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

Confined placental mosaicism is a diagnostic pitfall in dystrophinopathies: a clinical report

局限性胎盘嵌合体是肌营养不良症诊断中的一个陷阱:一份临床报告

Sabbagh, Quentin; Larrieux, Marion; Schneider, Anouck; Theze, Corinne; Vincent, Marie-Claire; Coubes, Christine; Puechberty, Jacques; Renard, Sarah; Koenig, Michel; Pellestor, Franck; Cossée, Mireille; Gatinois, Vincent

Reply to Van Opstal D. & Faas B.H.W

回复 Van Opstal D. & Faas BHW

D'Adamo, Pio; Guerci, Veronica Ileana; Fabretto, Antonella; Faletra, Flavio; Grasso, Domenico Leonardo; Ronfani, Luca; Montico, Marcella; Morgutti, Marcello; Guastalla, PierPaolo; Gasparini, Paolo; Sabbagh, Quentin; Larrieux, Marion; Schneider, Anouck; Theze, Corinne; Vincent, Marie-Claire; Coubes, Christine; Puechberty, Jacques; Renard, Sarah; Koenig, Michel; Pellestor, Franck; Cossée, Mireille; Gatinois, Vincent

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective

Smith-Magenis综合征和Potocki-Lupski综合征的DNA甲基化表观遗传特征:镜像视角

van der Laan, Liselot; Karimi, Karim; Rooney, Kathleen; Alders, Mariëlle; Brusco, Alfredo; Lasa-Aranzasti, Amaia; Brunetti-Pierri, Nicola; Cueto-Gonzalez, Anna M; DuPont, Barbara R; Cappuccio, Gerarda; Dubourg, Christele; Everman, David; Gatinois, Vincent; Ganne, Benjamin; Genevieve, David; Ferrero, Giovanni Battista; Kempers, Marlies; Levy, Michael A; Niceta, Marcello; Novelli, Antonio; Orlando, Valeria; Odent, Sylvie; Patterson, Wesley G; Polstra, Abeltje M; Roscioli, Tony; Ruiz-Pallares, Nathalie; Sabbagh, Quentin; Trajkova, Slavica; Tartaglia, Marco; Tedder, Matthew A; Toutain, Annick; Koehler, Udo; Valenzuela, Irena; van Hagen, Johanna M; van der Kevie-Kersemaekers, Anne-Marie; Henneman, Peter; Mannens, Marcel M A M; Sadikovic, Bekim; van Haelst, Mieke M

Chromoplexy: A Pathway to Genomic Complexity and Cancer Development

染色体复合体:通往基因组复杂性和癌症发展的途径

Pellestor, Franck; Ganne, Benjamin; Gaillard, Jean Baptiste; Gatinois, Vincent

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

SRSF1单倍体不足是导致一种与智力障碍相关的综合征性发育障碍的原因。

Bogaert, Elke; Garde, Aurore; Gautier, Thierry; Rooney, Kathleen; Duffourd, Yannis; LeBlanc, Pontus; van Reempts, Emma; Tran Mau-Them, Frederic; Wentzensen, Ingrid M; Au, Kit Sing; Richardson, Kate; Northrup, Hope; Gatinois, Vincent; Geneviève, David; Louie, Raymond J; Lyons, Michael J; Laulund, Lone Walentin; Brasch-Andersen, Charlotte; Maxel Juul, Trine; El It, Fatima; Marle, Nathalie; Callier, Patrick; Relator, Raissa; Haghshenas, Sadegheh; McConkey, Haley; Kerkhof, Jennifer; Cesario, Claudia; Novelli, Antonio; Brunetti-Pierri, Nicola; Pinelli, Michele; Pennamen, Perrine; Naudion, Sophie; Legendre, Marine; Courdier, Cécile; Trimouille, Aurelien; Fenzy, Martine Doco; Pais, Lynn; Yeung, Alison; Nugent, Kimberly; Roeder, Elizabeth R; Mitani, Tadahiro; Posey, Jennifer E; Calame, Daniel; Yonath, Hagith; Rosenfeld, Jill A; Musante, Luciana; Faletra, Flavio; Montanari, Francesca; Sartor, Giovanna; Vancini, Alessandra; Seri, Marco; Besmond, Claude; Poirier, Karine; Hubert, Laurence; Hemelsoet, Dimitri; Munnich, Arnold; Lupski, James R; Philippe, Christophe; Thauvin-Robinet, Christel; Faivre, Laurence; Sadikovic, Bekim; Govin, Jérôme; Dermaut, Bart; Vitobello, Antonio

