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

Feasibility of Optical Genome Mapping from Placental and Umbilical Cord Sampled after Spontaneous or Therapeutic Pregnancy Termination

利用自然流产或治疗性妊娠终止后胎盘和脐带样本进行光学基因组图谱绘制的可行性

Goumy, Carole; Ouedraogo, Zangbéwendé Guy; Bellemonte, Elodie; Eymard-Pierre, Eleonore; Soler, Gwendoline; Perthus, Isabelle; Pebrel-Richard, Céline; Gouas, Laetitia; Salaun, Gaëlle; Véronèse, Lauren; Laurichesse, Hélène; Darcha, Claude; Tchirkov, Andrei

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

勘误:作者更正:用于识别 Phelan-McDermid 综合征患者致病基因的框架

Tabet, Anne-Claude; Rolland, Thomas; Ducloy, Marie; Lévy, Jonathan; Buratti, Julien; Mathieu, Alexandre; Haye, Damien; Perrin, Laurence; Dupont, Céline; Passemard, Sandrine; Capri, Yline; Verloes, Alain; Drunat, Séverine; Keren, Boris; Mignot, Cyril; Marey, Isabelle; Jacquette, Aurélia; Whalen, Sandra; Pipiras, Eva; Benzacken, Brigitte; Chantot-Bastaraud, Sandra; Afenjar, Alexandra; Héron, Delphine; Le Caignec, Cédric; Beneteau, Claire; Pichon, Olivier; Isidor, Bertrand; David, Albert; El Khattabi, Laila; Kemeny, Stephan; Gouas, Laetitia; Vago, Philippe; Mosca-Boidron, Anne-Laure; Faivre, Laurence; Missirian, Chantal; Philip, Nicole; Sanlaville, Damien; Edery, Patrick; Satre, Véronique; Coutton, Charles; Devillard, Françoise; Dieterich, Klaus; Vuillaume, Marie-Laure; Rooryck, Caroline; Lacombe, Didier; Pinson, Lucile; Gatinois, Vincent; Puechberty, Jacques; Chiesa, Jean; Lespinasse, James; Dubourg, Christèle; Quelin, Chloé; Fradin, Mélanie; Journel, Hubert; Toutain, Annick; Martin, Dominique; Benmansour, Abdelamdjid; Leblond, Claire S; Toro, Roberto; Amsellem, Frédérique; Delorme, Richard; Bourgeron, Thomas

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

用于识别 Phelan-McDermid 综合征患者致病基因的框架

Tabet, Anne-Claude; Rolland, Thomas; Ducloy, Marie; Lévy, Jonathan; Buratti, Julien; Mathieu, Alexandre; Haye, Damien; Perrin, Laurence; Dupont, Céline; Passemard, Sandrine; Capri, Yline; Verloes, Alain; Drunat, Séverine; Keren, Boris; Mignot, Cyril; Marey, Isabelle; Jacquette, Aurélia; Whalen, Sandra; Pipiras, Eva; Benzacken, Brigitte; Chantot-Bastaraud, Sandra; Afenjar, Alexandra; Héron, Delphine; Le Caignec, Cédric; Beneteau, Claire; Pichon, Olivier; Isidor, Bertrand; David, Albert; El Khattabi, Laila; Kemeny, Stephan; Gouas, Laetitia; Vago, Philippe; Mosca-Boidron, Anne-Laure; Faivre, Laurence; Missirian, Chantal; Philip, Nicole; Sanlaville, Damien; Edery, Patrick; Satre, Véronique; Coutton, Charles; Devillard, Françoise; Dieterich, Klaus; Vuillaume, Marie-Laure; Rooryck, Caroline; Lacombe, Didier; Pinson, Lucile; Gatinois, Vincent; Puechberty, Jacques; Chiesa, Jean; Lespinasse, James; Dubourg, Christèle; Quelin, Chloé; Fradin, Mélanie; Journel, Hubert; Toutain, Annick; Martin, Dominique; Benmansour, Abdelamdjid; Leblond, Claire S; Toro, Roberto; Amsellem, Frédérique; Delorme, Richard; Bourgeron, Thomas

Quality control of microbiota metagenomics by k-mer analysis

利用k-mer分析进行微生物群宏基因组学质量控制

Plaza Onate, Florian; Batto, Jean-Michel; Juste, Catherine; Fadlallah, Jehane; Fougeroux, Cyrielle; Gouas, Doriane; Pons, Nicolas; Kennedy, Sean; Levenez, Florence; Dore, Joel; Ehrlich, S Dusko; Gorochov, Guy; Larsen, Martin

An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3

由CLN3基因隐性突变引起的16p11.2缺失综合征具有不寻常的临床严重程度

Pebrel-Richard, Céline; Debost-Legrand, Anne; Eymard-Pierre, Eléonore; Greze, Victoria; Kemeny, Stéphan; Gay-Bellile, Mathilde; Gouas, Laetitia; Tchirkov, Andreï; Vago, Philippe; Goumy, Carole; Francannet, Christine

Hepatitis B and Hepatitis C Infection Biomarkers and TP53 Mutations in Hepatocellular Carcinomas from Colombia

哥伦比亚肝细胞癌中的乙肝和丙肝感染生物标志物和 TP53 突变

Maria-Cristina Navas, Iris Suarez, Andrea Carreño, Diego Uribe, Wilson Alfredo Rios, Fabian Cortes-Mancera, Ghyslaine Martel, Beatriz Vieco, Diana Lozano, Carlos Jimenez, Doriane Gouas, German Osorio, Sergio Hoyos, Juan Carlos Restrepo, Gonzalo Correa, Sergio Jaramillo, Rocio Lopez, Luis Eduardo Bra

Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjects

在健康受试者中证实离子通道基因单核苷酸多态性与QTc间期持续时间之间的关联

Gouas, L; Nicaud, V; Chaouch, S; Berthet, M; Forhan, A; Tichet, J; Tiret, L; Balkau, B; Guicheney, P