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

High Occurrence of a Missense Variant (c.471C>A) in the FGF23 Gene Related to Hyperostosis-Hyperphosphatemia Syndrome With a Possible Founder Effect

FGF23基因中错义变异(c.471C>A)的高发生率与骨肥厚-高磷血症综合征相关,并可能存在创始人效应。

Sedghi, Maryam; Gharehdaghi, Elika Esmaeilzadeh; Ziaee, Vahid; Abbasi, Farzaneh; Meybodi, Hamid Reza Aghaei; Smiley, Elina; Mehdizadeh, Mehrzad; Raeeskarami, Seyyed Reza; Aslani, Nahid; Shiran, Sahar Naderi; Vafadar, Mehdi; Amoli, Mahsa M

Neonatal diabetes mellitus is a significant feature of COXPD-24 caused by recessive NARS2 variants

新生儿糖尿病是COXPD-24的一个显著特征,该疾病由隐性NARS2变异引起。

Donis, Russell; Wakeling, Matthew N; Jeffery, Nicola; Govier, Molly; Johnson, Matthew B; Hassan, Samar Sabir; Abdullah, Mohammed Ahmed; Eltonbary, Khadiga Yehia Elsayed; Parvaneh, Nima; Amoli, Mahsa M; Abbasi, Farzaneh; Elmaoğulları, Selin; Çetinkaya, Semra; Gunes, Kubra; Tayfun, Meltem; Yaghootkar, Hanieh; Hattersley, Andrew T; Flanagan, Sarah E; De Franco, Elisa

Whole exome sequencing revealed new variants and haplotypes associated with monogenic obesity

全外显子组测序揭示了与单基因肥胖相关的新变异和单倍型。

Gholami, Morteza; Hamidi, Armita Kakavand; Naghshband, Zeinab; Asadi, Mojgan; Amoli, Mahsa M

DYNC1H1 in Spinal Muscular Atrophy: Diagnostic Findings From Two Families and a Comprehensive Review of Its Role in Neuromuscular and Neurodevelopmental Disorders

DYNC1H1 在脊髓性肌萎缩症中的作用:来自两个家族的诊断发现及其在神经肌肉和神经发育障碍中的作用的全面综述

Namdari, Maryam; Ansari, Behnaz; Basiri, Keivan; Azimi, Elham Sadat; Hosseinzadeh, Majid; Bahreini, Amir; Nouri, Narges; Sedghi, Maryam; Fattahpur, Shirin; Amoli, Mahsa M; Tajsharghi, Homa

Genetic variant profiling of neonatal diabetes mellitus in Iranian patients: Unveiling 58 distinct variants in 14 genes

伊朗新生儿糖尿病患者的基因变异谱分析:揭示14个基因中的58种不同变异

Mianesaz, Hamidreza; Ghalamkari, Safoura; Abbasi, Farzaneh; Razzaghy-Azar, Maryam; Sayarifard, Fatemeh; Vakili, Rahim; Sedghi, Maryam; Noroozi Asl, Samaneh; Hosseini, Sousan; Amoli, Mahsa M; Yaghootkar, Hanieh

Level of physical activity in patients with type 2 diabetes

2型糖尿病患者的身体活动水平

Asadi, Mojgan; Nickhah Klashami, Zeynab; Panahi, Nekoo; Oheb, Yodit; Khorasani, Sara; Amoli, Mahsa M; Amerzadeh, Mohammad; Bahrami, Mahdie; Samie, Fatemeh; Khatooni, Marzieh; Hosseinkhani, Zahra; Yousefi, Bahareh; Taherkhani, Omid

Thyroid Cancer research at endocrinology and metabolism research institute (EMRI): a report of scientific activities between 2005 and 2020

内分泌与代谢研究所(EMRI)甲状腺癌研究:2005年至2020年科研活动报告

Samimi, Hilda; Shirzad, Nooshin; Sajjadi-Jazi, Sayed Mahmoud; Heshmat, Ramin; Amoli, Mahsa M; Mohajeri-Tehrani, Mohammad Reza; Tavangar, Seyed Mohammad; Larijani, Bagher; Haghpanah, Vahid

Genetic research in Immunogenetics Group of Endocrinology and Metabolism Research Institute

内分泌与代谢研究所免疫遗传学组的遗传学研究

Asgarbeik, Saeedeh; Amoli, Mahsa M; Vahidi, Aida; Klashami, Zeynab Nickhah

Role of EP4 factor in paediatric type 1 diabetes mellitus: a comprehensive review focusing on the honeymoon period

EP4因子在儿童1型糖尿病中的作用:一项着重于蜜月期的综合综述

Taheri, Forough; Panahi, Nekoo; Vahidi, Aida; Asadi, Mojgan; Amoli, Mahsa M; Goharifar, Naieme

Metformin and long non-coding RNAs in breast cancer

二甲双胍和长链非编码RNA在乳腺癌中的作用

Gholami, Morteza; Klashami, Zeynab Nickhah; Ebrahimi, Pirooz; Mahboobipour, Amir Ali; Farid, Amir Salehi; Vahidi, Aida; Zoughi, Marziyeh; Asadi, Mojgan; Amoli, Mahsa M