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

Phenotypic Spectrum of Type 2-3 Gaucher Disease: A Case Study in the Balkan Genotype

2-3型戈谢病的表型谱:巴尔干基因型的案例研究

Cullufi, Paskal; Velmishi, Virtut; Dervishi, Ermira; Tomori, Sonila; Hoxha, Gladiola; Jazexhiu-Postoli, Eda; Basha, Entela; Tako, Aferdita Kumaraku; Tabaku, Mirela

Junctional Epidermolysis Bullosa Caused by a Hemiallelic Nonsense Mutation in LAMA3 Revealed by 18q11.2 Microdeletion

交界型大疱性表皮松解症由LAMA3基因半等位基因无义突变引起,18q11.2微缺失揭示

Iacoviello, Matteo; Piglionica, Marilidia; Tabaku, Ornella; Garganese, Antonella; De Marco, Aurora; Cardinale, Fabio; Bonamonte, Domenico; Resta, Nicoletta

Ten-Year Follow-Up of Taliglucerase Alfa in Type 1 Gaucher Disease: Real-World Evidence from Albania

阿尔巴尼亚1型戈谢病患者接受Taliglucerase Alfa治疗的十年随访:来自真实世界的证据

Cullufi, Paskal; Velmishi, Virtut; Troja, Erjon; Tomori, Sonila; Dervishi, Ermira; Hoxha, Gladiola; Tanka, Marjeta; Pulluqi, Polikron; Perolla, Adela; Basha, Entela; Ivanaj, Arben; Jazexhiu, Eda; Tabaku, Mirela

Retinoblastoma in Albania: A 25-Year Retrospective Analysis

阿尔巴尼亚视网膜母细胞瘤:一项25年回顾性分析

Duka, Enkeleda; Hashorva, Eduart; Kapllanaj, Mirzana; Xhafa, Mirela; Godo, Anila; Tandili, Alketa; Rustemi, Eneda; Petrela, Elizana; Arazi, Mattan; Fabian, Ido Didi; Babameto, Anila; Tabaku, Mirela; Shundi, Lila; Bali, Donjeta

Maternal atopic conditions and autism spectrum disorder: a systematic review

母亲特应性疾病与自闭症谱系障碍:系统性综述

Seker, Asilay; Qirko-Gurakuqi, Anxhela; Tabaku, Mirela; Javate, Kenneth Ross P; Rathwell, Iris

"The police came in white protective suits and with batons, it was pure disaster" - a multi-stakeholder perspective on infection control in reception centers for asylum seekers during the COVID-19 pandemic in Germany

“警察穿着白色防护服,拿着警棍来了,简直是一场灾难”——多方利益相关者对德国新冠疫情期间难民接待中心感染控制的看法

Pacolli-Tabaku, Latife; Führer, Amand; Wahidie, Diana; Trohl, Ulrich; Yilmaz-Aslan, Yüce; Brzoska, Patrick

[Management Of Covid-19 Pandemic In Shelters For Asylum Seekers: Results From A Mixed Methods Study.]

[庇护所应对新冠疫情的管理:一项混合方法研究的结果。]

Führer, Amand; Pacolli-Tabaku, Latife; Kompa, Paula; Yılmaz-Aslan, Yüce; Brzoska, Patrick

Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency

深内含子 ETFDH 变异代表多种酰基辅酶 A 脱氢酶缺乏症中的复发性致病事件

Stefania Martino, Pietro D'Addabbo, Antonella Turchiano, Francesca Clementina Radio, Alessandro Bruselles, Viviana Cordeddu, Cecilia Mancini, Alessandro Stella, Nicola Laforgia, Donatella Capodiferro, Simonetta Simonetti, Rosanna Bagnulo, Orazio Palumbo, Flaviana Marzano, Ornella Tabaku, Antonella G

Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer

高至中等外显率基因对基因检测的影响:以乳腺癌为例

Turchiano, Antonella; Piglionica, Marilidia; Martino, Stefania; Bagnulo, Rosanna; Garganese, Antonella; De Luisi, Annunziata; Chirulli, Stefania; Iacoviello, Matteo; Stasi, Michele; Tabaku, Ornella; Meneleo, Eleonora; Capurso, Martina; Crocetta, Silvia; Lattarulo, Simone; Krylovska, Yevheniia; Lastella, Patrizia; Forleo, Cinzia; Stella, Alessandro; Bukvic, Nenad; Simone, Cristiano; Resta, Nicoletta

A novel de novo pathogenic variant in KDM3B gene at the first Albanian case of Diets-Jongmans syndrome: DIJOS

第一例阿尔巴尼亚 Diets-Jongmans 综合征病例中 KDM3B 基因的新的从头致病性变异:DIJOS

Tabaku, Mirela; Tomori, Sonila; Cullufi, Paskal; Dervishi, Ermira; Paknia, Omid; Bauer, Peter