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

Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing

在摩洛哥实施肌营养不良症分级基因检测策略:从靶向检测到外显子组测序

Rahmuni, Yasmina; Ratbi, Ilham; Lyahyai, Jaber; Jaouad, Imane Cherkaoui; Batta, Ourayna; Sbiti, Aziza; Sahli, Maryem; Askander, Omar; Rchiad, Zineb; Sefiani, Abdelaziz

Creation and Validation of the Major Pediatric Mitochondrial Cytopathies Minimum Data Set: Consensus from a Moroccan-Tunisian Delphi Study

建立和验证主要儿童线粒体细胞病最小数据集:摩洛哥-突尼斯德尔菲研究的共识

El Guessabi, Sara; Belayachi, Jihane; Ben Youssef Turki, Ilhem; Kraoua, Ichraf; Galai, Said; Lachraf, Hind; Ratbi, Ilham; Abouqal, Redouane; Kriouile, Yamna

A maternally derived complex small supernumerary marker chromosome involving chromosomes 8 and 14: case report and review of the literature

母源性复杂小型超数标记染色体(涉及8号和14号染色体):病例报告及文献综述

Ouboukss, Fatima; El Amrani, Zhour; Bouchahta, Hicham; Ratbi, Ilham; Sbiti, Aziza; Liehr, Thomas; Sefiani, Abdelaziz; Natiq, Abdelhafid

Genome and Epigenome Disorders and Male Infertility: Feedback from 15 Years of Clinical and Research Experience

基因组和表观基因组疾病与男性不育:15 年临床和研究经验的反馈

Montjean, Debbie; Beaumont, Marion; Natiq, Abdelhafid; Louanjli, Noureddine; Hazout, Andre; Miron, Pierre; Liehr, Thomas; Cabry, Rosalie; Ratbi, Ilham; Benkhalifa, Moncef

Currarino Syndrome in Two Moroccan Siblings with Inherited 7q36 Deletion due to Maternal t(7;21)(q36;p11)mat: A Case Report

两名摩洛哥兄妹因母系t(7;21)(q36;p11)mat易位导致7q36缺失而患上库拉里诺综合征:病例报告

El Amrani, Zhour; Natiq, Abdelhafid; Sbiti, Aziza; Ratbi, Ilham; Liehr, Thomas; Sefiani, Abdelaziz; Sahli, Maryem

Two Moroccan Families with Emery-Dreifuss Muscular Dystrophy and Report of a Novel LMNA Pathogenic Variant

两例摩洛哥埃默里-德雷福斯肌营养不良症家族病例报告及一种新型LMNA致病变异

Rahmuni, Yasmina; El Kadiri, Youssef; Lyahyai, Jaber; Birouk, Nezha; Nesnassi, Mounir; Sefiani, Abdelaziz; Ratbi, Ilham

Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report

最初误诊为药物致畸性的特拉切尔-柯林斯综合征:一例摩洛哥病例报告

Lamzouri, A; El Rherbi, A; Ratbi, I; Laarabi, F Z; Chahboune, R; Elalaoui, S C; Hamdaoui, H; Bencheikh, R S; Sefiani, A

Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature

摩洛哥先天性肌无力综合征患者 COLQ 基因新拷贝数变异:病例报告及文献综述

Youssef El Kadiri, Ilham Ratbi, Abdelaziz Sefiani, Jaber Lyahyai

Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

编码 VEGF 受体 2 的 KDR 基因的罕见变异与法洛四联症相关。

Škorić-Milosavljević, Doris; Lahrouchi, Najim; Bosada, Fernanda M; Dombrowsky, Gregor; Williams, Simon G; Lesurf, Robert; Tjong, Fleur V Y; Walsh, Roddy; El Bouchikhi, Ihssane; Breckpot, Jeroen; Audain, Enrique; Ilgun, Aho; Beekman, Leander; Ratbi, Ilham; Strong, Alanna; Muenke, Maximilian; Heide, Solveig; Muir, Alison M; Hababa, Mariam; Cross, Laura; Zhou, Dihong; Pastinen, Tomi; Zackai, Elaine; Atmani, Samir; Ouldim, Karim; Adadi, Najlae; Steindl, Katharina; Rauch, Anita; Brook, David; Wilsdon, Anna; Kuipers, Irene; Blom, Nico A; Mulder, Barbara J; Mefford, Heather C; Keren, Boris; Joset, Pascal; Kruszka, Paul; Thiffault, Isabelle; Sheppard, Sarah E; Roberts, Amy; Lodder, Elisabeth M; Keavney, Bernard D; Clur, Sally-Ann B; Mital, Seema; Hitz, Marc-Philip; Christoffels, Vincent M; Postma, Alex V; Bezzina, Connie R

Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

更正:KDR基因(编码VEGF受体2)的罕见变异与法洛四联症相关

Škorić-Milosavljević, Doris; Lahrouchi, Najim; Bosada, Fernanda M; Dombrowsky, Gregor; Williams, Simon G; Lesurf, Robert; Tjong, Fleur V Y; Walsh, Roddy; El Bouchikhi, Ihssane; Breckpot, Jeroen; Audain, Enrique; Ilgun, Aho; Beekman, Leander; Ratbi, Ilham; Strong, Alanna; Muenke, Maximilian; Heide, Solveig; Muir, Alison M; Hababa, Mariam; Cross, Laura; Zhou, Dihong; Pastinen, Tomi; Zackai, Elaine; Atmani, Samir; Ouldim, Karim; Adadi, Najlae; Steindl, Katharina; Rauch, Anita; Brook, David; Wilsdon, Anna; Kuipers, Irene; Blom, Nico A; Mulder, Barbara J; Mefford, Heather C; Keren, Boris; Joset, Pascal; Kruszka, Paul; Thiffault, Isabelle; Sheppard, Sarah E; Roberts, Amy; Lodder, Elisabeth M; Keavney, Bernard D; Clur, Sally-Ann B; Mital, Seema; Hitz, Marc-Philip; Christoffels, Vincent M; Postma, Alex V; Bezzina, Connie R