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

Clinical, Genetic and Functional Characterization of a Novel AVPR2 Missense Mutation in a Woman with X-Linked Recessive Nephrogenic Diabetes Insipidus

患有 X 连锁隐性肾源性尿崩症的女性中新型 AVPR2 错义突变的临床、遗传和功能特征

Senthil Selvaraj, Dírcea Rodrigues, Navaneethakrishnan Krishnamoorthy, Khalid A Fakhro, Luís R Saraiva, Manuel C Lemos

Functional Characterization of the MYO6 Variant p.E60Q in Non-Syndromic Hearing Loss Patients

非综合征性听力损失患者中 MYO6 变体 p.E60Q 的功能特征

Moza Alkowari, Meritxell Espino-Guarch, Sahar Daas, Doua Abdelrahman, Waseem Hasan, Navaneethakrishnan Krishnamoorthy, Abbirami Sathappan, Patrick Sheehan, Nicholas Van Panhuys, The Qatar Genome Program Research Consortium, Xavier Estivill

In silico and in vivo models for Qatari-specific classical homocystinuria as basis for development of novel therapies

卡塔尔特有的经典同型胱氨酸尿症的计算机模拟和体内模型作为开发新疗法的基础

Hesham M Ismail, Navaneethakrishnan Krishnamoorthy, Nader Al-Dewik, Hatem Zayed, Nura A Mohamed, Valeria Di Giacomo, Sapna Gupta, Johannes Häberle, Beat Thöny, Henk J Blom, Waren D Kruger, Tawfeg Ben-Omran, Gheyath K Nasrallah