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

FRMPD4, a causal gene for intellectual disability and epilepsy, is associated with X-linked non-syndromic hearing loss

FRMPD4是导致智力障碍和癫痫的致病基因,也与X连锁非综合征性听力损失有关。

Liedtke, Daniel; Rak, Kristen; Schrode, Katrina M; Hehlert, Philip; Chamanrou, Niloofar; Bengl, Daniel; Katana, Radoslaw; Heydaran, Soganad; Doll, Julia; Han, Mei; Nanda, Indrajit; Senthilan, Pingkalai R; Jürgens, Lukas; Bieniussa, Linda; Voelker, Johannes; Neuner, Cordula; Hofrichter, Michaela Ah; Schröder, Jörg; Schellens, Renske T W; de Vrieze, Erik; van Wijk, Erwin; Zechner, Ulrich; Herms, Stefan; Hoffmann, Per; Müller, Tobias; Dittrich, Marcus; Bartsch, Oliver; Krawitz, Peter M; Klopocki, Eva; Shehata-Dieler, Wafaa; Maroofian, Reza; Wang, Tao; Worley, Paul F; Göpfert, Martin C; Galehdari, Hamid; Lauer, Amanda M; Haaf, Thomas; Vona, Barbara

Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder

编码钠依赖性碳酸氢盐转运蛋白的SLC4A10基因的双等位基因变异会导致神经发育障碍

Maroofian, Reza; Zamani, Mina; Kaiyrzhanov, Rauan; Liebmann, Lutz; Karimiani, Ehsan Ghayoor; Vona, Barbara; Huebner, Antje K; Calame, Daniel G; Misra, Vinod K; Sadeghian, Saeid; Azizimalamiri, Reza; Mohammadi, Mohammad Hasan; Zeighami, Jawaher; Heydaran, Sogand; Toosi, Mehran Beiraghi; Akhondian, Javad; Babaei, Meisam; Hashemi, Narges; Schnur, Rhonda E; Suri, Mohnish; Setzke, Jonas; Wagner, Matias; Brunet, Theresa; Grochowski, Christopher M; Emrick, Lisa; Chung, Wendy K; Hellmich, Ute A; Schmidts, Miriam; Lupski, James R; Galehdari, Hamid; Severino, Mariasavina; Houlden, Henry; Hübner, Christian A

Design and Development of Reverse Slot Blot for the Simultaneous Detection of Rare and Regional Specific Mutations in the Beta Globin Gene in Khuzestan Province of Iran

伊朗胡齐斯坦省β珠蛋白基因罕见和区域特异性突变同步检测反向槽式印迹法的设计与开发

Galehdari, Hamid; Bijanzadeh, Mehdi; Azarshin, Seyedeh Zohreh; Shafee, Mohammad; Heydaran, Sogand