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

Ccdc57 regulates cilia and left-right patterning in Xenopus.

Ccdc57 调控非洲爪蟾的纤毛和左右模式形成。

Yang Binyi, Mis Emily K, Zhou Xianglin, Aslam Faiza, He Jie, Lu Xiangyang, Fan Hui, Guo Ting, Deniz Engin, Luo Hong, Khokha Mustafa K

Biallelic variants in the conserved ribosomal protein chaperone gene PDCD2 are associated with hydrops fetalis and early pregnancy loss.

保守的核糖体蛋白伴侣基因 PDCD2 的双等位基因变异与胎儿水肿和早期妊娠丢失有关

Landry-Voyer Anne-Marie, Holling Tess, Mis Emily K, Mir Hassani Zabih, Alawi Malik, Ji Weizhen, Jeffries Lauren, Kutsche Kerstin, Bachand François, Lakhani Saquib A

Trio exome analysis is a valuable tool for genetic diagnosis of epilepsy in Mali

三重外显子组分析是马里癫痫基因诊断的重要工具。

Bamba, Salia; Jeffries, Lauren; Diarra, Salimata; Nimaga, Karamoko; Touré, Amadou; Goita, Modibo K; Diallo, Seybou H; Ji, Weizhen; Maiga, Alassane Baneye; Traoré, Oumou; Doumbia, Moussa; Koné, Adama; Sanni, Koudoussou Olaréwadjou; Camara, Ahmed; Cissé, Mohamed A; Kane, Ramatoulaye; Nimaga, Ibrahim; Traoré, Mamadou; Cissé, Lassana; Yalcouyé, Abdoulaye; Abdel Kader Cissé, Cheick; Mefoung, Samuel Ephrata; Sangaré, Moussa; Kotioumbé, Mahamadou; Touré, Aissata S; Dembélé, Mohamed Emile; Mis, Emily K; Guinto, Cheick Oumar; Samassékou, Oumar; Traoré, Mahamadou; Khokha, Mustafa K; Landouré, Guida; Lakhani, Saquib A

Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali

病例报告:来自马里的三个互不相关的家族中,新的变异导致发育性和癫痫性脑病

Bamba, Salia; Sidibé, Lala; Diallo, Seybou H; Cissé, Lassana; Dembélé, Kékouta; Yalcouyé, Abdoulaye; Ji, Weizhen; Dembélé, Mohamed Emile; Diarra, Salimata; Maiga, Alassane Dit Baneye; Traoré, Oumou; Diallo, Salimata; Mefoung, Samuel Ephrata; Touré, Amadou; Koné, Adama; Jeffries, Lauren; Guinto, Cheick O; Mis, Emily K; Fischbeck, Kenneth H; Khokha, Mustafa K; Lakhani, Saquib A; Landouré, Guida

Visualization and quantification of injury to the ciliated epithelium using quantitative flow imaging and speckle variance optical coherence tomography

利用定量流成像和散斑方差光学相干断层扫描技术对纤毛上皮损伤进行可视化和定量分析

Gamm, Ute A; Huang, Brendan K; Mis, Emily K; Khokha, Mustafa K; Choma, Michael A