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

A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations

一项针对50个常染色体隐性帕金森病家族的临床和分子遗传学研究揭示了已知和新的基因突变

Taghavi, Shaghayegh; Chaouni, Rita; Tafakhori, Abbas; Azcona, Luis J; Firouzabadi, Saghar Ghasemi; Omrani, Mir Davood; Jamshidi, Javad; Emamalizadeh, Babak; Shahidi, Gholam Ali; Ahmadi, Mona; Habibi, Seyed Amir Hassan; Ahmadifard, Azadeh; Fazeli, Atena; Motallebi, Marzieh; Petramfar, Peyman; Askarpour, Saeed; Askarpour, Shiva; Shahmohammadibeni, Hossein Ali; Shahmohammadibeni, Neda; Eftekhari, Hajar; Shafiei Zarneh, Amir Ehtesham; Mohammadihosseinabad, Saeed; Khorrami, Mehdi; Najmi, Safa; Chitsaz, Ahmad; Shokraeian, Parasto; Ehsanbakhsh, Hossein; Rezaeidian, Jalal; Ebrahimi Rad, Reza; Madadi, Faranak; Andarva, Monavvar; Alehabib, Elham; Atakhorrami, Minoo; Mortazavi, Seyed Erfan; Azimzadeh, Zahra; Bayat, Mahdis; Besharati, Amir Mohammad; Harati-Ghavi, Mohammad Ali; Omidvari, Samareh; Dehghani-Tafti, Zahra; Mohammadi, Faraz; Mohammad Hossein Pour, Banafsheh; Noorollahi Moghaddam, Hamid; Esmaili Shandiz, Ehsan; Habibi, Arman; Taherian-Esfahani, Zahra; Darvish, Hossein; Paisán-Ruiz, Coro

Novel Mutations in TACSTD2 Gene in Families with Gelatinous Drop-like Corneal Dystrophy (GDLD)

胶状滴状角膜营养不良(GDLD)家族中TACSTD2基因的新突变

Alehabib, Elham; Jamshidi, Javad; Ghaedi, Hamid; Emamalizadeh, Babak; Andarva, Monavvar; Daftarian, Narsis; Rezaei Kanavi, Mozhgan; Mohammadi Torbati, Peyman; Espandar, Goldis; Alinaghi, Somayeh; Johari, Amir Hossein; Saghally, Mansoor; Mohajerani, Fatemeh; Darvish, Hossein

A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome

在一个患有贾利利综合征的大型近亲婚配家系中发现了一种新的突变和可变表型表达。

Rahimi-Aliabadi, S; Daftarian, N; Ahmadieh, H; Emamalizadeh, B; Jamshidi, J; Tafakhori, A; Ghaedi, H; Noroozi, R; Taghavi, S; Ahmadifard, A; Alehabib, E; Andarva, M; Shokraeian, P; Atakhorrami, M; Darvish, H