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

Biallelic Truncating DNAH14 Variant in Siblings with Neurodevelopmental Disorder and Predominant Ataxia: Clinical Report and Literature Review

双等位基因截断型DNAH14变异体在患有神经发育障碍和以共济失调为主的同胞中的表现：临床报告和文献综述

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms27020575
Baris, Savas; Dogan, Mustafa; Terali, Kerem; Gezdirici, Alper; Eroz, Recep; Yucel, Peren Perk; Kilic, Huseyin; Yavas, Cuneyd; Yildirim, Gizem; Baris, Ibrahim
发育与干细胞
神经科学
发表日期：2026
文献求助 收藏

Phenotype-Driven Next-Generation Sequencing and Structure-Based In Silico Analysis Reveal Disease-Specific Diagnostic Yield and Genotype-Phenotype Correlations in Inherited Kidney Diseases

基于表型的下一代测序和基于结构的计算机分析揭示了遗传性肾病的疾病特异性诊断率和基因型-表型相关性

期刊:Life-Basel
影响因子:3.4
doi:10.3390/life16030500
Baris, Savas; Terali, Kerem; Bozlak, Serdar; Yilmaz, Neslihan; Yilmaz, Halil Ibrahim; Yavas, Cuneyd; Eroz, Recep; Hazaloglu, Mursel; Ozen, Kubra; Gezdirici, Alper; Dogan, Mustafa; Kilic, Huseyin; Demir, Senol; Baris, Ibrahim
发表日期：2026
文献求助 收藏

Discovery of a Novel CUL3 Variant: Unveiling Epilepsy and Newly Associated Dysmorphic Traits in a Turkish Patient

发现一种新的CUL3变异：揭示一名土耳其患者的癫痫及新发现的相关畸形特征

期刊:Molecular Syndromology
影响因子:0.9
doi:10.1159/000540923
Colak, Yavuzhan; Yilmaz, Mustafa; Kart, Pinar Ozkan; Terali, Kerem; Turkyilmaz, Ayberk; Cansu, Ali
CUL3
癫痫
神经科学
发表日期：2025
文献求助 收藏

A Rare Presentation of Homozygous Pathogenic Variant in MC2R Gene with Salt-Wasting Crisis in a Neonate

新生儿失盐危象：MC2R基因纯合致病变异的罕见表现

期刊:Molecular Syndromology
影响因子:0.9
doi:10.1159/000533986
Kardas Yildiz, Aysenur; Bulbul, Ali; Ozer Bekmez, Buse; Turkyilmaz, Ayberk; Terali, Kerem; Dagdeviren Cakir, Aydilek; Ucar, Ahmet
发表日期：2024
文献求助 收藏

Biallelic Deletion of PEX26 Exon 4 in a Boy with Phenotypic Features of both Zellweger Syndrome and Infantile Refsum Disease

一名男孩的PEX26外显子4存在双等位基因缺失，表现出泽尔维格综合征和婴儿型雷夫苏姆病的表型特征。

期刊:Molecular Syndromology
影响因子:0.9
doi:10.1159/000538676
Yalçınkaya, Burhanettin; Sağlam, Kübra Adanur; Terali, Kerem; Tekin, Emine; Taslak, Hava; Türkyılmaz, Ayberk
发表日期：2024
文献求助 收藏

3-Hydroxy-7,8,9,10-tetrahydro-6H-benzo[c]chromen-6-one and 3-hydroxy-6H-benzo[c]chromen-6-one act as on-off selective fluorescent sensors for Iron (III) under in vitro and ex vivo conditions

3-羟基-7,8,9,10-四氢-6H-苯并[c]色烯-6-酮和3-羟基-6H-苯并[c]色烯-6-酮在体外和离体条件下可作为铁(III)的开关型选择性荧光传感器。

期刊:Turkish Journal of Chemistry
影响因子:1.4
doi:10.3906/kim-2011-58
Shukur, Karar; Fallah, Amirhossein; Terali, Kerem; Kalkan, Rasime; Gazi, Mustafa; Gülcan, Hayrettin Ozan
IF
发表日期：2021
文献求助 收藏

Prevalence of Mediterranean FeVer Gene Mutations in Turkish Cypriot Population

土耳其塞浦路斯人群中地中海热病基因突变的流行情况

期刊:
影响因子:
doi:10.5606/ArchRheumatol.2017.5791
Galip, Nilüfer; Dalkan, Ceyhun; Terali, Ayşe; Çobanoğlu, Nazan; Ülgenalp, Ayfer; Bahçeciler, Nerin; Kavukçu, Salih
发表日期：2017
文献求助 收藏