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

Mapping epigenetic gene variant dynamics: comparative analysis of frequency, functional impact and trait associations in African and European populations

绘制表观遗传基因变异动态图谱:非洲和欧洲人群中变异频率、功能影响和性状关联的比较分析

Sinkala, Musalula; Retshabile, Gaone; Mpangase, Phelelani T; Bamba, Salia; Goita, Modibo K; Nembaware, Victoria; Elsheikh, Samar S M; Heckmann, Jeannine; Esoh, Kevin; Matshaba, Mogomotsi; Adebamowo, Clement A; Adebamowo, Sally N; Amih, Ofon Elvis; Landoure, Guida; Wonkam, Ambroise; Ramsay, Michele; Mulder, Nicola

Unusual catecholaminergic polymorphic ventricular tachycardia and bradycardia caused by a novel triadin variant in 2 siblings from a Malian family

马里一个家族的两名兄弟姐妹因一种新的三联蛋白变异体而患上罕见的儿茶酚胺能多形性室性心动过速和心动过缓

Diakité, Mamadou; Samassékou, Oumar; Sanni, Koudoussou O; Bamba, Salia; Dembélé, Bouréma; Traoré, Oumou; Goita, Modibo K; Maiga, Alassane Baneye; Diarra, Salimata; Sacko, Abdoul Karim; Ba, Hamidou O; Coulibaly, Souleymane; Menta, Ichaka; Landouré, Guida

A novel variant in ARSA causes a rare phenotype of infantile metachromatic leukodystrophy in a Malian family

ARSA基因的新变异导致马里一个家族出现一种罕见的婴儿异染性脑白质营养不良表型

Maiga, Alassane Baneye; Arama, Abdoulaye; Yalcouyé, Abdoulaye; Albakaye, Mohamed; Weizhen, Ji; Bamba, Salia; Traoré, Oumou; Sangaré, Moussa; Kotioumbé, Mahamadou; Djimdé, Samba Ogomaly; Goita, Modibo K; Diarra, Salimata; Khokha, Mustafa K; Lakhani, Saquib A; Landouré, Guida

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

Mapping Epigenetic Gene Variant Dynamics: Comparative Analysis of Frequency, Functional Impact and Trait Associations in African and European Populations

绘制表观遗传基因变异动态图谱:非洲和欧洲人群中变异频率、功能影响和性状关联的比较分析

Sinkala, Musalula; Retshabile, Gaone; Mpangase, Phelelani T; Bamba, Salia; Goita, Modibo K; Nembaware, Vicky; Elsheikh, Samar S M; Heckmann, Jeannine; Esoh, Kevin; Matshaba, Mogomotsi; Adebamowo, Clement A; Adebamowo, Sally N; Amih, Ofon Elvis; Wonkam, Ambroise; Ramsay, Michele; Mulder, Nicola