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A. Ayerza Casas

miguel servet university hospital
H指数:9
被引数:269

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Is the Loss of Previously Acquired Skills a Feature of PACS1-, PACS2- and WDR37-Related Syndromes? A Systematized Narrative Review

先前习得技能的丧失是PACS1-、PACS2-和WDR37相关综合征的特征吗?一项系统化叙事综述

2026-09-160
OA
Paediatric long QT syndrome: clinical outcomes and therapy in the Spanish National Registry

儿科长QT综合征:西班牙国家登记册中的临床结果与治疗

2026-07-170
OAAI
Defining ascending aorta dilatation in pediatric bicuspid aortic valve: Comparison of known classical and new z-score nomograms, and anthropometric parameters indexing for its assessment

定义儿科二叶主动脉瓣患者的升主动脉扩张:比较已知的经典和新z分数百分位数图以及用于评估其的人体测量参数索引

2025-11-120
OAAI
AI-Based Facial Phenotyping Supports a Shared Molecular Axis in PACS1-, PACS2-, and WDR37-Related Syndromes

基于人工智能的面部表型分析支持PACS1-、PACS2-和WDR37-相关综合征存在共享分子轴。

2025-08-200
PRE
An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype

与Cornelia de Lange综合征表型相关的AFF2基因内的基因内复制

2024-11-010
OA
Characteristics and outcomes of the Spanish registry for pediatric patients with bicuspid aortic valve (REVAB)
2023-12-011
PRE
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood
2021-07-2916
OAAI