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Göknur Haliloğlu

hacettepe university

33H指数
233论文数
4.7K被引数
收录论文 54
发表时间
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Cardiac involvement in neurofibromatosis type 1: real-world baseline and follow-up findings from a tertiary single-center cohort神经纤维瘤病1型的心脏受累：来自三级单中心队列的真实世界基线和随访结果
errEuropean Journal of Pediatrics
IF2.6
err2026-09-19
err0
PREAI
errSibel Öz Yıldız; Maharram İmanlı; Hayrettin Hakan Aykan; İlker Ertuğrul; Dilek Yalnızoğlu; Göknur Haliloğlu
err分享
err收藏
Clinical Variability and Genotype-Driven Outcomes in CHRND-Related Congenital Myasthenic SyndromeCHRND相关先天性肌无力综合征的临床变异性和基因型驱动的结局
errEuropean Journal of Neurology
IF3.9
err2026-09-04
err0
errOAAI
errDavid Muhmann; Göknur Haliloğlu; Maria Antonia Grimalt; Damjan Osredkar; Ana Vesperinas Castro; Silvia Cerezo Corredera; Angela Abicht; Adalet Elçin Yıldız; Johann Böhm; Ulrike Schara-Schmidt; Anja Troha Gergeli; Berta Estevez-Arias; Elena Cortes Vicente; Andres Nascimento; Adela Della Marina; Daniel Natera-de Benito; Andreas Roos
err分享
err收藏
Pediatric recurrent intracranial hypertension secondary to All-Trans Retinoic Acid treatment in a patient with acute promyelocytic leukemia: value of retinal nerve fiber layer thickness in management急性早幼粒细胞白血病患者接受全反式维甲酸治疗后继发的儿童复发性颅内高压：视神经纤维层厚度在管理中的价值
errTurkish Journal of Pediatrics
IF0.8
err2026-05-01
err0
PREAI
errYavuz, Pinar; Yavas, Guliz Fatma; Aytac, Selin; Yalnizoglu, Dilek; Cangul, Sule Unal; Haliloglu, Goknur
err分享
err收藏
Pediatric Spinal Muscular Atrophy Patients Treated With Nusinersen: Experience From a Tertiary Referral Center in Turkey土耳其三级转诊中心应用nusinersen治疗儿童脊髓性肌萎缩患者的经验
errPediatric Neurology
IF2.1
err2026-05-01
err0
PREAI
errYildiz, Sibel Oz; Bulut, Numan; Alemdaroglu-Gurbuz, Ipek; Debbag, Sehend; Gocmen, Rahsan; Gulsen, Hayriye Hizarcioglu; Ozcelik, Ugur; Demirkiran, Gokhan; Kanbak, Meral; Tunca, Oznur; Yazici, Muharrem; Haliloglu, Goknur
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Hypertrophic cardiomyopathy as a novel phenotypic feature of NSUN3-related mitochondrial disease: a case report with review of the literature肥厚型心肌病作为NSUN3相关线粒体疾病的新的表型特征：一篇结合文献综述的病例报告
errJOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
IF1
err2026-02-01
err0
PREAI
errSenol Ersak, Ayse; Cagiran, Tugce; Kocyigit, Aysen; Ciki, Kismet; Yildiz, Yilmaz; Aypar, Ebru; Ketenci Islek, Serap; Simsek Kiper, Pelin Ozlem; Haliloglu, Goknur; Dursun, Ali
err分享
err收藏
Phenotypic continuum in IGHMBP2-related disorders: A portfolio of cases from typical to Guillain-Barré syndrome-like presentationIGHMBP2相关疾病的表型连续谱：从典型病例到类似吉兰-巴雷综合征表现的病例集
errNeuromuscular Disorders
IF2.8
err2025-12-16
err0
PREAI
errHaticeaş Bekt; Nagihan Şener; Neslihan Bilgin; Gizem Ürel Demir; İbrahim Öncel; Ülkühan Öztoprak; Çağrı Mesut Temuçin; Pelin Özlem Şimşek Kiper; Gülen Eda Utine; Göknur Haliloğlu
err分享
err收藏
Predictive role of muscle MRI in juvenile dermatomyositis: A tertiary center experience肌肉MRI在幼年皮肌炎中的预测作用：一家三级中心的经验
errEuropean Journal of Radiology
IF3.3
err2025-12-03
err0
PREAI
errSevtap Arslan; Adalet Elcin Yildiz; Yagmur Bayindir; Erdal Sag; Yelda Bilginer; Seza Ozen; Goknur Haliloglu
err分享
err收藏
