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

Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases

新冠病毒感染对遗传性代谢疾病患者的影响:法国罕见病医疗网络 (IMDs Healthcare Network for Rare Diseases) 的一项全国多中心研究

Douillard, Claire; Poujois, Aurélia; Belmatoug, Nadia; Lidove, Olivier; Leguy-Seguin, Vanessa; Mauhin, Wladimir; Gorce, Magali; Cano, Aline; Labrune, Philippe; Mazodier, Karin; Wicker, Camille; Maillot, François; Brassier, Anaïs; Guemann, Anne-Sophie; Habes, Dalila; Abi-Warde, Marie-Thérèse; Redonnet-Vernhet, Isabelle; Germain, Dominique P; Lavigne, Christian; Khemiri, Azza; Mention, Karine; Dao, Myriam; Héron, Bénédicte; Berger, Marc G; Lonlay, Pascale de

Outcomes of medical management of miscarriage in an early pregnancy setting

早期妊娠流产的医疗管理结果

Elsayed, S; Gowran, J; Mention, N; Farah, N; Anglim, M; O'Higgins, A C

Relaxation Dynamics in Dihydroxychalcones: Insights from Ultrafast Spectroscopy and Quantum Computations

二羟基查尔酮的弛豫动力学:来自超快光谱和量子计算的启示

Roshan, Simin; Hymas, Michael; Mention, Matthieu M; Allais, Florent; Stavros, Vasilios G; Omidyan, Reza

Separation of sedimentary phytoliths from other biogenic silica particles for triple oxygen isotope analysis

将沉积植物硅酸体与其他生物成因二氧化硅颗粒分离,用于三重氧同位素分析

Mention, Charlotte; Aleman, Julie C; Mazur, Jean-Charles; Garcin, Yannick; Hély, Christelle; Alexandre, Anne

Genetic landscape of pediatric acute liver failure of indeterminate origin

儿童不明原因急性肝衰竭的遗传图谱

Lenz, Dominic; Schlieben, Lea D; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Rüdiger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan E; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Burnytė, Birutė; Calvo, Pier L; Crushell, Ellen; Dalgiç, Buket; Das, Anibh M; Dezsőfi, Antal; Distelmaier, Felix; Fichtner, Alexander; Freisinger, Peter; Garbade, Sven F; Gaspar, Harald; Goujon, Louise; Hadzic, Nedim; Hartleif, Steffen; Hegen, Bianca; Hempel, Maja; Henning, Stephan; Hoerning, Andre; Houwen, Roderick; Hughes, Joanne; Iorio, Raffaele; Iwanicka-Pronicka, Katarzyna; Jankofsky, Martin; Junge, Norman; Kanavaki, Ino; Kansu, Aydan; Kaspar, Sonja; Kathemann, Simone; Kelly, Deidre; Kirsaçlioğlu, Ceyda T; Knoppke, Birgit; Kohl, Martina; Kölbel, Heike; Kölker, Stefan; Konstantopoulou, Vassiliki; Krylova, Tatiana; Kuloğlu, Zarife; Kuster, Alice; Laass, Martin W; Lainka, Elke; Lurz, Eberhard; Mandel, Hanna; Mayerhanser, Katharina; Mayr, Johannes A; McKiernan, Patrick; McClean, Patricia; McLin, Valerie; Mention, Karine; Müller, Hanna; Pasquier, Laurent; Pavlov, Martin; Pechatnikova, Natalia; Peters, Bianca; Petković Ramadža, Danijela; Piekutowska-Abramczuk, Dorota; Pilic, Denisa; Rajwal, Sanjay; Rock, Nathalie; Roetig, Agnès; Santer, René; Schenk, Wilfried; Semenova, Natalia; Sokollik, Christiane; Sturm, Ekkehard; Taylor, Robert W; Tschiedel, Eva; Urbonas, Vaidotas; Urreizti, Roser; Vermehren, Jan; Vockley, Jerry; Vogel, Georg-Friedrich; Wagner, Matias; van der Woerd, Wendy; Wortmann, Saskia B; Zakharova, Ekaterina; Hoffmann, Georg F; Meitinger, Thomas; Murayama, Kei; Staufner, Christian; Prokisch, Holger

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

Recurrent "outsider" intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb

SLC5A6基因中反复出现的“外来”内含子变异导致来自马格里布地区的3个家族出现严重的混合性轴索性和脱髓鞘性神经病变、周期性呕吐和视神经萎缩。

Mansour-Hendili, Lamisse; Gitiaux, Cyril; Harion, Madeleine; Latouche, Céline; Heron, Bénédicte; Stojkovic, Tanya; Rama, Mélanie; Smol, Thomas; Sophie Jourdain, Anne; Mention, Karine; Nadjar, Yann; Schiff, Manuel; Lemale, Julie; Ghoumid, Jamal; Gottrand, Frédéric; Talbotec, Cécile; Rötig, Agnès; Funalot, Benoît; Desguerre, Isabelle

Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X

使用腺嘌呤碱基编辑和同源性独立的靶向整合策略来纠正引起囊性纤维化的变异 W1282X

Karen Mention, Kader Cavusoglu-Doran, Anya T Joynt, Lúcia Santos, David Sanz, Alice C Eastman, Christian Merlo, Elinor Langfelder-Schwind, Martina F Scallan, Carlos M Farinha, Garry R Cutting, Neeraj Sharma, Patrick T Harrison

From Biomass-Derived p-Hydroxycinnamic Acids to Novel Sustainable and Non-Toxic Phenolics-Based UV-Filters: A Multidisciplinary Journey

从生物质衍生的对羟基肉桂酸到新型可持续无毒酚类紫外线过滤剂:一段多学科探索之旅

Rioux, Benjamin; Combes, Jeanne; Woolley, Jack M; Rodrigues, Natércia D N; Mention, Matthieu M; Stavros, Vasilios G; Allais, Florent

Intravenous administration of a branched-chain amino-acid-free solution in children and adults with acute decompensation of maple syrup urine disease: a prospective multicentre observational study

对患有枫糖尿症急性失代偿的儿童和成人进行静脉注射不含支链氨基酸的溶液:一项前瞻性多中心观察研究

Alili, Jean-Meidi; Berleur, Marie-Pierre; Husson, Marie-Caroline; Mention, Karine; Schiff, Manuel; Arnoux, Jean-Baptiste; Brassier, Anaïs; Guemman, Anne-Sophie; Grisel, Coraline; Dubois, Sandrine; Abi-Wardé, Marie-Thérèse; Broissand, Christine; Servais, Aude; Dao, Myriam; de Lonlay, Pascale