands from thyroid nodules on neck ultrasound: the PARATH-US cross-sectional study Yazgi, Dolly; Richa, Carine; Salenave, Sylvie; Kamenicky, Peter; Bourouina, Amel; Clavier, Lorraine; Dupeux, Margot; Papon, Jean-Francois; Young, Jacques; Chanson, Philippe; Maione, Luigi 分享 收藏
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Impact of Cushing's syndrome on the gonadotrope axis and testicular functions in men Papadakis, Georgios E.; de Kalbermatten, Benedicte; Dormoy, Alexandre; Salenave, Sylvie; Trabado, Severine; Vieira-Pinto, Oceana; Richa, Carine; Kamenicky, Peter; Chanson, Philippe; Maione, Luigi; Pitteloud, Nelly; Young, Jacques 分享 收藏
Increase in intracellular and extracellular myocardial mass in patients with acromegaly: a cardiac magnetic resonance imaging study 肢端肥大症患者细胞内和细胞外心肌质量增加: 心脏磁共振成像研究 Wolf, Peter; Bouazizi, Khaoula; Kachenoura, Nadjia; Piedvache, Celine; Gallo, Antonio; Salenave, Sylvie; Maione, Luigi; Young, Jacques; Prigent, Mikael; Lecoq, Anne-Lise; Kuhn, Emmanuelle; Agostini, Helene; Trabado, Severine; Redheuil, Alban; Chanson, Philippe; Kamenicky, Peter 分享 收藏
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Efficacy and Safety of Osilodrostat in Paraneoplastic Cushing Syndrome: A Real-World Multicenter Study in France Dormoy, Alexandre; Haissaguerre, Magalie; Vitellius, Geraldine; Do Cao, Christine; Geslot, Aurore; Drui, Delphine; Lasolle, Helene; Vieira-Pinto, Oceana; Salenave, Sylvie; Francois, Maud; Puerto, Marie; Du Boullay, Helene; Mayer, Anne; Rod, Anne; Laurent, Claire; Chanson, Philippe; Reznik, Yves; Castinetti, Frederic; Chabre, Olivier; Baudin, Eric; Raverot, Gerald; Tabarin, Antoine; Young, Jacques 分享 收藏
Combining metabolomics and machine learning models as a tool to distinguish non-classic 21-hydroxylase deficiency from polycystic ovary syndrome without adrenocorticotropic hormone testing Bachelot, Guillaume; Bachelot, Anne; Bonnier, Marion; Salem, Joe-Elie; Farabos, Dominique; Trabado, Severine; Dupont, Charlotte; Kamenicky, Peter; Houang, Muriel; Fiet, Jean; Le Bouc, Yves; Young, Jacques; Lamaziere, Antonin 分享 收藏
Long-term efficacy and safety of osilodrostat in Cushing's disease: final results from a Phase II study with an optional extension phase (LINC 2) Osiodrostat在库欣病中的长期疗效和安全性: 具有可选扩展阶段 (LINC 2) 的II期研究的最终结果 Fleseriu, Maria; Biller, Beverly M. K.; Bertherat, Jerome; Young, Jacques; Hatipoglu, Betul; Arnaldi, Giorgio; O'Connell, Paul; Izquierdo, Miguel; Pedroncelli, Alberto M.; Pivonello, Rosario 分享 收藏
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Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis: Five Years of Experience in a Clinical Laboratory Chappell, Kenneth; Francou, Bruno; Habib, Christophe; Huby, Thomas; Leoni, Marco; Cottin, Aurelien; Nadal, Florian; Adnet, Eric; Paoli, Eric; Oliveira, Christophe; Verstuyft, Celine; Davit-Spraul, Anne; Gaignard, Pauline; Lebigot, Elise; Duclos-Vallee, Jean-Charles; Young, Jacques; Kamenicky, Peter; Adams, David; Echaniz-Laguna, Andoni; Gonzales, Emmanuel; Bouvattier, Claire; Linglart, Agnes; Picard, Veronique; Bergoin, Emilie; Jacquemin, Emmanuel; Guiochon-Mantel, Anne; Proust, Alexis; Bouligand, Jerome 分享 收藏