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

Community Knowledge, Attitude, and Practices Related to Strabismus and Strabismus Treatment and Surgery in Al-Jouf Region, Saudi Arabia

沙特阿拉伯焦夫地区社区对斜视及其治疗和手术的认知、态度和实践

Alanazi, Bader; Almulhim, Abdulmohsen; Alfaleh, Abdulrahman; Amsaiab, Rana; Althari, Alhanof Ahmed; Alashjaee, Rasha; Alsabilah, Rahaf Hamdan; Alsahli, Ohoud Mohammed F

Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation

利用多维功能数据对HNF1A错义变异进行无监督聚类分析有助于临床解读

Althari, Sara; Najmi, Laeya A; Bennett, Amanda J; Aukrust, Ingvild; Rundle, Jana K; Colclough, Kevin; Molnes, Janne; Kaci, Alba; Nawaz, Sameena; van der Lugt, Timme; Hassanali, Neelam; Mahajan, Anubha; Molven, Anders; Ellard, Sian; McCarthy, Mark I; Bjørkhaug, Lise; Njølstad, Pål Rasmus; Gloyn, Anna L

AKR1D1 is a novel regulator of metabolic phenotype in human hepatocytes and is dysregulated in non-alcoholic fatty liver disease

AKR1D1 是人类肝细胞代谢表型的新型调节剂,在非酒精性脂肪肝疾病中失调

Nikolaos Nikolaou, Laura L Gathercole, Lea Marchand, Sara Althari, Niall J Dempster, Charlotte J Green, Martijn van de Bunt, Catriona McNeil, Anastasia Arvaniti, Beverly A Hughes, Bruno Sgromo, Richard S Gillies, Hanns-Ulrich Marschall, Trevor M Penning, John Ryan, Wiebke Arlt, Leanne Hodson, Jeremy

Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature

描述结构性染色体重排的测序结果,并提出下一代细胞遗传学命名法

Ordulu, Zehra; Wong, Kristen E; Currall, Benjamin B; Ivanov, Andrew R; Pereira, Shahrin; Althari, Sara; Gusella, James F; Talkowski, Michael E; Morton, Cynthia C