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

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

ACTL6B相关常染色体隐性和显性遗传性脑发育障碍的临床和遗传学特征

Cali, Elisa; Quirin, Tania; Rocca, Clarissa; Efthymiou, Stephanie; Riva, Antonella; Marafi, Dana; Zaki, Maha S; Suri, Mohnish; Dominguez, Roberto; Elbendary, Hasnaa M; Alavi, Shahryar; Abdel-Hamid, Mohamed S; Morsy, Heba; Mau-Them, Frederic Tran; Nizon, Mathilde; Tesner, Pavel; Ryba, Lukáš; Zafar, Faisal; Rana, Nuzhat; Saadi, Nebal W; Firoozfar, Zahra; Gencpinar, Pinar; Unay, Bulent; Ustun, Canan; Bruel, Ange-Line; Coubes, Christine; Stefanich, Jennifer; Sezer, Ozlem; Agolini, Emanuele; Novelli, Antonio; Vasco, Gessica; Lettori, Donatella; Milh, Mathieu; Villard, Laurent; Zeidler, Shimriet; Opperman, Henry; Strehlow, Vincent; Issa, Mahmoud Y; El Khassab, Hebatallah; Chand, Prem; Ibrahim, Shahnaz; Rashidi-Nezhad, Ali; Miryounesi, Mohammad; Larki, Pegah; Morrison, Jennifer; Cristian, Ingrid; Thiffault, Isabelle; Bertsch, Nicole L; Noh, Grace J; Pappas, John; Moran, Ellen; Marinakis, Nikolaos M; Traeger-Synodinos, Joanne; Hosseini, Susan; Abbaszadegan, Mohammad Reza; Caumes, Roseline; Vissers, Lisenka E L M; Neshatdoust, Maedeh; Montazer Zohour, Mostafa; El Fahime, Elmostafa; Canavati, Christina; Kamal, Lara; Kanaan, Moien; Askander, Omar; Voinova, Victoria; Levchenko, Olga; Haider, Shahzhad; Halbach, Sara S; Elias Maia, Rayana; Mansoor, Salehi; Jain, Vivek; Tawde, Sanjukta; Challa, Viveka Santhosh R; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Victor, Lucas Alves; Pinero-Banos, Benito; Hague, Jennifer; ElAwady, Heba Ahmed; Maria de Miranda Henriques-Souza, Adelia; Cheema, Huma Arshad; Anjum, Muhammad Nadeem; Idkaidak, Sara; Alqarajeh, Firas; Atawneh, Osama; Mor-Shaked, Hagar; Harel, Tamar; Zifarelli, Giovanni; Bauer, Peter; Kok, Fernando; Kitajima, Joao Paulo; Monteiro, Fabiola; Josahkian, Juliana; Lesca, Gaetan; Chatron, Nicolas; Ville, Dorothe; Murphy, David; Neul, Jeffrey L; Mullegama, Sureni V; Begtrup, Amber; Herman, Isabella; Mitani, Tadahiro; Posey, Jennifer E; Tay, Chee Geap; Javed, Iram; Carr, Lucinda; Kanani, Farah; Beecroft, Fiona; Hane, Lee; Abdelkreem, Elsayed; Macek, Milan; Bispo, Luciana; Elmaksoud, Marwa Abd; Hashemi-Gorji, Farzad; Pehlivan, Davut; Amor, David J; Jamra, Rami Abou; Chung, Wendy K; Ghayoor Karimiani, Eshan; Campeau, Philippe M; Alkuraya, Fowzan S; Pagnamenta, Alistair T; Gleeson, Joseph G; Lupski, James R; Striano, Pasquale; Moreno-De-Luca, Andres; Lafontaine, Denis L J; Houlden, Henry; Maroofian, Reza

A Novel Loss-of-Function Variant in COL4A3 in a Consanguineous Moroccan Family Displaying the Alport Syndrome with Variable Clinical Expression

在摩洛哥一个近亲结婚的家庭中发现一种新的COL4A3功能缺失变异,该变异导致阿尔波特综合征的临床表现多样。

Taroua, Oumayma; Askander, Omar; Rhou, Hakima; Bouhouche, Ahmed

Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders

SEL1L-HRD1 ER 相关降解的低活性变异体与神经发育障碍有关。

Huilun H Wang ,Liangguang L Lin ,Zexin J Li ,Xiaoqiong Wei ,Omar Askander ,Gerarda Cappuccio ,Mais O Hashem ,Laurence Hubert ,Arnold Munnich ,Mashael Alqahtani ,Qi Pang ,Margit Burmeister ,You Lu ,Karine Poirier ,Claude Besmond ,Shengyi Sun ,Nicola Brunetti-Pierri ,Fowzan S Alkuraya ,Ling Qi

Prevalence of the protective OAS1 rs10774671-G allele against severe COVID-19 in Moroccans: implications for a North African Neanderthal connection

摩洛哥人中针对严重 COVID-19 的保护性 OAS1 rs10774671-G 等位基因的流行情况:与北非尼安德特人联系的暗示

Fatima Zahra El Yousfi, Abbas Ermilo Haroun, Chaimae Nebhani, Jihane Belayachi, Omar Askander, Elmostafa El Fahime, Hakima Fares, Khalid Ennibi, Redouane Abouqal, Rachid Razine, Ahmed Bouhouche

Novel ITGB2 Mutation Is Responsible for a Severe Form of Leucocyte Adhesion Deficiency Type 1

一种新的ITGB2基因突变是导致严重型白细胞黏附缺陷1型的原因

Bouhouche, Ahmed; Tabache, Yasmin; Askander, Omar; Charoute, Hicham; Mesnaoui, Nada; Belayachi, Lamiae; El Hafidi, Naima; Hardizi, Houyam; El Fahime, Elmostafa; Erreimi, Naima; Barakat, Abdelhamid; Khattab, Mohammed; Seghrouchni, Fouad; El Hassani, Amine

Coding-Complete Sequence of a SARS-CoV-2 Strain from an Omicron (B.1.1.529+BA.1) Variant Detected in Morocco

在摩洛哥检测到的Omicron (B.1.1.529+BA.1)变异株SARS-CoV-2毒株的完整编码序列

Chouati, Taha; Hemlali, Mouhssine; Melloul, Marouane; Alaoui-Amine, Sanaa; Rhoulam, Safae; Ghamaz, Hamza; Ouarab, Maha; Askander, Omar; Belayachi, Lamiae; Touil, Nadia; El Mchichi, Bouchra; Elannaz, Hicham; Laraqui, Abdelillah; Elouennass, Mostafa; Ennibi, Khalid; El Fahime, Elmostafa