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

The evolution of health data ecosystems: An international survey

健康数据生态系统的演变:一项国际调查

Lerner-Ellis, Jordan P; Price, E Magda; Subhani, Shazia; Boughtwood, Tiffany; Brion, Marie-Jo; Rendon, Augusto; Cividanes, Lene; Gemmer, Jacob; Ciofani, Danielle; Bertin, Nicolas; Wee, Seow Shih; Robertson, Stephen; Baz, Batoul; Crameri, Katrin; Österle, Sabine; Wirta, Valtteri; Sikora, Per; Lindstrand, Anna; Nowak, Frédérique; Amado, Inês; Mulder, Nicola Jane; Ganna, Andrea; Goodhand, Peter; Smith, Lindsay D; Marshall, Christian R; Zawati, Ma'n; Ferretti, Vincent; Michaud, Jacques L; Bulman, Dennis; Bernier, Francois; Boycott, Kym M

Retropharyngeal haematoma with subtotal upper airway obstruction after puncture attempt: a case report

穿刺尝试后出现咽后血肿并伴有上呼吸道次全梗阻:病例报告

Mallick, Jeanne; Guillot, Max; Castelain, Vincent; Michaud, Antonin

Functional Characterization of Splice Variants in the Diagnosis of Albinism

白化病诊断中剪接变异体的功能表征

Modibo Diallo,Cécile Courdier,Elina Mercier,Angèle Sequeira,Alicia Defay-Stinat,Claudio Plaisant,Shahram Mesdaghi,Daniel Rigden,Sophie Javerzat,Eulalie Lasseaux,Laetitia Bourgeade,Séverine Audebert-Bellanger,Hélène Dollfus,Smail Hadj-Rabia,Fanny Morice-Picard,Manon Philibert,Mohamed Kole Sidibé,Vasily Smirnov,Ousmane Sylla,Vincent Michaud,Benoit Arveiler

Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center

参考中心跟踪的眼皮肤白化病患者的眼科表型-基因型相关性

Paul-Henri Seguy, Jean-François Korobelnik, Marie-Noëlle Delyfer, Vincent Michaud, Benoit Arveiler, Eulalie Lasseaux, Sarra Gattoussi, Marie-Bénédicte Rougier, Kilian Trin, Fanny Morice-Picard, Nathalie Ghomashchi, Valentine Coste

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

AGO1 基因中的新生编码变异会导致神经发育障碍和智力障碍

Audrey Schalk #, Margot A Cousin #, Nikita R Dsouza, Thomas D Challman, Karen E Wain, Zoe Powis, Kelly Minks, Aurélien Trimouille, Eulalie Lasseaux, Didier Lacombe, Chloé Angelini, Vincent Michaud, Julien Van-Gils, Nino Spataro, Anna Ruiz, Elizabeth Gabau, Elliot Stolerman, Camerun Washington, Ray L

BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome

BLOC1S5 致病变异导致一种新型 Hermansky-Pudlak 综合征

Perrine Pennamen, Linh Le, Angèle Tingaud-Sequeira, Mathieu Fiore, Anne Bauters, Nguyen Van Duong Béatrice, Valentine Coste, Jean-Claude Bordet, Claudio Plaisant, Modibo Diallo, Vincent Michaud, Aurélien Trimouille, Didier Lacombe, Eulalie Lasseaux, Cédric Delevoye, Fanny Morice Picard, Bruno Delobe