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

Exploring Molecular and Phenotypic Characteristics of NAGLU Arg234Gly and Asp312Asn Variants

探索 NAGLU Arg234Gly 和 Asp312Asn 变体的分子和表型特征

Kaymakcalan Celebiler, Hande; Barak, Tanyeri; Rai, Devendra K; Kaya, Ilyas; Erbilgin, Seda; Cikili Uytun, Merve; Oztop, Didem; Gumus, Hakan; Per, Huseyin; Ceylaner, Serdar; Bozkurt, Icten; Kontaridis, Maria I; Bilguvar, Kaya; Akhun, Nilay; Kilincaslan, Ayse; Caglayan, Ahmet Okay; Erson-Omay, E Zeynep; Gunel, Murat; Ercan-Sencicek, A Gulhan

Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33

在患有 Joubert 综合征 33 型的三兄妹中发现新的 PIBF1 致病变异

Aynekin, Busra; Samur, Bahadır M; Ozgul Gumus, Ummu Gulsum; Bilguvar, Kaya; Gulec, Ayten; Efthymiou, Stephanie; Gumus, Hakan; Caglayan, Ahmet Okay; Per, Huseyin

DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans

DIAPH1 缺陷与人类 T 细胞、NK 细胞和 ILC 细胞的主要缺陷相关

Azizoglu, Zehra Busra; Babayeva, Royala; Haskologlu, Zehra Sule; Acar, Mustafa Burak; Ayaz-Guner, Serife; Okus, Fatma Zehra; Alsavaf, Mohammad Bilal; Can, Salim; Basaran, Kemal Erdem; Canatan, Mehmed Fatih; Ozcan, Alper; Erkmen, Hasret; Leblebici, Can Berk; Yilmaz, Ebru; Karakukcu, Musa; Kose, Mehmet; Canoz, Ozlem; Özen, Ahmet; Karakoc-Aydiner, Elif; Ceylaner, Serdar; Gümüş, Gülsüm; Per, Huseyin; Gumus, Hakan; Canatan, Halit; Ozcan, Servet; Dogu, Figen; Ikinciogullari, Aydan; Unal, Ekrem; Baris, Safa; Eken, Ahmet

Correction to: DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans

更正:DIAPH1 缺陷与人类主要 T 细胞、NK 细胞和 ILC 细胞缺陷相关

Azizoglu, Zehra Busra; Babayeva, Royala; Haskologlu, Zehra Sule; Acar, Mustafa Burak; Ayaz-Guner, Serife; Okus, Fatma Zehra; Alsavaf, Mohammad Bilal; Can, Salim; Basaran, Kemal Erdem; Canatan, Mehmed Fatih; Ozcan, Alper; Erkmen, Hasret; Leblebici, Can Berk; Yilmaz, Ebru; Karakukcu, Musa; Kose, Mehmet; Canoz, Ozlem; Özen, Ahmet; Karakoc-Aydiner, Elif; Ceylaner, Serdar; Gümüş, Gülsüm; Per, Huseyin; Gumus, Hakan; Canatan, Halit; Ozcan, Servet; Dogu, Figen; Ikinciogullari, Aydan; Unal, Ekrem; Baris, Safa; Eken, Ahmet

Neurological Complications in Children With Cancer: Experience From a Single Center in Türkiye

土耳其某中心癌症患儿的神经系统并发症:经验

Kara, Leyla; Unal, Ekrem; Per, Huseyin; Kumandas, Sefer; Canpolat, Mehmet; Elmali, Ferhan; Ozcan, Alper; Yilmaz, Ebru; Karakukcu, Musa; Ozdemir, Mehmet Akif; Patiroglu, Turkan; Gumus, Hakan

Evaluating the brainstem in children with breath-holding spells.

对患有屏气症的儿童进行脑干评估

Ozcora Gul Demet Kaya, Kumandas Sefer, Sagiroglu Ayse, Acer Niyazi, Doganay Selim, Yigit Huseyin, Canpolat Mehmet, Per Huseyin, Gumus Hakan

COQ4 Mutation Leads to Childhood-Onset Ataxia Improved by CoQ10 Administration

辅酶Q4基因突变导致儿童期发病的共济失调,补充辅酶Q10可改善病情。

Caglayan, Ahmet Okay; Gumus, Hakan; Sandford, Erin; Kubisiak, Thomas L; Ma, Qianyi; Ozel, A Bilge; Per, Huseyin; Li, Jun Z; Shakkottai, Vikram G; Burmeister, Margit

Magnetic Susceptibility Changes in the Basal Ganglia and Brain Stem of Patients with Wilson's Disease: Evaluation with Quantitative Susceptibility Mapping

威尔逊病患者基底神经节和脑干磁化率变化:定量磁化率成像评估

Doganay, Selim; Gumus, Kazim; Koc, Gonca; Bayram, Ayse Kacar; Dogan, Mehmet Sait; Arslan, Duran; Gumus, Hakan; Gorkem, Sureyya Burcu; Ciraci, Saliha; Serin, Halil Ibrahim; Coskun, Abdulhakim

A Family with Mental Retardation, Epilepsy and Cerebellar Hypoplasia Showing Linkage to Chromosome 20p11.21-q11.23

一个患有智力低下、癫痫和小脑发育不全的家族,其疾病与20号染色体p11.21-q11.23区域存在连锁关系

Bayrakli, Fatih; Canpolat, Mehmet; Per, Huseyin; Gumus, Hakan; Kumandas, Sefer; Kartal, Ugur; Balaban, Hatice

Two female siblings with West syndrome: Familial idiopathic West syndrome with genetic susceptibility and variable phenotypic expression

两名患有韦斯特综合征的女性姐妹:家族性特发性韦斯特综合征,具有遗传易感性和表型表达多样性。

Caglayan, Ahmet Okay; Gumus, Hakan; Kato, Mitsuhiro