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

Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome

前瞻性多中心验证一种用于诊断GLUT1缺乏综合征的简易血液检测方法

Mochel, Fanny; Gras, Domitille; Luton, Marie-Pierre; Nizou, Manon; Giovannini, Donatella; Delattre, Caroline; Aubart, Mélodie; Barth, Magalie; De Saint-Martin, Anne; Doummar, Diane; Essid, Nouha; Garros, Alexa; Le Camus, Caroline Hachon; Hoebeke, Celia; The Tich, Sylvie Nguyen; Perivier, Maximilien; Rivera, Serge; Rolland, Anne; Roubertie, Agathe; Sarret, Catherine; Sevin, Caroline; Ville, Dorothee; Sitbon, Marc; Costa, Jean-Marc; Pons, Roser; Garcia-Cazorla, Angels; Vuillaumier, Sandrine; Petit, Vincent; Boespflug-Tanguy, Odile; De Vivo, Darryl C

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.

XPR1基因突变会导致原发性家族性脑钙化,并伴有磷酸盐输出改变

Legati Andrea, Giovannini Donatella, Nicolas Gaël, López-Sánchez Uriel, Quintáns Beatriz, Oliveira João R M, Sears Renee L, Ramos Eliana Marisa, Spiteri Elizabeth, Sobrido María-Jesús, Carracedo Ángel, Castro-Fernández Cristina, Cubizolle Stéphanie, Fogel Brent L, Goizet Cyril, Jen Joanna C, Kirdlarp Suppachok, Lang Anthony E, Miedzybrodzka Zosia, Mitarnun Witoon, Paucar Martin, Paulson Henry, Pariente Jérémie, Richard Anne-Claire, Salins Naomi S, Simpson Sheila A, Striano Pasquale, Svenningsson Per, Tison François, Unni Vivek K, Vanakker Olivier, Wessels Marja W, Wetchaphanphesat Suppachok, Yang Michele, Boller Francois, Campion Dominique, Hannequin Didier, Sitbon Marc, Geschwind Daniel H, Battini Jean-Luc, Coppola Giovanni

Clinical use of pharmacogenomics

药物基因组学的临床应用

Amianti, Carolina; Bandeira, Larissa Melo; Lorenz, Aline Pedroso; Tanaka, Tayana Serpa Ortiz; Domingos, João Américo; Motta-Castro, Ana Rita Coimbra; van Montfort, Thijs; Melchers, Mark; van Capel, Tony MM; de Jong, Ester C; Paxton, William A; Sanders, Rogier W; Stax, Martijn J; Kootstra, Neeltje A; van't Wout, Angélique B; Bakker, Margreet; Pollakis, Georgios; Paxton, William A; van den Kerkhof, Tom; van Gils, Marit; Euler, Zelda; Verwer, Naomi; Sanders, Rogier; Schuitemaker, Hanneke; Snoek, Joke; Casado, Concepción; Colombo, Sara; Rauch, Andri; García, Soledad; Martinez, Raquel; Theys, Kristof; Khouri, Ricardo; Günthard, Huldrych F; Telenti, Amalio; López-Galíndez, Cecilio; Vandamme, Anne-Mieke; Garbati, Musa A; Abba, Abdullah A; Kabrang, Danjuma N; Yusuph, Haruna; Singh, Udaya Pratap; Singh, Ramendra K; Mullins, James I; Heath, Laura; Hughes, James P; Li, Deyu; Essigmann, John M; Harris, Kevin S; Simpson, Jeffrey H; Laurent, Jean-Pierre; Loeb, Lawrence A; Parkins, Jeff; Laska, Magdalena Janina; Brudek, Tomasz; Nissen, Kari Konstantin; Christensen, Tove; Larsen, Anne Møller; Petersen, Thor; Nexø, Bjørn Andersen; Pasternak, Alexander O; de Bruin, Marijun; Jurriaans, Suzanne; Bakker, Margreet; Berkhout, Ben; Prins, Jan M; Lukashov, Vladimir V; Ariën, Kevin K; Venkatraj, Muthusamy; Míchiels, Johan; Joossens, Jurgen; der Veken, PieterVan; Heeres, Jan; Abdellati, Said; Cuylaerts, Vicky; Crucitti, Tania; Lewi, Paul; Augustyns, Koen; Vanham, Guido; Sitbon, Marc; Abe, Hiroyuki; Courgnaud, Valérie; Giovannini, Donatella; Kim, Felix; Lavanya, Madakasira; Manel, Nicolas; Touhami, Jawida; Switzer, Wiliam M; Castelnau, Pierre; Lagrue, Emmanuelle; Nadal-Desbarats, Lydie; de Guillen, Karine; Roumestand, Christian; Battini, Jean-Luc; Jacquelin, Béatrice; Mayau, Véronique; Targat, Brice; Liovat, Anne-Sophie; Kunkel, Désirée; Petitjean, Gaël; Dillies, Marie-Agnès; Roques, Pierre; Butor, Cécile; Giavedoni, Luis D; Lebon, Pierre; Barré-Sinoussi, Françoise; Benecke, Arndt; Müller-Trutwin, Michaela C; Chongjian, Wang; Yuqian, Li; Weihua, He; Xiaodong, Zhang; Yihua, Xu; Shaofa, Nie; Tuaillon, Edouard; Mutasa, Kuda; Rubbo, Pierre-Alain; Choteau, Laura; Naudan, Florence; Bollore, Karine; Vendrell, Jean-Pierre; Perre, Philippe Van de; Bee, Ernree Muku; Barbu, Ernlee M; Nagbe, Wede M; Perry, Oretha; Seekey, Wede; Quaqua, Monica; Gobeh, Mawen; Woods, Diasajou; Shannon, Fulton; Kennedy, Stephen B; Fahnbulleh, Pearl; Jones, R Brad; Garrison, Keith E; Song, Haihan; Buzdin, Anton; Anwar, Naveed; Meiklejohn, Duncan A; Ndhlovu, Lishomwa C; Nixon, Douglas F; Ostrowski, Mario A; Didierlaurent, Ludovic; Houzet, Laurent; Paillart, Jean-Christophe; Morichaud, Zakia; Smagulova, Fatima; Maurel, Stephan; Marquet, Roland; Mougel, Marylène; Massoud, Raya; Van Gulck, Ellen; Van Tendeloo, Viggo F; Vlieghe, Erika; Vekemans, Marc; Van de Velde, Ann; Smits, Evelien; Anguilie, Sébastien; Cools, Nathalie; Stein, Barbara; Nijs, Griet; Goossens, Herman; Mertens, Liesbet; De Haes, Winni; Merlin, Céline; Atkinson, Derek; Wong, Johnsson; Florence, Eric; Vanham, Guido; Berneman, Zwi N; Groot, Fedde; Russell, Rebecca A; Baxter, Amy E; Welsch, Sonja; Duncan, Christopher JA; Willberg, Christopher; Ochsenbauer, Christina; Kappes, John C; Shaw, Michael; Sattentau, Quentin J; Dougier, Hei-Lanne; Lomparski, Christina; Villiers, Christian; Duperray, Alain; Bernard, Corinne; Jouvin-Marche, Evelyne; Perron, Hervé; Marche, Patrice N; Yu, Bing; Houzet, Laurent; Didierlaurent, Ludovic; Chamontin, Célia; Morichaud, Zakia; Darlix, Jean Luc; Mougel, Marylène; Hermine, Olivier; Pise-Masison, Cynthia; Telenti, Amalio