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

Nonprogressive Nephrotic Range Proteinuria Because of Indirect Cubilin Dysfunction

非进行性肾病范围蛋白尿,由间接Cubilin功能障碍引起

Oliveira, João Paulo; Nielsen, Pia Kamuk; Pereira, Susana; Dória, Sofia; Freixo, João Parente; Nielsen, Rikke

Management of Complications Following Botulinum Toxin Facial Injections: A Narrative Review

肉毒杆菌毒素面部注射后并发症的处理:叙述性综述

Freixo, Sara; Camões-Barbosa, Alexandre

Episodic Ataxia Associated With Synaptosomal-Associated Protein 25 (SNAP25) Variant: Beyond Epilepsy and Developmental Delay

与突触体相关蛋白25 (SNAP25) 变异相关的发作性共济失调:超越癫痫和发育迟缓

Fernandes, Inês F; Figueiredo, Ana Cristina; Parente Freixo, João; Dupont, Juliette; Carvalho, João

MRI Features of Intravenous Leiomyomatosis

静脉内平滑肌瘤病的MRI特征

Freixo, Beatriz; Doutel, Delfim; Cunha, Teresa Margarida

Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals

3972 例个体样本中全外显子组测序 (WES) 数据的医学可操作性次要发现

Melo, Mafalda; Ribeiro, Mariana; Silva, Paulo Filipe; Valente, Susana; Alves, Filipe; Venâncio, Margarida; Sequeiros, Jorge; Freixo, João Parente; Antunes, Diana; Oliveira, Jorge

Missense variant in TTBK2 kinase domain causes loss of function and impaired protein phosphorylation

TTBK2激酶结构域中的错义变异导致功能丧失和蛋白质磷酸化受损

Felício, Daniela; Osório, Hugo; Pereira, Conceição; Brandão, Ana Filipa; Freixo, João Parente; Carvalho, Inês; Sousa, Ana Paula; Castro-Caldas, Margarida; Sequeiros, Jorge; Lemos, Carolina; Santos, Mariana

Huntington's Disease-Like 2 in a European Caucasian Patient

一名欧洲白种人患者出现亨廷顿病样2型

Rodrigues, Catarina Correia; Antunes, Ana Patrícia; Oliveira, Jorge; Freixo, João Parente; Guedes, Leonor Correia; Carvalho, Vanessa

Urethral Instability and Overactive Bladder Symptoms: Evidence From Clinical Practice

尿道不稳定和膀胱过度活动症症状:来自临床实践的证据

Freixo, Sara D; Mira Coelho, Manuela; Pereira, Patrícia; Sousa, João

A novel disease-causing variant associated with a milder phenotype of AARS2-related leukodystrophy - A case report

一种与AARS2相关脑白质营养不良症较轻表型相关的新型致病变异——病例报告

Fernandes, Joana; Moura, João; Tarrio, João; Oliveira, Jorge; Lopes, Ana; Freixo, João Parente; Videira, Gonçalo

Lower Urinary Tract Dysfunction in Myasthenia Gravis: A Case Report and Literature Review

重症肌无力合并下尿路功能障碍:病例报告及文献综述

Pereira, Patrícia; Coelho, Manuela Mira; Tizón, Sónia; Freixo, Sara