日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

对snRNA基因的系统分析揭示了显性和隐性发育性脑病和癫痫性脑病中常见的RNU2-2变异。

Leitão, Elsa; Santini, Amandine; Cogne, Benjamin; Essid, Miriam; Athanasiadou, Maria; LaFlamme, Christy W; Marijon, Pierre; Bernard, Virginie; Jousselin, Kevin; Chatron, Nicolas; Barcia, Giulia; Keren, Boris; Mignot, Cyril; Charles, Perrine; Besnard, Thomas; Paluch, Robin; de Sainte Agathe, Jean-Madeleine; Almanza Fuerte, Edith P; Sengupta, Soham; Milh, Mathieu; Ramond, Francis; Allan, Talia; An, Isabelle; Araujo, Camila; Arpin, Stéphanie; Austin-Tse, Christina; Auvin, Stéphane; Baer, Sarah; Bahi-Buisson, Nadia; Bak, Mads; Barth, Magalie; Baulac, Stéphanie; Bednarek-Weirauch, Nathalie; Begemann, Matthias; Bennett, Mark F; Bensabath, Uriel; Bézieau, Stéphane; Bhouri, Rakia; Biehler, Margaux; Hammer, Trine Bjørg; Bogoin, Julie; Bonanno, Emilie; Boussion, Simon; Bris, Céline; Brosseau-Beauvir, Adelaide; Bruel, Ange-Line; Briand-Suleau, Audrey; Buratti, Julien; Celse, Tristan; Chambon, Pascal; Chemaly, Nicole; Chesneau, Bertrand; Colin, Estelle; Colmard, Maxime; Colson, Cindy; Conrad, Solène; Courtin, Thomas; Creveaux, Isabelle; Cullier, Anne-Charlotte; Dang, Louis T; de Saint Martin, Anne; de Vanssay de Blavous Legendre, Caroline; Demeer, Bénédicte; Denommé-Pichon, Anne-Sophie; Diekhoff, Philine; DiTroia, Stephanie; Doco-Fenzy, Martine; Dubourg, Christèle; Dubucs, Charlotte; Ducreux, Stéphanie; Dufour, Louis; Duquet, Romain; Durand, Benjamin; El Chehadeh, Salima; Elbracht, Miriam; Faivre, Laurence; Faoucher, Marie; Faudet, Anne; Forlani, Sylvie; Fradin, Mélanie; Gaignard, Pauline; Ganne, Benjamin; Garde, Aurore; Géraud, Justine; Gill, Deepak; Goldenberg, Alice; Grabli, David; Grisel, Coraline; Gueden, Sophie; Gueguen, Paul; Guerrot, Anne-Marie; Guichet, Agnès; Haack, Tobias B; Härting, Nina; Häusler, Martin Georg; Heide, Solveig; Herget, Theresia; Héron, Bénédicte; Héron, Delphine; Herwig, Johanna; Heulin, Mathilde; Holling, Tess; Houdayer, Clara; Isidor, Bertrand; Jacquette, Aurélia; Januel, Louis; Jean-Marçais, Nolwenn; Kaiser, Frank J; Kaya, Sabine; King, Chontelle; Konyukh, Marina; Kraft, Florian; Krause, Jeremias; Kirstetter, Rémi; Kuechler, Alma; Kurth, Ingo; Kutsche, Kerstin; Labalme, Audrey; Laloy, Jean-Serene; Laugel, Vincent; Le Bricquir, Floriane; Lèbre, Anne-Sophie; Lebrun, Marine; Leguern, Eric; Levy, Jonathan; Lieffering, Nico; Lyonnet, Stanislas; Lüthy, Kevin; Macdonald, Sian M W; Mansour-Hendili, Lamisse; Maraval, Julien; Marquardt, Iris; Mattausch, Carolin; Mercier, Sandra; Messaoud, Olfa; Morel, Godelieve; Mortreux, Jérémie; Munnich, Arnold; Nabbout, Rima; Nambot, Sophie; Navarro, Vincent; Neale, Ashana; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; O'Leary, Melanie C; Odent, Sylvie; Ojeda, Naomi Meave; Olin, Valérie; Olivieri, Simone; Õunap, Katrin; Pais, Lynn S; Panagiotakaki, Eleni; Patat, Olivier; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Piton, Amélie; Planes, Marc; Poirsier, Céline; Pouzet, Antoine; Prouteau, Clément; Quéméner-Redon, Sylvia; Renaud, Mathilde; Richard, Anne-Claire; Rio, Marlène; Rivier, Clotilde; Robin-Renaldo, Florence; Rollier, Paul; Rossi, Massimiliano; Roubertie, Agathe; Ruault, Valentin; Rupin-Mas, Maïlys; Saugier-Veber, Pascale; Saunier, Aline; Saneto, Russell; Sarrazin, Elisabeth; Sarret, Catherine; Schaefer, Elise; Schluth-Bolard, Caroline; Schneider, Amy; Schumann, Isabell; Seplyarskiy, Vladimir B; Spranger, Stephanie; Smol, Thomas; Sturm, Marc; Sunyaev, Shamil R; Sperelakis-Beedham, Brian; Stenton, Sarah L; Stock, Friedrich; Tharreau, Mylène; Torun, Deniz; Toulouse, Joseph; Thiyagarajah, Harshini; Valence, Stéphanie; Valleix, Sophie; Van-Gils, Julien; Villard, Laurent; Ville, Dorothée; Villeneuve, Nathalie; Vitobello, Antonio; Waernessyckle, Aurélie; Wagner, Jan; Weber, Yvonne; Wieczorek, Dagmar; Witkowski, Tom; Yadavilli, Manya; Yammine, Tony; Zaafrane-Khachnaoui, Khaoula; Zaki, Maha S; Ziegler, Alban; Bramswig, Nuria C; Lermine, Alban; Nicolas, Gael; Gleeson, Joseph G; Sadleir, Lynette G; Hildebrand, Michael S; Scheffer, Ingrid E; Whiffin, Nicola; O'Donnell-Luria, Anne; Mefford, Heather C; Blanc, Pierre; Thevenon, Julien; Charbonnier, Camille; Charenton, Clément; Depienne, Christel; Lesca, Gaetan; Nava, Caroline

