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

PIGC-related encephalopathy: Lessons learned from 18 new probands

PIGC相关性脑病:从18例新先证者中汲取的经验教训

Bayat, Allan; Borroto, Maria Carla; Salian, Smrithi; Zaki, Maha S; Benkerroum, Hind; Elbendary, Hasnaa M; Nguyen, Thi Tuyet Mai; Sadek, Abdelrahim A; Carli, Diana; Brusco, Alfredo; Ferrero, Giovanni Battista; Tartaglia, Marco; Hay, Eleanor; Krey, Ilona; A Jamra, Rami; Bartolomaeus, Tobias; Knaus, Alexej; Gleeson, Joseph G; Houlden, Henry; Dominik, Natalia; Jackson, Adam; Douzgou Houge, Sofia; Banka, Siddharth; Mohammadi-Asl, Javad; Hajjari, Mohammadreza; Azizimalamiri, Reza; Nourbakhsh, Pardis; Neissi, Mostafa; Scardamaglia, Annarita; Li, Dianfan; Kinoshita, Taroh; Maroofian, Reza; Murakami, Yoshiko; Campeau, Philippe M

Gene variant analysis in pediatrics with early-onset epilepsy: Identification of novel variants

儿童早期癫痫基因变异分析:新变异的鉴定

Alizadeh, Pooyan; Babadi, Armin Jahangiri; Ghadiri, Nemat; Neissi, Mostafa; Zeinali, Masoud

Oculocutaneous albinism in a patient with an OCA2 variant: molecular and clinical insights

OCA2变异患者的眼皮肤白化病:分子和临床见解

Neissi, Mostafa; Al-Mozani, Sahar Kareem; Al-Zaalan, Ayoob Radhi; Sanavi Shiri, Samaneh; Sheikh-Hosseini, Motahareh; Al-Badran, Adnan Issa; Nekouei, Elaheh

Genetic Diagnosis of Oculocutaneous Albinism Type 1A: A Novel TYR Variant.

眼皮肤白化病 1A 型的基因诊断:一种新的 TYR 变异

Shihab Raghad N, Hamid Rusul Thabit, Neissi Mostafa, Mohammadi-Asl Javad, Sheikh-Hosseini Motahareh, Nekouei Elaheh

Retinitis pigmentosa-1 due to an RP1 mutation in a consanguineous Iranian family: Report of a novel mutation

伊朗近亲结婚家族中由RP1基因突变引起的视网膜色素变性-1:一种新突变的报告

Neissi, Mostafa; Sheikh-Hosseini, Motahareh; Mohammadi-Asl, Javad

Identification and characterization of NMNAT1 gene mutations in an Iranian patient with Leber congenital amaurosis 9

对一名患有 Leber 先天性黑蒙的伊朗患者进行 NMNAT1 基因突变的鉴定和表征 9

Neissi, Mostafa; Sheikh-Hosseini, Motahareh; Mohammadi-Asl, Misagh; Al-Badran, Adnan Issa; Roghani, Mojdeh; Mohammadi-Asl, Javad; Jorfi, Kamele

A Novel Deleterious MYO15A Gene Mutation Causes Nonsyndromic Hearing Loss

一种新型的有害MYO15A基因突变导致非综合征性听力损失

Neissi, Mostafa; Al-Badran, Adnan Issa; Mohammadi-Asl, Javad

AHI1 gene mutation in a consanguineous Iranian family affected by Joubert syndrome: A case report

伊朗近亲结婚家族中AHI1基因突变导致Joubert综合征:病例报告

Neissi, Mostafa; Mabudi, Hadideh; Mohammadi-Asl, Javad

Identification of a Novel WFS1 Mutation Using the Whole Exome Sequencing in an Iranian Pedigree with Autosomal Dominant Hearing Loss

利用全外显子组测序技术在伊朗常染色体显性遗传性听力损失家系中鉴定出一种新的WFS1突变

Mohammadi-Asl, Javad; Saki, Nader; Dehdashtiyan, Masoud; Neissi, Mostafa; Ghanbari Mardasi, Farideh