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

Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS

Shprintzen-Goldberg综合征:一项纳入29例SGS患者的国际队列研究的心血管特征随访。

Bouhatous, Yordi-Michaël; Arnaud, Pauline; Jondeau, Guillaume; Bonneau, Dominique; Rouleau, Frédéric; Plessis, Ghislaine; Vincent, Aline; Labombarda, Fabien; Maragnes, Pascale; Delanne, Julian; Muller, Matthias; Coubes, Christine; Bredy, Charlene; Gouya, Laurent; Odent, Sylvie; Basquin, Adeline; Dupuis-Girod, Sophie; Barthelet, Martine; Ginglinger, Emmanuelle; Delobel, Bruno; Vaksmann, Guy; Alessandri, Jean-Luc; Arsac, Louis André; Thomas, Edouard; Julia, Sophie; Chesneau, Bertrand; Dulac, Yves; Callewaert, Bert; Loeys, Bart; Vaerle, Maxim; Menke, Leonie A; Groenink, Maarten; Ades, Lesley; Ballesta-Martinez, Maria Juliana; Shanske, Alan L; Tinschert, Sigrid; Gehle, Petra; Thauvin-Robinet, Christel; Eicher, Jean-Christophe; Falcon-Eicher, Sylvie; Boileau, Catherine; Binquet, Christine; Hanna, Nadine; Faivre, Laurence

Pitfalls in the Detection of Volatiles Associated with Heated Tobacco and e-Vapor Products When Using PTR-TOF-MS

使用质子转移反应飞行时间质谱法检测加热烟草和电子烟产品相关挥发性物质时存在的陷阱

Bielik, Noel; Correia, Daniela; Rodrigues Crespo, Kelly; Goujon-Ginglinger, Catherine; Mitova, Maya I

Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders

从医生和护理人员自我报告的两组DDX3X相关疾病数据中汲取的经验教训

Ruault, Valentin; Burger, Pauline; Gradels-Hauguel, Johanna; Ruiz, Nathalie; Jamra, Rami Abou; Afenjar, Alexandra; Alembik, Yves; Alessandri, Jean-Luc; Arpin, Stéphanie; Barcia, Giulia; Bendová, Šárka; Bruel, Ange-Line; Charles, Perrine; Chatron, Nicolas; Chopra, Maya; Conrad, Solène; Daire, Valérie Cormier; Cospain, Auriane; Coubes, Christine; Coursimault, Juliette; Delahaye-Duriez, Andrée; Doco, Martine; Dufour, William; Durand, Benjamin; Engel, Camille; Faivre, Laurence; Ferroul, Fanny; Fradin, Mélanie; Frenkiel, Hélène; Fusco, Carlo; Garavelli, Livia; Garde, Aurore; Gerard, Bénédicte; Germanaud, David; Goujon, Louise; Gouronc, Aurélie; Ginglinger, Emmanuelle; Goldenberg, Alice; Hancarova, Miroslava; Havlovicová, Markéta; Heron, Delphine; Isidor, Bertrand; Marçais, Nolwenn Jean; Keren, Boris; Koch-Hogrebe, Margarete; Kuentz, Paul; Lamure, Victoria; Lebre, Anne-Sophie; Lecoquierre, François; Lehman, Natacha; Lesca, Gaetan; Lyonnet, Stanislas; Martin, Delphine; Mignot, Cyril; Neuhann, Teresa M; Nicolas, Gaël; Nizon, Mathilde; Petit, Florence; Philippe, Christophe; Piton, Amélie; Pollazzon, Marzia; Prchalová, Darina; Putoux, Audrey; Rio, Marlène; Rondeau, Sophie; Rossi, Massimiliano; Sabbagh, Quentin; Saugier-Veber, Pascale; Schmetz, Ariane; Steffann, Julie; Thauvin-Robinet, Christel; Toutain, Annick; Them, Frederic Tran Mau; Trimarchi, Gabriele; Vincent, Marie; Vlčková, Markéta; Wieczorek, Dagmar; Willems, Marjolaine; Yauy, Kevin; Zelinová, Michaela; Ziegler, Alban; Chaumette, Boris; Sadikovic, Bekim; Mandel, Jean-Louis; Geneviève, David