Symptom experience of women with ischemia and no obstructive coronary artery disease: A mixed-methods approach

患有缺血但无阻塞性冠状动脉疾病的女性的症状体验:一种混合方法研究

Thandra, Sneha; Dave, Esha; Leon, Ana; Huang, Jingwen; Schwartz, Arielle; Gaignard, Scott; Higgins, Melinda; Kimble, Laura P; Mehta, Puja K

Circulatory response to exercise relative to oxygen uptake assessed in the follow-up of patients with fatty acid beta-oxidation disorders

在对脂肪酸β-氧化障碍患者进行随访时,评估运动时循环反应与氧摄取量的关系。

Imbard, Apolline; de Calbiac, Hortense; Le Guillou, Edouard; Laforêt, Pascal; Schiff, Manuel; Brassier, Anaïs; Thevenet, Elise; Pontoizeau, Clément; Lefrère, Bertrand; Ottolenghi, Chris; Lebigot, Elise; Gaignard, Pauline; Gobin, Stéphanie; Acquaviva-Bourdain, Cécile; Benoist, Jean-François; Tuchmann-Durand, Caroline; Legendre, Antoine; de Lonlay, Pascale

The Experience of Women With Breast or Gynecological Cancer After Participation in an Online Mindfulness-Based Cancer Recovery (e-MBCR) Program: Secondary Outcomes Analysis of a Pilot Mixed Methods Randomized Controlled Trial

参与在线正念癌症康复(e-MBCR)项目后乳腺癌或妇科癌症女性的体验:一项混合方法随机对照试验的次要结果分析

Gaignard, Marie-Estelle; Martin, Dominica; Stanic, Jelena; Hilfiker, Roger; Bodmer, Alexandre; Ljuslin, Michael; Zaman, Khalil; Labidi-Galy, Intidhar; Sarivalasis, Apostolos; Carlson, Linda E; Peters, Solange; Dietrich, Pierre-Yves; Eicher, Manuela; Bondolfi, Guido; Jermann, Françoise

Characteristics and Survival Outcomes of Hepatocellular Carcinoma After the Fontan Operation

Fontan手术后肝细胞癌的特征和生存结果

Rosenthal, Benjamin E; Hoteit, Maarouf A; Lluri, Gentian; Haeffele, Christiane; Daugherty, Tami; Krasuski, Richard A; Serfas, John D; de Freitas, R Andrew; Porlier, Avaliese; Lubert, Adam M; Wu, Fred M; Valente, Anne Marie; Krieger, Eric V; Buber, Yonatan; Rodriguez, Fred H 3rd; Gaignard, Scott; Saraf, Anita; Hindes, Morgan; Earing, Michael G; Lewis, Matthew J; Rosenbaum, Marlon S; Zaidi, Ali N; Hopkins, Kali; Bradley, Elisa A; Cedars, Ari M; Ko, Jong L; Franklin, Wayne J; Frederickson, Abby; Ginde, Salil; Grewal, Jasmine; Nyman, Annique; Min, Jungwon; Schluger, Charlotte; Rand, Elizabeth; Hilscher, Moira; Rychik, Jack; Kim, Yuli Y