ACTH-Induced Dyskinesia Mimics Autoimmune Encephalitis: A Case Report with Literature ReviewACTH诱导的运动障碍模拟自身免疫性脑炎：1例病例报告及文献综述
errMovement Disorders Clinical Practice
IF2.7
err2025-10-23
err0
PREAI
errHatice Bektaş Öntaş MD; Mehmet Baştemur MD; Göknur Haliloğlu MD
err分享
err收藏
Response to the letter by Mehta R and Sah R entitled “Developmental and/or epileptic encephalopathy with spike-and-wave activation in sleep: A single tertiary center experience”Mehta R和Sah R对题为“Developmental and/or epileptic encephalopathy with spike-and-wave activation in sleep: A single tertiary center experience”的信件的回应
errSeizure: European Journal of Epilepsy
IF0
err2025-09-04
err0
PREAI
errSibel Öz Yıldız; Ceren Günbey; Kader Karlı Oğuz; Gökçen Konuşkan; Göknur Haliloğlu; Dilek Yalnızoğlu
err分享
err收藏
Correspondence on “Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder” by Rawlins et al关于Rawlins等人“阐明肌醇多磷酸磷酸酶INPP4A相关神经发育障碍的临床和遗传谱”的通信
errGenetics in Medicine
IF6.2
err2025-08-07
err0
PREAI
errGöknur Haliloğlu; Erhan Özel; Gizem Ürel Demir; Rahşan Göçmen; Pelin Özlem Şimşek Kiper; Gülen Eda Utine
err分享
err收藏
Developmental and/or epileptic encephalopathy with spike-and-wave activation in sleep: A single tertiary center experience发育性和/或癫痫性脑病伴睡眠中棘波和慢波激活：一家三级中心的经验
errseizure european journal of epilepsy
IF0
err2025-06-13
err0
PREAI
errSibel Öz Yıldız; Ceren Günbey; Kader Karlı Oğuz; Gökçen Konuşkan; Göknur Haliloğlu; Dilek Yalnızoğlu
err分享
err收藏
The evolving genetic landscape of neuromuscular fetal akinesias神经肌肉性胎儿运动不能的演变遗传学图谱
errJOURNAL OF NEUROMUSCULAR DISEASES
IF3.4
err2025-05-13
err0
PREAI
errGöknur Haliloğlu; Gianina Ravenscroft
err分享
err收藏
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>TCOL6相关严重型肌营养不良的表征：由复发性变异COL6A1 c.930+189C>T引起
errBrain
IF11.7
err2025-04-03
err0
errOAAI
errA Reghan Foley; Véronique Bolduc; Fady Guirguis; Sandra Donkervoort; Ying Hu; Rotem Orbach; Riley M McCarty; Apurva Sarathy; Gina Norato; Beryl B Cummings; Monkol Lek; Anna Sarkozy; Russell J Butterfield; Janbernd Kirschner; Andrés Nascimento; Daniel Natera-de Benito; Susana Quijano-Roy; Tanya Stojkovic; Luciano Merlini; Giacomo Comi; Monique Ryan; Denise McDonald; Pinki Munot; Grace Yoon; Edward Leung; Erika Finanger; Meganne E Leach; James Collins; Cuixia Tian; Payam Mohassel; Sarah B Neuhaus; Dimah Saade; Benjamin T Cocanougher; Mary-Lynn Chu; Mena Scavina; Carla Grosmann; Randal Richardson; Brian D Kossak; Sidney M Gospe; Vikram Bhise; Gita Taurina; Baiba Lace; Monica Troncoso; Mordechai Shohat; Adel Shalata; Sophelia H S Chan; Manu Jokela; Johanna Palmio; Göknur Haliloğlu; Cristina Jou; Corine Gartioux; Herimela Solomon-Degefa; Carolin D Freiburg; Alvise Schiavinato; Haiyan Zhou; Sara Aguti; Yoram Nevo; Ichizo Nishino; Cecilia Jimenez-Mallebrera; Shireen R Lamandé; Valérie Allamand; Francesca Gualandi; Alessandra Ferlini; Daniel G MacArthur; Steve D Wilton; Raimund Wagener; Enrico Bertini; Francesco Muntoni; Carsten G Bönnemann
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Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets在基因组、外显子组和基因 panel 测序数据集中诊断脊髓性肌萎缩症漏诊病例
errGENETICS IN MEDICINE
IF6.2
err2024-12-01
err1
PREAI