Quantification of Female Chimeric Cells in the Tonsils of Male Children and Their Determinants

男性儿童扁桃体中雌性嵌合细胞的量化及其决定因素

Boris Dmitrenko, Vincent Gatinois, Morgana D'Ottavi, Ahmed El Mouatani, Pauline Bouret, Ségolène Debiesse, Michel Mondain, Mohamed Akkari, Maxime Dallemagne, Franck Pellestor, Philippe Vande Perre, Jean-Pierre Molès

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

1p36缺失综合征:回顾和定位,并进一步表征其表型,一项包含86例患者的新队列研究

Jacquin, Clémence; Landais, Emilie; Poirsier, Céline; Afenjar, Alexandra; Akhavi, Ahmad; Bednarek, Nathalie; Bénech, Caroline; Bonnard, Adeline; Bosquet, Damien; Burglen, Lydie; Callier, Patrick; Chantot-Bastaraud, Sandra; Coubes, Christine; Coutton, Charles; Delobel, Bruno; Descharmes, Margaux; Dupont, Jean-Michel; Gatinois, Vincent; Gruchy, Nicolas; Guterman, Sarah; Heddar, Abdelkader; Herissant, Lucas; Heron, Delphine; Isidor, Bertrand; Jaeger, Pauline; Jouret, Guillaume; Keren, Boris; Kuentz, Paul; Le Caignec, Cedric; Levy, Jonathan; Lopez, Nathalie; Manssens, Zoe; Martin-Coignard, Dominique; Marey, Isabelle; Mignot, Cyril; Missirian, Chantal; Pebrel-Richard, Céline; Pinson, Lucile; Puechberty, Jacques; Redon, Sylvia; Sanlaville, Damien; Spodenkiewicz, Marta; Tabet, Anne-Claude; Verloes, Alain; Vieville, Gaelle; Yardin, Catherine; Vialard, François; Doco-Fenzy, Martine

Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

利用深度神经网络驱动的面部识别技术来识别不同的歌舞伎综合征1型和2型。

Rouxel, Flavien; Yauy, Kevin; Boursier, Guilaine; Gatinois, Vincent; Barat-Houari, Mouna; Sanchez, Elodie; Lacombe, Didier; Arpin, Stéphanie; Giuliano, Fabienne; Haye, Damien; Rio, Marlène; Toutain, Annick; Dieterich, Klaus; Brischoux-Boucher, Elise; Julia, Sophie; Nizon, Mathilde; Afenjar, Alexandra; Keren, Boris; Jacquette, Aurelia; Moutton, Sebastien; Jacquemont, Marie-Line; Duflos, Claire; Capri, Yline; Amiel, Jeanne; Blanchet, Patricia; Lyonnet, Stanislas; Sanlaville, Damien; Genevieve, David

AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis

AnnotSV 和 knotAnnotSV:用于人类结构变异注释、排序和分析的 Web 服务器

Geoffroy, Véronique; Guignard, Thomas; Kress, Arnaud; Gaillard, Jean-Baptiste; Solli-Nowlan, Tor; Schalk, Audrey; Gatinois, Vincent; Dollfus, Hélène; Scheidecker, Sophie; Muller, Jean

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4

Treacher Collins 综合征 4 型中的 POLR1B 和神经嵴细胞异常

Elodie Sanchez # ,Béryl Laplace-Builhé # ,Frédéric Tran Mau-Them ,Eric Richard ,Alice Goldenberg ,Tomi L Toler ,Thomas Guignard ,Vincent Gatinois ,Marie Vincent ,Catherine Blanchet ,Anne Boland ,Marie Thérèse Bihoreau ,Jean-Francois Deleuze ,Robert Olaso ,Walton Nephi ,Hermann-Josef Lüdecke ,Joke B G M Verheij ,Florence Moreau-Lenoir ,Françoise Denoyelle ,Jean-Baptiste Rivière ,Jean-Louis Laplanche ,Marcia Willing ,Guillaume Captier ,Florence Apparailly ,Dagmar Wieczorek ,Corinne Collet ,Farida Djouad # ,David Geneviève #