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

ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.

ELFN1 缺陷:一种伴有癫痫的神经发育障碍的机制基础和表型谱

Dore Rhys, Chang Chu-Ting, Declève Amber, Brunori Gloria, Ludlam W Grant, Huang Alden, Movahedinia Mojtaba, Damseh Nadirah S, Anwar Ijaz, Vahidi Mehrjardi Mohammad Yahya, Ny Annelii, Khorrami Mehdi, Kheirollahi Majid, Frederiksen Helen, Eghbal Fatemeh, Mirjalili Mohammad Reza, Dehghani Mohammadreza, Karimiani Ehsan Ghayoor, Oreshkov Sergey, Alves Cesar, Striano Pasquale, Suri Mohnish, Martinez-Agosto Julian, Ansar Muhammad, Zahid Muhammad, Akram Samra, Ansar Muhammad, Nelson Stanley F, Antonarakis Stylianos E, Houlden Henry, Copmans Daniëlle, Martemyanov Kirill A, Maroofian Reza

Deciphering the Genetic Basis of Degenerative and Developmental Eye Disorders in 50 Pakistani Consanguineous Families Using Whole-Exome Sequencing

利用全外显子组测序技术解析50个巴基斯坦近亲结婚家庭退行性和发育性眼病的遗传基础

Zafar, Ainee; Baig, Ruqia Mehmood; Arshad, Abida; Rashid, Abdur; Oreshkov, Sergey; Frederiksen, Helen Nabiryo; Ansar, Muhammad

A novel homozygous DST variant causes hereditary sensory and autonomic neuropathy in a Pakistani family

巴基斯坦一个家族中发现一种新的纯合DST变异导致遗传性感觉和自主神经病变。

Munir, Asad; Frederiksen, Helen Nabiryo; Ali, Fawad; Shah, Sabawoon; Rashid, Abdur; Oreshkov, Sergey; Khan, Kashif; Shahzeb, Muhammad; Ullah, Inam; Rahman, Hamid Ur; Ullah, Mukhtar; Ansar, Muhammad; Rehman, Atta Ur

Increased sensitivity to myopia and altered retinal ON/OFF balance in a mouse model lacking Dusp4

Dusp4 缺乏的小鼠模型表现出近视敏感性增加和视网膜 ON/OFF 平衡改变

Wilmet, Baptiste; Michiels, Christelle; Zhang, Jingyi; Louboutin, Awen; Boranijasevic, Sanja; Frederiksen, Helen; Callebert, Jacques; Varin, Juliette; Gimenez, Marie-Laure; Morgans, Catherine; Duvoisin, Robert; Horan, Linda; Plevin, Robin; Picaud, Serge; Marre, Olivier; Audo, Isabelle; Zeitz, Christina

Mice Lacking Gpr179 with Complete Congenital Stationary Night Blindness Are a Good Model for Myopia

缺乏 Gpr179 基因且患有完全性先天性静止性夜盲症的小鼠是近视的良好模型。

Wilmet, Baptiste; Callebert, Jacques; Duvoisin, Robert; Goulet, Ruben; Tourain, Christophe; Michiels, Christelle; Frederiksen, Helen; Schaeffel, Frank; Marre, Olivier; Sahel, José Alain; Audo, Isabelle; Picaud, Serge; Zeitz, Christina