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

First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease.

埃及患者首次LIPA基因突变分析揭示了一种新的变异:沃尔曼病

Elaraby Nesma M, Galal Eman Reda, Abdel-Hamid Mohamed, Elbendary Hasnaa M, Elbadry Mohamed, Mekkawy Mona K, Ashaat Neveen A, Mounir Samir M, Ashaat Engy A

Biallelic loss of EMC10 leads to mild to severe intellectual disability

EMC10基因双等位基因缺失会导致轻度至重度智力障碍

Kaiyrzhanov, Rauan; Rocca, Clarissa; Suri, Mohnish; Gulieva, Sughra; Zaki, Maha S; Henig, Noa Z; Siquier, Karine; Guliyeva, Ulviyya; Mounir, Samir M; Marom, Daphna; Allahverdiyeva, Aynur; Megahed, Hisham; van Bokhoven, Hans; Cantagrel, Vincent; Rad, Aboulfazl; Pourkeramti, Alemeh; Dehghani, Boshra; Shao, Diane D; Markus-Bustani, Keren; Sofrin-Drucker, Efrat; Orenstein, Naama; Salayev, Kamran; Arrigoni, Filippo; Houlden, Henry; Maroofian, Reza

Surgical nuances in corpus callosotomy as a palliative epilepsy surgery

胼胝体切开术作为姑息性癫痫手术的手术技巧

Darwish, Ahmed; Radwan, Hesham; Fayed, Zeiad; Mounir, Samir M; Hamada, Salah