ARF1-related disorder: phenotypic and molecular spectrum

ARF1相关疾病:表型和分子谱

de Sainte Agathe, Jean-Madeleine; Pode-Shakked, Ben; Naudion, Sophie; Michaud, Vincent; Arveiler, Benoit; Fergelot, Patricia; Delmas, Jean; Keren, Boris; Poirsier, Céline; Alkuraya, Fowzan S; Tabarki, Brahim; Bend, Eric; Davis, Kellie; Bebin, Martina; Thompson, Michelle L; Bryant, Emily M; Wagner, Matias; Hannibal, Iris; Lenberg, Jerica; Krenn, Martin; Wigby, Kristen M; Friedman, Jennifer R; Iascone, Maria; Cereda, Anna; Miao, Térence; LeGuern, Eric; Argilli, Emanuela; Sherr, Elliott; Caluseriu, Oana; Tidwell, Timothy; Bayrak-Toydemir, Pinar; Hagedorn, Caroline; Brugger, Melanie; Vill, Katharina; Morneau-Jacob, Francois-Dominique; Chung, Wendy; Weaver, Kathryn N; Owens, Joshua W; Husami, Ammar; Chaudhari, Bimal P; Stone, Brandon S; Burns, Katie; Li, Rachel; de Lange, Iris M; Biehler, Margaux; Ginglinger, Emmanuelle; Gérard, Bénédicte; Stottmann, Rolf W; Trimouille, Aurélien

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders

调控应激颗粒组装的基因中的新生变异与神经发育障碍相关

Xiangbin Jia ,Shujie Zhang ,Senwei Tan ,Bing Du ,Mei He ,Haisong Qin ,Jia Chen ,Xinyu Duan ,Jingsi Luo ,Fei Chen ,Luping Ouyang ,Jian Wang ,Guodong Chen ,Bin Yu ,Ge Zhang ,Zimin Zhang ,Yongqing Lyu ,Yi Huang ,Jian Jiao ,Jin Yun Helen Chen ,Kathryn J Swoboda ,Emanuele Agolini ,Antonio Novelli ,Chiara Leoni ,Giuseppe Zampino ,Gerarda Cappuccio ,Nicola Brunetti-Pierri ,Benedicte Gerard ,Emmanuelle Ginglinger ,Julie Richer ,Hugh McMillan ,Alexandre White-Brown ,Kendra Hoekzema ,Raphael A Bernier ,Evangeline C Kurtz-Nelson ,Rachel K Earl ,Claartje Meddens ,Marielle Alders ,Meredith Fuchs ,Roseline Caumes ,Perrine Brunelle ,Thomas Smol ,Ryan Kuehl ,Debra-Lynn Day-Salvatore ,Kristin G Monaghan ,Michelle M Morrow ,Evan E Eichler ,Zhengmao Hu ,Ling Yuan ,Jieqiong Tan ,Kun Xia ,Yiping Shen ,Hui Guo

Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine

原发性卵巢功能不全大型队列的遗传图谱:新基因和通路及其对个体化医疗的意义

Heddar, Abdelkader; Ogur, Cagri; Da Costa, Sabrina; Braham, Inès; Billaud-Rist, Line; Findikli, Necati; Beneteau, Claire; Reynaud, Rachel; Mahmoud, Khaled; Legrand, Stéphanie; Marchand, Maud; Cedrin-Durnerin, Isabelle; Cantalloube, Adèle; Peigne, Maeliss; Bretault, Marion; Dagher-Hayeck, Benedicte; Perol, Sandrine; Droumaguet, Celine; Cavkaytar, Sabri; Nicolas-Bonne, Carole; Elloumi, Hanen; Khrouf, Mohamed; Rougier-LeMasle, Charlotte; Fradin, Melanie; Le Boette, Elsa; Luigi, Perrine; Guerrot, Anne-Marie; Ginglinger, Emmanuelle; Zampa, Amandine; Fauconnier, Anais; Auger, Nathalie; Paris, Françoise; Brischoux-Boucher, Elise; Cabrol, Christelle; Brun, Aurore; Guyon, Laura; Berard, Melanie; Riviere, Axelle; Gruchy, Nicolas; Odent, Sylvie; Gilbert-Dussardier, Brigitte; Isidor, Bertrand; Piard, Juliette; Lambert, Laetitia; Hamamah, Samir; Guedj, Anne Marie; Brac de la Perriere, Aude; Fernandez, Hervé; Raffin-Sanson, Marie-Laure; Polak, Michel; Letur, Hélène; Epelboin, Sylvie; Plu-Bureau, Genevieve; Wołczyński, Sławomir; Hieronimus, Sylvie; Aittomaki, Kristiina; Catteau-Jonard, Sophie; Misrahi, Micheline

