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

Nusinersen for children with type I spinal muscular atrophy: 4 years' clinical experience in Turkish cohort

Nusinersen治疗I型脊髓性肌萎缩症患儿:土耳其队列4年临床经验

Bektaş, Ömer; Gülşen, Murat; Dursun, Onur Burak; Tekin, Ahmet; Yüksel, Deniz; Demir, Ercan; Öztürk, Gülten; Saltık, Sema; Hergüler, Özlem; Özçelik, Ayşe Aysima; Tan, Hüseyin; Özgör, Bilge; Ekici, Arzu; Yüksel, Merve Feyza; Şahin, Süleyman; Duman, Özgür; Kömür, Mustafa; Baydan, Figen; Yıldız, Edibe Pembegül; Kara, Bülent; Yiş, Uluç; Kanmaz, Seda; Çarman, Kürşat Bora; Arslan, Elif Acar; Canpolat, Mehmet; Güven, Ahmet Sami; Öztuncer, Gökçen; Ünalp, Aycan; Ardıçlı, Didem; Karaduman, Aynur Ayşe; Zararsız, Gökmen; Deda, Gülhis

Blended Phenotypes of Sexual Development Disorder and Coenzyme Q10 Deficiency, Together with a Sibling with Homozygous Variants in the AHI1 Gene

性发育障碍和辅酶Q10缺乏症的混合表型,以及其兄弟姐妹携带AHI1基因纯合变异

Atasay, Rumeysa; Yilmaz, Leyla Nur; Gulec, Ayten; Canpolat, Mehmet; Per, Huseyin; Kardas, Fatih; Ozsait Selcuk, Bilge; Karaman, Birsen; Kiraz, Aslihan; Dundar, Munis

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

Clinical and genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature

硫胺素代谢功能障碍综合征-4的临床和遗传学研究:病例系列及文献综述

Samur, Bahadir M; Gümüş, Gülsüm; Canpolat, Mehmet; Gümüş, Hakan; Per, Hüseyin; Cağlayan, Ahmet Okay

Long-Term Follow-Up of Patients with a Diagnosis of Posterior Reversible Encephalopathy Syndrome

对诊断为后部可逆性脑病综合征的患者进行长期随访

Canpolat, Mehmet; Kaya Özçora, Gül Demet; Poyrazoğlu, Hakan; Per, Huseyin; Çoşkun, Abdulhakim; Gümüş, Hakan; Arslan, Duran; Ünal, Ekrem; Karakükçü, Musa; Patıroğlu, Türkan; Kumandaş, Sefer

Levels of Salivary Sialic Acid in Children with Autism Spectrum Disorder; Could It Be Related to Stereotypes and Hyperactivity?

自闭症谱系障碍儿童唾液中唾液酸的水平;这可能与刻板行为和多动症有关吗?

Demirci, Esra; Guler, Yunus; Ozmen, Sevgi; Canpolat, Mehmet; Kumandas, Sefer

Glutaric Acidemia Type 1: A Case of Infantile Stroke

戊二酸血症1型:一例婴儿卒中病例

Kaya Ozcora, Gül Demet; Gokay, Songul; Canpolat, Mehmet; Kardaş, Fatih; Kendirci, Mustafa; Kumandaş, Sefer

Neurological features and management of Wilson disease in children: an evaluation of 12 cases

儿童威尔逊病的神经系统特征及治疗:12例病例评估

Bayram, Ayşe Kaçar; Gümüş, Hakan; Arslan, Duran; Özçora, Güldemet Kaya; Kumandaş, Sefer; Karacabey, Neslihan; Canpolat, Mehmet; Per, Hüseyin

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