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

The Genetic and Molecular Analyses of Rare Candidate Germline BRIP1/FANCJ Variants Implicated in Hereditary Breast and Ovarian Cancers.

与遗传性乳腺癌和卵巢癌有关的罕见候选种系 BRIP1/FANCJ 变异的遗传和分子分析。

Alenezi Wejdan M, Milano Larissa, Fierheller Caitlin T, Serruya Corinne, Revil Timothée, Oros Kathleen K, Bruce Jeffrey P, Spiegelman Dan, Pugh Trevor, Mes-Masson Anne-Marie, Provencher Diane, Foulkes William D, El Haffaf Zaki, Rouleau Guy, Bouchard Luigi, Greenwood Celia M T, Ragoussis Jiannis, Masson Jean-Yves, Tonin Patricia N

Latent-profile analysis of sleep disturbances, cognitive performance and neuropsychiatric symptoms reveals subtypes of Parkinson's disease

对睡眠障碍、认知功能和神经精神症状进行潜在类别分析,揭示了帕金森病的亚型

El Haffaf, Lyna Mariam; Domellöf, Magdalena Eriksson; Ronat, Lucas; Monchi, Oury; Walton, Lois; Bäckström, David; Boraxbekk, Carl-Johan; Forsgren, Lars; Nyberg, Lars; Neely, Anna Stigsdotter; Johansson, Jarkko

Diagnostic Accuracy of Clinical Manifestations in Identifying People With Tuberous Sclerosis Complex

临床表现对结节性硬化症患者的诊断准确性

Li, Jimmy; El Haffaf, Zaki; Lattouf, Jean-Baptiste; Major, Philippe; Keezer, Mark Robert

PMS2 c.2117del (p.Lys706Serfs*19) is the Most Frequent Cancer-Associated Founder Pathogenic Variant in the French-Canadian Population of Quebec, Canada

PMS2 c.2117del (p.Lys706Serfs*19) 是加拿大魁北克省法裔人群中最常见的与癌症相关的创始致病变异。

Chong, Anne-Laure; Mejia-Garcia, Alejandro; Behl, Supriya; El Haffaf, Zaki; Chénier, Sébastien; Maranda, Bruno; Désilets, Valérie; Lévesque, Sébastien; Castonguay, Lysanne; Mes-Masson, Anne-Marie; Giroux, Sylvie; Rousseau, François; Hamel, Nancy; Chong, George; Gravel, Simon; Foulkes, William D

Towards model-informed precision dosing of piperacillin: multicenter systematic external evaluation of pharmacokinetic models in critically ill adults with a focus on Bayesian forecasting

基于模型指导的哌拉西林精准给药:以贝叶斯预测为重点的危重成人药代动力学模型多中心系统性外部评价

Greppmair, Sebastian; Brinkmann, Alexander; Roehr, Anka; Frey, Otto; Hagel, Stefan; Dorn, Christoph; Marsot, Amélie; El-Haffaf, Ibrahim; Zoller, Michael; Saller, Thomas; Zander, Johannes; Schatz, Lea Marie; Scharf, Christina; Briegel, Josef; Minichmayr, Iris K; Wicha, Sebastian G; Liebchen, Uwe

Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene

FANCI(一种拟议的卵巢癌易感基因)的分子遗传特征

Fierheller, Caitlin T; Alenezi, Wejdan M; Serruya, Corinne; Revil, Timothée; Amuzu, Setor; Bedard, Karine; Subramanian, Deepak N; Fewings, Eleanor; Bruce, Jeffrey P; Prokopec, Stephenie; Bouchard, Luigi; Provencher, Diane; Foulkes, William D; El Haffaf, Zaki; Mes-Masson, Anne-Marie; Tischkowitz, Marc; Campbell, Ian G; Pugh, Trevor J; Greenwood, Celia M T; Ragoussis, Jiannis; Tonin, Patricia N

Atypical ADPKD Due to a DNAJB11 Pathogenic Variant: An Educational Case Report

由DNAJB11致病变异引起的非典型ADPKD:一例教育性病例报告

Kachmar, Jessica; El-Haffaf, Zaki; Bollée, Guillaume

Case Review: Whole-Exome Sequencing Analyses Identify Carriers of a Known Likely Pathogenic Intronic BRCA1 Variant in Ovarian Cancer Cases Clinically Negative for Pathogenic BRCA1 and BRCA2 Variants

病例回顾:全外显子组测序分析在临床检测未发现致病性BRCA1和BRCA2变异的卵巢癌病例中,鉴定出已知可能致病的BRCA1内含子变异携带者

Alenezi, Wejdan M; Fierheller, Caitlin T; Revil, Timothée; Serruya, Corinne; Mes-Masson, Anne-Marie; Foulkes, William D; Provencher, Diane; El Haffaf, Zaki; Ragoussis, Jiannis; Tonin, Patricia N

Amyloid Deposits in a Functionally Unicuspid Stenotic Aortic Valve

功能性单瓣狭窄主动脉瓣中的淀粉样蛋白沉积

Zenses, Anne-Sophie; Leduc, Charles; Béchard, Stéphanie; Forcillo, Jessica; El Haffaf, Zaki; Do, Quoc-Bao; Pibarot, Philippe; Tournoux, François

The Genetic and Molecular Analyses of RAD51C and RAD51D Identifies Rare Variants Implicated in Hereditary Ovarian Cancer from a Genetically Unique Population

RAD51C 和 RAD51D 的基因和分子分析从遗传独特的群体中识别出与遗传性卵巢癌有关的罕见变异

Wejdan M Alenezi, Larissa Milano, Caitlin T Fierheller, Corinne Serruya, Timothée Revil, Kathleen K Oros, Supriya Behl, Suzanna L Arcand, Porangana Nayar, Dan Spiegelman, Simon Gravel, Anne-Marie Mes-Masson, Diane Provencher, William D Foulkes, Zaki El Haffaf, Guy Rouleau, Luigi Bouchard, Celia M T