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

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies

CHD3相关Snijders-Blok-Campeau综合征表观遗传特征的鉴定揭示了CHARGE综合征表观遗传特征的异质性:朝着更好地表征染色质病变迈进

Santini, Amandine; Tognon, Angelo; Richard, Anne-Claire; Velasco, Guillaume; Phan, Gilles; Marzin, Pauline; Maury, Fabien; May, Angele; Michot, Caroline; Chirita-Emandi, Adela; Saraiva, Jorge M; Ballesta-Martinez, Maria Juliana; Lyonnet, Stanislas; Sansović, Ivona; Barakat, Tahsin Stefan; Brunelle, Perrine; Ghoumid, Jamal; Le Guillou, Xavier; Le Tanno, Pauline; Willems, Marjolaine; Zenker, Martin; Schanze, Ina; Moortgat, Stéphanie; Isidor, Bertrand; Paulet, Alix; Yeung, Alison; Levy, Jonathan; Ruscitti, Federica; Pias-Peleteiro, Leticia; Rio, Marlène; Courtin, Thomas; Abdallah, Hamza Hadj; Ducreux, Stéphanie; Laloy, Jean-Sérène; Rollier, Paul; Guerrot, Anne-Marie; Chatron, Nicolas; Demurger, Florence; Goldenberg, Alice; Delanne, Julian; Faivre, Laurence; Lecoquierre, François; Nicolas, Gaël; Coussement, Aurélie; Collet, Corinne; Herenger, Yvan; Defrance, Matthieu; Cormier-Daire, Valérie; Charbonnier, Camille; de Dieuleveult, Maud

Resolving non‑coding splice‑altering variants using an integrative genomic and transcriptomic workflow: application to FOXP1

利用整合基因组学和转录组学工作流程解析非编码剪接改变变异:以FOXP1为例

Planté-Bordeneuve, Pauline; Jourdain, Anne-Sophie; Thuillier, Caroline; Caux, Aurélien; Tessarech, Marine; Meneboo, Jean-Pascal; Ait-Yahya, Emilie; Costantini, Sara; Brunelle, Perrine; Smol, Thomas

Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical management

扩大导致复杂性痉挛性截瘫的HACE1功能缺失变异谱:文献综述及临床管理建议

Yousaf, Hammad; Ali, Sajid; Moulvi, Ahad Yousuf; Khalid, Lubaba Bintee; Javed, Iram; Ghumman, Rafia Zafar; Colson, Cindy; Ibrahim, Shahnaz; Zia, Salma; Khan, Muhammad Musawer; Brunelle, Perrine; Trujillo-Quintero, Juan Pablo; Ruiz, Anna; Kirmani, Salman; Houlden, Henry; Toft, Mathias; Fatima, Ambrin; Iqbal, Zafar

The role of MRI in detection and staging of upper urinary tract cancer: a systematic review of the literature

磁共振成像在检测和分期上尿路癌中的作用:文献系统综述

Manceau, Cécile; Bento, Lucas; Brunelle, Serge; Prudhomme, Thomas; Bajeot, Anne Sophie; Game, Xavier; Soulie, Michel; Delchier, Marie Charlotte; Mokrane, Fatima-Zohra; Roumiguié, Mathieu

Understanding drivers of neonatal mortality in Zimbabwe: A machine learning approach using survey data

利用调查数据通过机器学习方法了解津巴布韦新生儿死亡率的驱动因素

Mbinda, Absolom; Kananura, Rornald Muhumuza; Sandie, Arsene Brunelle; Makurumidze, Richard; Amouzou, Agbessi

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort

米勒综合征的表型谱:来自法国队列研究的启示

Aubert Mucca, Marion; Brunelle, Perrine; Doco Fenzy, Martine; Vanlerberghe, Clémence; Dieux, Anne; Feyereisen, Laura; Jobic, Florence; Lode, Laurence; Le Guyader, Gwenael; Petit, Florence; Schaefer, Elise; Zaafrane-Khachnaoui, Khaoula; Ziegler, Alban; Patat, Olivier

Determination and Confirmation of Psychedelic and Psychoactive Compounds in Botanical Materials by UPLC-ESI-MS/MS: Single-Laboratory Validation

利用超高效液相色谱-电喷雾串联质谱法测定和确认植物材料中的迷幻和精神活性化合物:单实验室验证

French, Torey; Fontana, Anthony J; LaBudde, Robert; Brunelle, Sharon L; Sudberg, Sidney

Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature

Townes-Brocks综合征:我们病例系列及文献中SALL1变异的基因型-表型相关性

Leduc, Fiona; Brunelle, Perrine; Escande, Fabienne; Ramdane, Nassima; Bellengier, Laurence; Giacomello, Léa; Lefevre, Christine; Mezel, Aurélie; Samaille, Charlotte; Sfeir, Rony; Toulemonde, Philippine; Manouvrier-Hanu, Sylvie; Vincent-Delorme, Catherine; Petit, Florence; Vanlerberghe, Clémence

Barriers and facilitators to safer supply pilot program implementation in Canada: a qualitative assessment of service provider perspectives

加拿大安全供应链试点项目实施的障碍和促进因素:服务提供者视角的定性评估

Nafeh, Frishta; Martignetti, Lucas; Strike, Carol; Kolla, Gillian; Bonn, Matthew; Brunelle, Caroline; Boyd, Jade; Hyshka, Elaine; Morris, Cassidy; Eeuwes, Jolene; Hobbs, Heather; Haywood, Elizabeth; Pauly, Bernadette; Werb, Dan; Karamouzian, Mohammad

Creating a Nutrient-Dense Menu Using Foods Consumed by Native Communities in the Northern Great Plains Prior to 1851 for Use in Dietary Intervention Trial

利用1851年以前北部大平原原住民社区食用的食物,创建营养丰富的菜单,用于膳食干预试验

Hess, Julie M; Bourboun, Jacob D; Comeau, Madeline E; Froelich, Brooke; Fossum, Debra; Scheett, Angela; Kitzes, Edwin; Baker-Ramsey, Tiffany; Brunelle, Dale C; Roemmich, James N