Investigation of solid particles in the mainstream aerosol of the Tobacco Heating System THS2.2 and mainstream smoke of a 3R4F reference cigarette

对烟草加热系统THS2.2主流气溶胶和3R4F参考卷烟主流烟雾中的固体颗粒进行研究

Pratte, P; Cosandey, S; Goujon Ginglinger, C

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

一种针对口腔遗传疾病分子诊断的靶向二代测序检测方法

Prasad, Megana K; Geoffroy, Véronique; Vicaire, Serge; Jost, Bernard; Dumas, Michael; Le Gras, Stéphanie; Switala, Marzena; Gasse, Barbara; Laugel-Haushalter, Virginie; Paschaki, Marie; Leheup, Bruno; Droz, Dominique; Dalstein, Amelie; Loing, Adeline; Grollemund, Bruno; Muller-Bolla, Michèle; Lopez-Cazaux, Séréna; Minoux, Maryline; Jung, Sophie; Obry, Frédéric; Vogt, Vincent; Davideau, Jean-Luc; Davit-Beal, Tiphaine; Kaiser, Anne-Sophie; Moog, Ute; Richard, Béatrice; Morrier, Jean-Jacques; Duprez, Jean-Pierre; Odent, Sylvie; Bailleul-Forestier, Isabelle; Rousset, Monique Marie; Merametdijan, Laure; Toutain, Annick; Joseph, Clara; Giuliano, Fabienne; Dahlet, Jean-Christophe; Courval, Aymeric; El Alloussi, Mustapha; Laouina, Samir; Soskin, Sylvie; Guffon, Nathalie; Dieux, Anne; Doray, Bérénice; Feierabend, Stephanie; Ginglinger, Emmanuelle; Fournier, Benjamin; de la Dure Molla, Muriel; Alembik, Yves; Tardieu, Corinne; Clauss, François; Berdal, Ariane; Stoetzel, Corinne; Manière, Marie Cécile; Dollfus, Hélène; Bloch-Zupan, Agnès

Dual function of the cytochrome P450 CYP76 family from Arabidopsis thaliana in the metabolism of monoterpenols and phenylurea herbicides

拟南芥细胞色素P450 CYP76家族在单萜醇和苯脲类除草剂代谢中的双重功能

Höfer, René; Boachon, Benoît; Renault, Hugues; Gavira, Carole; Miesch, Laurence; Iglesias, Juliana; Ginglinger, Jean-François; Allouche, Lionel; Miesch, Michel; Grec, Sebastien; Larbat, Romain; Werck-Reichhart, Danièle

Gene coexpression analysis reveals complex metabolism of the monoterpene alcohol linalool in Arabidopsis flowers

基因共表达分析揭示了拟南芥花中单萜醇芳樟醇的复杂代谢过程

Ginglinger, Jean-François; Boachon, Benoit; Höfer, René; Paetz, Christian; Köllner, Tobias G; Miesch, Laurence; Lugan, Raphael; Baltenweck, Raymonde; Mutterer, Jérôme; Ullmann, Pascaline; Beran, Franziska; Claudel, Patricia; Verstappen, Francel; Fischer, Marc J C; Karst, Francis; Bouwmeester, Harro; Miesch, Michel; Schneider, Bernd; Gershenzon, Jonathan; Ehlting, Jürgen; Werck-Reichhart, Danièle