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

对snRNA基因的系统分析揭示了显性和隐性发育性脑病和癫痫性脑病中常见的RNU2-2变异。

Leitão, Elsa; Santini, Amandine; Cogne, Benjamin; Essid, Myriam; Athanasiadou, Maria; LaFlamme, Christy W; Marijon, Pierre; Bernard, Virginie; Chatron, Nicolas; Barcia, Giulia; Keren, Boris; Mignot, Cyril; Charles, Perrine; Besnard, Thomas; de Sainte Agathe, Jean-Madeleine; Fuerte, Edith P Almanza; Sengupta, Soham; Milh, Mathieu; Ramond, Francis; Allan, Talia; An, Isabelle; Araujo, Camila; Arpin, Stephanie; Austin-Tse, Christina; Auvin, Stéphane; Baer, Sarah; Bahi-Buisson, Nadia; Bak, Mads; Barth, Magalie; Baulac, Stéphanie; Weirauch, Nathalie Bednark; Begemann, Matthias; Bennett, Mark F; Bensabath, Uriel; Bézieau, Stéphane; Bhouri, Rakia; Biehler, Margaux; Hammer, Trine Bjørg; Bogoin, Julie; Bonanno, Emilie; Boussion, Simon; Bramswig, Nuria C; Bris, Céline; Brosseau-Beauvir, Adelaide; Bruel, Ange-Line; Buratti, Julien; Chambon, Pascal; Chemaly, Nicole; Chesneau, Bertrand; Colin, Estelle; Colmard, Maxime; Conrad, Solène; Courtin, Thomas; Dang, Louis T; de Saint Martin, Anne; de Vanssay de Blavous Legendre, Caroline; Denommé-Pichon, Anne-Sophie; DiTroia, Stephanie; Doco-Fenzy, Martine; Dubourg, Christèle; Dubucs, Charlotte; Ducreux, Stéphanie; Dufour, Louis; Duquet, Romain; Durand, Benjamin; Chehadeh, Salima El; Elbracht, Miriam; Faivre, Laurence; Faoucher, Marie; Faudet, Anne; Forlani, Sylvie; Fradin, Mélanie; Gaignard, Pauline; Ganne, Benjamin; Garde, Aurore; Géraud, Justine; Gill, Deepak; Goldenberg, Alice; Grabli, David; Grisel, Coraline; Gueden, Sophie; Gueguen, Paul; Guerrot, Anne-Marie; Guichet, Agnès; Härting, Nina; Häusler, Martin Georg; Heide, Solveig; Héron, Bénédicte; Héron, Delphine; Heulin, Mathilde; Houdayer, Clara; Isidor, Bertrand; Jacquette, Aurélia; Januel, Louis; Jean-Marçais, Nolwenn; Jousselin, Kevin; Kaiser, Frank J; Kaya, Sabine; King, Chontelle; Konyukh, Marina; Kraft, Florian; Krause, Jeremias; Kirstetter, Rémi; Kuechler, Alma; Kurth, Ingo; Labalme, Audrey; Laloy, Jean-Serene; Laugel, Vincent; Bricquir, Floriane Le; Lèbre, Anne-Sophie; Lebrun, Marine; Leguern, Eric; Levy, Jonathan; Lieffering, Nico; Lyonnet, Stanislas; Lüthy, Kevin; Macdonald, Sian; Mansour-Hendili, Lamisse; Maraval, Julien; Mattausch, Carolin; Messaoud, Olfa; Morel, Godelieve; Mortreux, Jérémie; Munnich, Arnold; Nabbout, Rima; Nambot, Sophie; Navarro, Vincent; Neale, Ashana; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; O'Leary, Melanie C; Odent, Sylvie; Ojeda, Naomi Meave; Olin, Valerie; Õunap, Katrin; Pais, Lynn S; Paluch, Robin; Panagiotakaki, Eleni; Patat, Olivier; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Piton, Amélie; Planes, Marc; Poirsier, Céline; Pouzet, Antoine; Prouteau, Clément; Quéméner-Redon, Sylvia; Renaud, Mathilde; Richard, Anne-Claire; Rio, Marlène; Rivier, Clotilde; Robin-Renaldo, Florence; Rollier, Paul; Rossi, Massimiliano; Roubertie, Agathe; Rupin, Mailys; Saugier-Veber, Pascale; Saneto, Russell; Sarrazin, Elisabeth; Schaefer, Elise; Schluth-Bolard, Caroline; Schneider, Amy; Schumann, Isabell; Seplyarskiy, Vladimir; Smol, Thomas; Sunyaev, Shamil; Sperelakis-Beedham, Brian; Stenton, Sarah L; Stock, Friedrich; Tharreau, Mylene; Torun, Deniz; Toulouse, Joseph; Thiyagarajah, Harshini; Valence, Stéphanie; Valleix, Sophie; Villard, Laurent; Ville, Dorothée; Villeneuve, Nathalie; Vitobello, Antonio; Waernessyckle, Aurélie; Weber, Yvonne; Wieczorek, Dagmar; Witkowski, Tom; Yadavilli, Manya; Yammine, Tony; Zaafrane-Khachnaoui, Khaoula; Zaki, Maha S; Ziegler, Alban; Lermine, Alban; Nicolas, Gael; Gleeson, Joseph G; Sadleir, Lynette G; Hildebrand, Michael S; Scheffer, Ingrid E; Whiffin, Nicola; O'Donnell-Luria, Anne; Mefford, Heather C; Blanc, Pierre; Thevenon, Julien; Charbonnier, Camille; Charenton, Clément; Depienne, Christel; Lesca, Gaetan; Nava, Caroline

