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

Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review

报告一种与高磷酸酶症和智力障碍相关的PGAP3基因新型致病变异:病例报告及文献综述

Salmaninejad, Arash; Seyedtaghia, Mohammad Reza; Bereshneh, Ali Hosseini; Azizi, Nasrin; Bayat, Reza; Esnaashari, Somaye; Aminzadeh, Vahid; Koohmanaee, Shahin; Savad, Shahram; Mojarrad, Majid; Dalili, Setila

P-109 DIFFUSE LARGE B-CELL LYMPHOMA OF THE THYROID: A CASE REPORT

P-109 甲状腺弥漫性大B细胞淋巴瘤:病例报告

Noorian, Shahab; Hamzehlou, Sepideh; Rabbani, Ali; Sotoudeh, Arya; Pour Rostami, Kioumars; Savad, Shahram; Malekian, Mahsa; Bahrami, Amir; Vahedi, Amir; Raeisi, Mortaza; Jalili, Javad; Hamzehzadeh, Sina

Pediatric simple triage score: A simplified approach for triaging pediatric patients with fever in the emergency department

儿科简易分诊评分:一种简化的急诊科发热儿科患者分诊方法

Vadakkeveedan, Arshad Ali; Poovathumparambil, Venugopalan; Senapathy, Rohan Thomas; Shaji, Ijas Muhammed; Padiyath, Ridha; Jayachandran, Ajith Kumar; Kunheenkutty, Roshan P; Savad, Nadeer

Isolated Growth Hormone Deficiency IA due to a Novel Homozygous Large Deletion ∼1.6 kb Spanning Exons 1-4 of GH1 Gene: A Case Report

一例由GH1基因外显子1-4处约1.6 kb的新型纯合大片段缺失引起的孤立性生长激素缺乏症IA病例报告

Noorian, Shahab; Soltani, Hedieh; Aghamahdi, Fatemeh; Savad, Shahram; Alan, Mahnaz Seifi

An Intronic Variant in CDKN1C Gene Causing IMAGe Syndrome in an Iranian Girl

CDKN1C基因内含子变异导致一名伊朗女孩患上IMAGe综合征

Dalili, Setila; Hoseini Nouri, Seyyedeh Azade; Sharifi, Ameneh; Bayat, Reza; Talebi, Saeid; Savad, Shahram; Medghalchi, Nazanin; Rabbani, Bahareh; Mahdieh, Nejat

Performance of cell free DNA as a screening tool based on the results of first trimester screening

基于妊娠早期筛查结果的游离DNA作为筛查工具的性能

Motevasselian, Mahtab; Omrani, Mohammad Amin; Saleh Gargari, Soraya; Younesi, Sarang; Taheri Amin, Mohammad Mahdi; Saadati, Pourandokht; Jamali, Soudabeh; Modarresi, Mohammad-Hossein; Savad, Shahram; Rahmani, Majid; Amidi, Saloomeh; Delshad, Saeed; Navidpour, Fariba; Chagheri, Samira; Mohammadi, Yalda; Khalilian, Sheyda; Eslami, Solat; Ghafouri-Fard, Soudeh

A comprehensive overview of SMN and NAIP copy numbers in Iranian SMA patients

对伊朗脊髓性肌萎缩症(SMA)患者中SMN和NAIP拷贝数的全面概述

Savad, Shahram; Ashrafi, Mahmoud Reza; Samadaian, Niusha; Heidari, Morteza; Modarressi, Mohammad-Hossein; Zamani, Gholamreza; Amidi, Saloomeh; Younesi, Sarang; Amin, Mohammad Mahdi Taheri; Saadati, Pourandokht; Ronagh, Alireza; Ardakani, Hossein Shojaaldini; Eslami, Solat; Ghafouri-Fard, Soudeh

A Family With Novel X-Linked Recessive Homozygous Mutation in ANOS1 (c.628_629 del, p.1210fs∗) in Kallmann Syndrome Associated Unilateral Ptosis: Case Report and Literature Review

一例携带ANOS1基因新型X连锁隐性纯合突变(c.628_629 del, p.1210fs∗)的Kallmann综合征相关单侧上睑下垂家族病例报告及文献综述

Noorian, Shahab; Savad, Shahram; Khavandegar, Armin; Jamee, Mahnaz

Non-invasive prenatal test to screen common trisomies in twin pregnancies

无创产前检测筛查双胎妊娠中常见的三体综合征

Motevasselian, Mahtab; Saleh Gargari, Soraya; Younesi, Sarang; Pooransari, Parichehr; Saadati, Pourandokht; Mirzamoradi, Masoomeh; Savad, Shahram; Taheri Amin, Mohammad Mahdi; Modarresi, Mohammad-Hossein; Afrakhteh, Maryam; Ghafouri-Fard, Soudeh

Expression of Testis Specific Genes TSGA10, TEX101 and ODF3 in Breast Cancer

睾丸特异性基因TSGA10、TEX101和ODF3在乳腺癌中的表达

Dianatpour, Mehdi; Mehdipour, Parvin; Nayernia, Karim; Mobasheri, Maryam-Beigom; Ghafouri-Fard, Soudeh; Savad, Shahram; Modarressi, Mohammad Hossein