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

Efficacy of spectacle lenses for myopia control: a meta-analysis of randomised controlled trials

眼镜镜片治疗近视的疗效:随机对照试验的荟萃分析

D'Andrea, Luca; Rinaldi, Michele; Piscopo, Raffaele; Iorio, Fabiana; La Padula, Simone; Maqsood, Sundas; Elalfy, Mohamed; Melenzane, Antonietta; Confalonieri, Filippo; Ozkan, Ozlem; Utine, Canan Asli; Costagliola, Ciro

First Report of a Novel ZNF462 Variant Linked to Weiss-Kruszka Syndrome and Congenital Diaphragmatic Hernia: Insights into Potential Additional Malformations

首次报道一种与魏斯-克鲁什卡综合征和先天性膈疝相关的新型ZNF462变异:对潜在其他畸形的见解

Ketenci-İşlek, Serap; Ürel-Demir, Gizem; Utine, Gülen Eda; Şimşek-Kiper, Pelin Özlem

Loss of carbohydrate sulfotransferase 6 function leads to macular corneal dystrophy phenotypes and skeletal defects in zebrafish

碳水化合物磺基转移酶 6 功能丧失导致斑马鱼黄斑角膜营养不良表型和骨骼缺陷

Merve Basol, Esra Ersoz-Gulseven, Helin Ozaktas, Sibel Kalyoncu, Canan Asli Utine, Gulcin Cakan-Akdogan

Recognizing multiple epiphyseal dysplasia in children presenting with joint pain: a commonly overlooked skeletal dysplasia

识别以关节疼痛为主要表现的儿童的多发性骨骺发育不良:一种常被忽视的骨骼发育不良

Daşar, Tuğba; İmren, Gözde; Yıldız, Adalet Elçin; Demir, Gizem Ürel; Utine, Gülen Eda; Yılmaz, Güney; Kiper, Pelin Özlem Şimşek

PIK3CA-Related Phenotypes due to Germline and Somatic Mosaic Variants: A two-Case Report

由种系和体细胞嵌合变异引起的PIK3CA相关表型:两例病例报告

Acikgoz, Nazli Busra; Yildiz, Damla; Urel-Demir, Gizem; Utine, Gulen Eda; Simsek-Kiper, Pelin Ozlem

Enhancing Genetic Insight: Chromosomal Microarray Enhances Understanding of Genetics in Rubinstein-Taybi Syndrome

增强遗传学洞察力:染色体微阵列技术增进了对鲁宾斯坦-泰比综合征遗传学的理解

Erkan, Dilsu Dicle; Soğukpınar, Merve; Demir, Gizem Ürel; Utine, Gülen Eda; Şimşek-Kiper, Pelin Özlem

A Case of Opsismodysplasia with a Novel INPPL1 Variant

一例伴有新型INPPL1变异的眼部发育不良病例

Daşar, Tuğba; Aypar, Ebru; Utine, Gülen Eda; Şimşek-Kiper, Pelin Özlem

A Novel Pathogenic TSPEAR Variant in a Family with Clinical Variability: Definition of Dental Anomalies and Review of the Literature

家族中一种新型致病性TSPEAR变异体及其临床表现:牙齿异常的定义及文献综述

Akalın, Akçahan; Koç, Nagihan; Özşin-Özler, Cansu; Karaosmanoglu, Beren; Ürel-Demir, Gizem; Taskiran, Ekim Z; Utine, Gulen Eda; Uzamış-Tekçiçek, Meryem; Şimşek-Kiper, Pelin Özlem

Ophthalmological and Orthoptic Findings in Down Syndrome: Is Genotype-Phenotype Correlation Possible?

唐氏综合征的眼科和斜视检查结果:基因型与表型之间是否存在相关性?

Koyuncuoglu, Melisa Akgoz; Taylan Sekeroglu, Hande; Urel Demir, Gizem; Simsek Kiper, Ozlem; Karakaya, Jale; Utine, Gulen Eda

Unraveling the Role of RSPRY1 in TGF-β Pathway Dysregulation: Insights into the Pathogenesis of Spondyloepimetaphyseal Dysplasia

揭示RSPRY1在TGF-β通路失调中的作用:对脊椎骨骺干骺端发育不良发病机制的深入理解

Gozde Imren ,Beren Karaosmanoglu ,Bihter Muratoglu ,Cansu Ozdemir ,Gulen Eda Utine ,Pelin Ozlem Simsek-Kiper ,Ekim Z Taskiran