errWeisburd, Ben; Sharma, Rakshya; Pata, Villem; Reimand, Tiia; Ganesh, Vijay S.; Austin-Tse, Christina; Osei-Owusu, Ikeoluwa; O'Heir, Emily; O'Leary, Melanie; Pais, Lynn; Stafki, Seth A.; Daugherty, Audrey L.; Folland, Chiara; Peric, Stojan; Fahmy, Nagia; Udd, Bjarne; Horakova, Magda; Lusakowska, Anna; Manoj, Rajanna; Nalini, Atchayaram; Karcagi, Veronika; Polavarapu, Kiran; Lochmuller, Hanns; Horvath, Rita; Bonnemann, Carsten G.; Donkervoort, Sandra; Haliloglu, Goknur; Herguner, Ozlem; Kang, Peter B.; Scott, Hamish S.; Topf, Ana; Straub, Volker; Pajusalu, Sander; Ounap, Katrin; Tiao, Grace; Rehm, Heidi L.; O'Donnell-Luria, Anne
err分享
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Frequency and Characteristics of Sleep Apnea Syndrome in Pediatric Patients with Duchenne Muscular Dystrophy
errEUROPEAN RESPIRATORY JOURNAL
IF21
err2024-10-30
err0
PREAI
errYavuz, Burcu Capraz; Yildiz, Sibel Oz; Buyuksahin, Halime Nayir; Ozel, Erhan; Ordukaya, Nagehan Emiralioglu; Aykan, Hayrettin Hakan; Yalcin, Ebru; Dogru, Deniz; Kiper, Emine Nural; Oztoprak, Ulkuhan; Yalnizoglu, Dilek; Haliloglu, Goknur; Ozcelik, Ugur
err分享
err收藏
Horizontal gaze palsy with progressive scoliosis: Further expanding the ROBO3 spectrum
errANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
err2024-06-21
err4
errOAAI
errGunbey, Ceren; Cavdarli, Busranur; Gocmen, Rahsan; Yazici, Muharrem; Temucin, Cagri Mesut; Ozdemir, Ozkan; Cirak, Sebahattin; Haliloglu, Goeknur
err分享
err收藏
Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias: Reflections from Turkey
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-01-01
err2
PREAI
errErsak, Ayse Senol; Cak, Halime Tuna; Yildiz, Yilmaz; Cavdar, Merve Kasikci; Tunc, Sila; Ozer, Nagihan; Zeltner, Nina A.; Huemer, Martina; Tokatli, Aysegul; Haliloglu, Goknur
err分享
err收藏
Proteomic Investigation of Differential Interactomes of Glypican 1 and a Putative Disease-Modifying Variant of Ataxia
errJOURNAL OF PROTEOME RESEARCH
IF3.6
err2023-08-16
err0
errOAAI
errWinter, Nur Cengiz; Karakaya, Mert; Mosen, Peter; Brusius, Isabell; Anlar, Banu; Haliloglu, Goknur; Winter, Dominic; Wirth, Brunhilde
err分享
err收藏
A Child with Refractory and Relapsing Anti-3-Hydroxy-3-Methylglutaryl-Coenzyme A Reductase Myopathy: Case-Based Review
errJOURNAL OF NEUROMUSCULAR DISEASES
IF3.4
err2023-03-07
err3
PREAI
errSener, Seher; Batu, Ezgi Deniz; Sari, Seher; Cuceoglu, Muserref Kasap; Yildiz, Adalet Elcin; Talim, Beril; Aydingoz, Ustun; Ozen, Seza; Haliloglu, Goknur
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err收藏
Practices of pediatric emergency physicians on the first febrile and afebrile seizures: a research in European Pediatric Emergency Medicine Survey Study
errEUROPEAN JOURNAL OF EMERGENCY MEDICINE
IF4.2
err2022-10-25
err0
PREAI
errTeksam, Ozlem; Serdaroglu, Esra; Haliloglu, Goknur; Konuskan, Bahadir; Yalnizoglu, Dilek
err分享
err收藏

研究方向

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合作学者
合作期刊
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Jay Shendure
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H 指数: 134 · 论文数: 1.8K
P
Peter Nürnberg
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W
William B. Dobyns
H 指数: 127 · 论文数: 600
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