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

Idiopathic Pulmonary Fibrosis: A Comprehensive Review of Risk Factors, Genetics, Diagnosis, and Therapeutic Approaches

特发性肺纤维化:风险因素、遗传学、诊断和治疗方法的全面综述

Senhaji, Lamiyae; Senhaji, Nadia; Abbassi, Meriame; Karhate, Mariem; Serraj, Mounia; El Biaze, Mohammed; Benjelloun, Mohamed Chakib; Ouldim, Karim; Bouguenouch, Laila; Amara, Bouchra

First combined analysis of SMN1, SMN2, and NAIP copy numbers in Moroccan SMA patients and their correlation with disease severity

首次对摩洛哥脊髓性肌萎缩症(SMA)患者的SMN1、SMN2和NAIP拷贝数进行联合分析,并探讨其与疾病严重程度的相关性

Nmer, Samira; Trhanint, Said; Sayel, Hanane; Chaouki, Sana; Bouguenouch, Laila; Ouldim, Karim

Whole Exome Sequencing Identifies Novel Homozygous LGI1 Variant Mimicking ADAM22-Related Pathologies in a Moroccan Family

全外显子组测序在摩洛哥一个家族中发现了一种新的纯合LGI1变异,该变异模拟了ADAM22相关病理。

El Mouhi, Hinde; Elmakhzen, Badreddine; Bouyahyaoui, Amina; Hida, Mustapha; Ouldim, Karim; Bouguenouch, Laila; Chaouki, Sana

Exploring Splice-Site Mutations in LAMA2-Related Muscular Dystrophies: A Comprehensive Analysis of Genotypic and Phenotypic Patterns

探索 LAMA2 相关肌营养不良症中的剪接位点突变:基因型和表型模式的综合分析

Samira Nmer, Amina Ameli, Said Trhanint, Sana Chaouki, Laila Bouguenouch, Karim Ouldim

Rare and Atypical Case of Turner Syndrome With Three Cell Lines

罕见且非典型的特纳综合征病例,涉及三种细胞系

Essouabni, Amal; Ahakoud, Mohamed; Aynaou, Hayat; Bouguenouch, Laila; Salhi, Houda; Karim, Ouldim; Elouahabi, Hanan

The Diagnosis and Genetic Mechanisms of Prader-Willi Syndrome: Findings From a Moroccan Population Study

普拉德-威利综合征的诊断和遗传机制:来自摩洛哥人口研究的结果

Mohamed Ahakoud, Hanae Daha Belghiti, Ayoub Nedbour, Abdelhamid Bouramtane, Sana Chaouki, Laila Bouguenouch, Karim Ouldim

Molecular classification of soft tissue sarcomas for adequate diagnosis: A study on the northeast population of Morocco

软组织肉瘤的分子分型及其在准确诊断中的应用:一项针对摩洛哥东北部人群的研究

El Koubaiti, Rhizlane; Mazti, Asmae; Maaroufi, Mustapha; El Idrissi, Mohammed; El Ibrahimi, Abdelhalim; El Mrini, Abdelmajid; Bouhafa, Touria; El Fakir, Samira; Ouldim, Karim; Arifi, Samia; Chbani, Laila

Review of prostate cancer genomic studies in Africa

非洲前列腺癌基因组研究综述

Samtal, Chaimae; El Jaddaoui, Islam; Hamdi, Salsabil; Bouguenouch, Laila; Ouldim, Karim; Nejjari, Chakib; Ghazal, Hassan; Bekkari, Hicham

Detection of a new deleterious SGCE gene variant in Moroccan family with inherited myoclonus-dystonia

在摩洛哥一个患有遗传性肌阵挛-肌张力障碍的家族中检测到一种新的有害SGCE基因变异

Chbel, Faiza; Charroute, Hicham; Boulouiz, Redouane; Hamdaoui, Hasna; Mossafa, Houssein; Benrahma, Houda; Ouldim, Karim

Molecular and clinical assessment of maturity-onset diabetes of the young revealed low mutational rate in Moroccan families

对摩洛哥家族中青年起病型糖尿病的分子和临床评估显示,该家族的突变率较低。

Trhanint, Said; Bouguenouch, Laila; Abourazzak, Sana; El Ouahabi, Hanan; Latrech, Hanane; Benyakhlef, Salma; Bennani, Bahia; El Bouchikhi, Ihssane; Moufid, Fatima Zahra; Ouldim, Karim; El Ghadraoui, Lahsen; Maazouzi, Nadia