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

Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder

RAPGEF2基因中罕见的杂合新生变异与神经发育障碍相关。

Bereshneh, Ali H; Wilson, Kirkland A; Pan, Xueyang; Hannan, Shabab B; Cooper, Megan A; Diaz, Jullianne; Leon, Eyby; Moses, Tiana M; Azamian, Mahshid S; Scott, Daryl A; Billie Au, Ping Yee; Appendino, Juan Pablo; Scheffer, Ingrid E; Kaspi, Antony; Bahlo, Melanie; Hildebrand, Michael S; Morgan, Angela T; Ekure, Ekanem; Shulman, Joshua M; Hildebrandt, Friedhelm; Posey, Jennifer E; Kruszka, Paul; Vilain, Eric; Yamamoto, Shinya; Kanca, Oguz; Berger, Seth; Bellen, Hugo J

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

De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms

CDKL1 和 CDKL2 的新生变异与神经发育症状相关

Bereshneh, Ali H; Andrews, Jonathan C; Eberl, Daniel F; Bademci, Guney; Borja, Nicholas A; Bivona, Stephanie; Chung, Wendy K; Yamamoto, Shinya; Wangler, Michael F; McKee, Shane; Tekin, Mustafa; Bellen, Hugo J; Kanca, Oguz

Characteristics of disease progression and genetic correlation in ambulatory Iranian boys with Duchenne muscular dystrophy

伊朗可行走杜氏肌营养不良症男孩的疾病进展特征及遗传相关性

Zamani, Gholamreza; Hosseinpour, Sareh; Ashrafi, Mahmoud Reza; Mohammadi, Mahmoud; Badv, Reza Shervin; Tavasoli, Ali Reza; Akbari, Masood Ghahvechi; Bereshneh, Ali Hosseini; Malamiri, Reza Azizi; Heidari, Morteza

Novel compound heterozygous variants in XYLT1 gene caused Desbuquois dysplasia type 2 in an aborted fetus: a case report

XYLT1基因中新的复合杂合变异导致流产胎儿发生Desbuquois 2型发育不良:病例报告

Rajabi, Fatemeh; Bereshneh, Ali Hosseini; Ramezanzadeh, Mahboubeh; Garshasbi, Masoud

Case Report of RANBP2 Mutation and Familial Acute Necrotizing Encephalopathy

RANBP2基因突变与家族性急性坏死性脑病病例报告

Paktinat, Mohamad; Hessami, Kamran; Inaloo, Soroor; Nemati, Hamid; Katibeh, Pegah; Nejabat, Marzieh; Darabi, Mohammad Hassan; Bereshneh, Ali Hosseini

Methylation Assessment of Two DKK2 and DKK4 Genes in Oral Squamous Cell Carcinoma Patients

口腔鳞状细胞癌患者中DKK2和DKK4两个基因的甲基化评估

Kheirandish, Sedigheh; Eshghyar, Nosratollah; Yazdani, Farzad; Amini Shakib, Pouyan; Hosseini-Bereshneh, Ali; Nouri, Zahra; Kheiran-Dish, Ali; Karami, Fatemeh