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

Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective

扩展X连锁Tonne-Kalscheuer综合征(TOKAS)的临床谱:来自胎儿视角的新见解

Cuinat, Silvestre; Quélin, Chloé; Effray, Claire; Dubourg, Christèle; Le Bouar, Gwenaelle; Cabaret-Dufour, Anne-Sophie; Loget, Philippe; Proisy, Maia; Sauvestre, Fanny; Sarreau, Mélie; Martin-Berenguer, Sophie; Beneteau, Claire; Naudion, Sophie; Michaud, Vincent; Arveiler, Benoit; Trimouille, Aurélien; Macé, Pierre; Sigaudy, Sabine; Glazunova, Olga; Torrents, Julia; Raymond, Laure; Saint-Frison, Marie-Hélène; Attié-Bitach, Tania; Lefebvre, Mathilde; Capri, Yline; Bourgon, Nicolas; Thauvin-Robinet, Christel; Tran Mau-Them, Frédéric; Bruel, Ange-Line; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Faivre, Laurence; Brehin, Anne-Claire; Goldenberg, Alice; Patrier-Sallebert, Sophie; Perani, Alexandre; Dauriat, Benjamin; Bourthoumieu, Sylvie; Yardin, Catherine; Marquet, Valentine; Barnique, Marion; Fiorenza-Gasq, Maryse; Marey, Isabelle; Tournadre, Danielle; Doumit, Raïa; Nugues, Frédérique; Barakat, Tahsin Stefan; Bustos, Francisco; Jaillard, Sylvie; Launay, Erika; Pasquier, Laurent; Odent, Sylvie

Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder

MAN2C1 变异导致游离寡糖分解代谢受损,从而引发神经发育障碍

Nuno Maia, Sven Potelle, Hamide Yildirim, Sandrine Duvet, Shyam K Akula, Celine Schulz, Elsa Wiame, Alexander Gheldof, Katherine O'Kane, Abbe Lai, Karen Sermon, Maïa Proisy, Philippe Loget, Tania Attié-Bitach, Chloé Quelin, Ana Maria Fortuna, Ana Rita Soares, Arjan P M de Brouwer, Emile Van Schaftin

Changes in brain perfusion in successive arterial spin labeling MRI scans in neonates with hypoxic-ischemic encephalopathy

新生儿缺氧缺血性脑病连续动脉自旋标记磁共振成像扫描中脑灌注的变化

Proisy, Maïa; Corouge, Isabelle; Legouhy, Antoine; Nicolas, Amélie; Charon, Valérie; Mazille, Nadia; Leroux, Stéphanie; Bruneau, Bertrand; Barillot, Christian; Ferré, Jean-Christophe

Brain Perfusion Imaging in Neonates: An Overview

新生儿脑灌注成像:概述

Proisy, M; Mitra, S; Uria-Avellana, C; Sokolska, M; Robertson, N J; Le Jeune, F; Ferré, J-C