Hepatocellular carcinoma in survivors after Fontan operation: a case-control study

Fontan手术幸存者发生肝细胞癌:一项病例对照研究

Kim, Yuli Y; Lluri, Gentian; Haeffele, Christiane; Daugherty, Tami; Krasuski, Richard A; Serfas, John D; de Freitas, R Andrew; Porlier, Avaliese; Lubert, Adam M; Wu, Fred M; Valente, Anne Marie; Krieger, Eric V; Buber, Jonathan; Rodriguez, Fred H 3rd; Gaignard, Scott; Saraf, Anita; Hindes, Morgan; Earing, Michael G; Lewis, Matthew J; Rosenbaum, Marlon S; Zaidi, Ali N; Hopkins, Kali; Bradley, Elisa A; Cedars, Ari M; Ko, Jong L; Franklin, Wayne J; Frederickson, Abby; Ginde, Salil; Grewal, Jasmine; Nyman, Annique; Min, Jungwon; Schluger, Charlotte; Rand, Elizabeth; Rosenthal, Benjamin E; Hilscher, Moira; Rychik, Jack; Hoteit, Maarouf A

Exopolysaccharide from marine microalgae belonging to the Glossomastix genus: fragile gel behavior and suspension stability

来自海洋微藻(属于舌鞭藻属)的胞外多糖:易碎凝胶行为和悬浮稳定性

Dulong, Virginie; Rihouey, Christophe; Gaignard, Clément; Bridiau, Nicolas; Gourvil, Priscilla; Laroche, Céline; Pierre, Guillaume; Varacavoudin, Tony; Probert, Ian; Maugard, Thierry; Michaud, Philippe; Picton, Luc; Le Cerf, Didier

Primary mitochondrial disorders and mimics: Insights from a large French cohort

原发性线粒体疾病及其类似疾病:来自法国大型队列研究的启示

Rouzier, Cécile; Pion, Emmanuelle; Chaussenot, Annabelle; Bris, Céline; Ait-El-Mkadem Saadi, Samira; Desquiret-Dumas, Valérie; Gueguen, Naïg; Fragaki, Konstantina; Amati-Bonneau, Patrizia; Barcia, Giulia; Gaignard, Pauline; Steffann, Julie; Pennisi, Alessandra; Bonnefont, Jean-Paul; Lebigot, Elise; Bannwarth, Sylvie; Francou, Bruno; Rucheton, Benoit; Sternberg, Damien; Martin-Negrier, Marie-Laure; Trimouille, Aurélien; Hardy, Gaëlle; Allouche, Stéphane; Acquaviva-Bourdain, Cécile; Pagan, Cécile; Lebre, Anne-Sophie; Reynier, Pascal; Cossee, Mireille; Attarian, Shahram; Paquis-Flucklinger, Véronique; Procaccio, Vincent

Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency

儿童期发病的DNA聚合酶γ缺乏症具有独特的临床病程和缩短的寿命

Rötig, Agnès; Gaignard, Pauline; Barcia, Giulia; Assouline, Zahra; Berat, Claire-Marine; Barth, Magalie; Damaj, Léna; Laborde, Nolwenn; Abi-Warde, Marie-Thérèse; Chabrol, Brigitte; De Lonlay, Pascale; Desguerre, Isabelle; Goldenberg, Alice; Gonzales, Emmanuel; Jacquemin, Emmanuel; Amati-Bonneau, Patrizia; Bonneau, Dominique; Abadie, Véronique; Bonnemains, Chrystèle; Broue, Pierre; De Saint-Martin, Anne; Durand, Philippe; Fouilhoux, Alain; Isidor, Bertrand; Jaroussie, Marianne; Jedraszak, Guillaume; Maurey, Hélène; Mention, Karine; Odent, Sylvie S; Pasquier, Laurent; Rougeot-Jung, Christelle; Gitiaux, Cyril; Roux, Charles-Joris; Boddaert, Nathalie; Munnich, Arnold; Schiff, Manuel