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H

Hüseyin Per

faculty of medicine

31H指数
295论文数
3.4K被引数
收录论文 34
发表时间
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“Severe intellectual disability with cardiac and dermatologic involvement due to homozygous METTL23 frameshift mutation: a case report of two Turkish sisters”
errNeurological Sciences
IF2.4
err2026-07-20
err0
PREAI
errMücahid Besnek; Büşra Aynekin; Ayten Güleç; Stephanie Efthymiou; Hüseyin Per
err分享
err收藏
Clinical phenotypes and early treatment escalation in pediatric acute drug-induced dystonia: A tertiary emergency department cohort study儿科急性药物诱导性肌张力障碍的临床表型及早期治疗升级：一项三级急诊科队列研究
errEuropean Journal of Pediatrics
IF2.6
err2026-07-09
err0
PREAI
errYılmaz Seçilmiş; Ayşe Cansu Salmanoğlu; Gülşah Kartal; Muhammet Sami Kayan; Hüseyin Per
err分享
err收藏
Iatrogenic Botulism Following Botulinum Toxin Injection in a Child With Cerebral Palsy: A Case Report医源性肉毒中毒：一例脑瘫儿童接受肉毒毒素注射后的病例报告
errJOURNAL OF CHILD NEUROLOGY
IF1.6
err2026-05-01
err0
PREAI
errOzturk, Selcan; Sutbeyaz, Serap Tomruk; Per, Huseyin
err分享
err收藏
When a Seizure Affects the Lungs: Recurrent Postictal Neurogenic Pulmonary Edema in an Adolescent—A Case Report当癫痫影响肺部：青少年复发性发作后神经源性肺水肿—病例报告
errPediatric Pulmonology
IF2.3
err2026-04-30
err0
PREAI
errElif Duygu Kutbe; Huseyin Per; Mehmet Kose
err分享
err收藏
Neonatal-Onset Genetic Epilepsies: Insights from a Large Multicentre Cohort新生儿期发病的遗传性癫痫：来自大型多中心队列的见解
errSeizure: European Journal of Epilepsy
IF0
err2026-04-28
err0
PREAI
errGunce Basarir; Pınar Gençpınar; Sema Bozkaya Yılmaz; Berk Özyılmaz; Nihal Olgaç Dündar; Dilşad Türkdoğan; Sermin Özcan; Hamza Polat; Burcu Karakayalı; Gülten Öztürk; Olcay Ünver; Ali Cansu; Nihal Yıldız; Pınar Özkan Kart; Kürşad Aydın; Yasemin Topçu; Esra Özpınar; Sanem Yılmaz; Seda Kanmaz; Hüseyin Per
err分享
err收藏
Distinct mutational signature and clonal evolution in constitutional mismatch repair deficiency-associated high-grade gliomas独特的突变特征和克隆进化在遗传性错配修复缺陷相关的高级别胶质瘤中
erriScience
IF4.1
err2026-02-14
err0
errOAAI
errChang Li; E. Zeynep Erson-Omay; Yavuz Koksal; Ekrem Unal; Buket Kara; Kaya Bilguvar; Yahya Paksoy; Nimetullah Alper Durmus; Ali Kurtsoy; Huseyin Per; John Rosendahl Østergaard; Murat Günel; Ahmet Okay Çağlayan
err分享
err收藏
L-DOPA in diurnal fluctuating dystonia: two different clinical presentations, one treatmentL-DOPA在日间波动性肌张力障碍中的两种不同临床表现，一种治疗方法
errNEUROGENETICS
IF1.2
err2025-12-02
err0
PREAI
errKaratas, Beyza; Gulec, Ayten; Yigitsezer, Omer; Gumus, Hakan; Aynekin, Busra; Efthymiou, Stephanie; Kardas, Fatih; Per, Huseyin
err分享
err收藏
Polysomnographic and clinical features of childhood non-REM parasomnias: A sleep center experience儿童非快速眼动睡眠期障碍的多导睡眠图特征和临床特征：一项睡眠中心研究经验
errBRAIN & DEVELOPMENT
IF1.3
err2025-10-01
err0
PREAI
errCiplakligil, Asli; Gok, Duygu Kurt; Per, Huseyin; Ismailogullari, Sevda
err分享
err收藏
DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans (vol 44, 175, 2024)
errJOURNAL OF CLINICAL IMMUNOLOGY
IF5.7
err2024-11-16
err0
errOAAI
errAzizoglu, 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; Ozen, Ahmet; Karakoc-Aydiner, Elif; Ceylaner, Serdar; Gumus, Gulsum; Per, Huseyin; Gumus, Hakan; Canatan, Halit; Ozcan, Servet; Dogu, Figen; Ikinciogullari, Aydan; Unal, Ekrem; Baris, Safa; Eken, Ahmet
err分享
err收藏
DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans
errJOURNAL OF CLINICAL IMMUNOLOGY
IF5.7
err2024-08-09
err1
errOAAI
errAzizoglu, 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; Ozen, Ahmet; Karakoc-Aydiner, Elif; Ceylaner, Serdar; Gumus, Guelsuem; Per, Huseyin; Gumus, Hakan; Canatan, Halit; Ozcan, Servet; Dogu, Figen; Ikinciogullari, Aydan; Unal, Ekrem; Baris, Safa; Eken, Ahmet
err分享
err收藏
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy
errNEUROLOGY-GENETICS
IF3.7
err2024-08-01
err0
errOAAI
errClara-Hwang, Angela; Stefani, Stefani; Lau, Tracy; Scala, Marcello; Aynekin, Busra; Bernardo, Pia; Madia, Francesca; Bakhtadze, Sophia; Kaiyrzhanov, Rauan; Maroofian, Reza; Zara, Federico; Srinivasan, Varunvenkat M.; Gowda, Vykuntaraju; Guliyeva, Ulviyya; Montavont, Alexandra; Poulat, Anne-Lise; Guelec, Ayten; Berger, Colette; Ville, Dorothee M.; de Bellescize, Julitta; Cabet, Sara; Wonneberger, Antje; Schulz, Alexander; Rodriguez-Palmero, Agusti; Chatron, Nicolas; Lesca, Gaetan; Per, Hueseyin; Goel, Himanshu; Brown, Janis; Frey, Tanja; Steindl, Katharina; Rauch, Anita; Severino, Mariasavina; Houlden, Henry; Nicolaides, Paola; Striano, Pasquale; Efthymiou, Stephanie
err分享
err收藏
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-02-19
err3
errOAAI
errHarms, Frederike L.; Rexach, Jessica Erin; Efthymiou, Stephanie; Aynekin, Busra; Per, Huseyin; Gulec, Ayten; Nampoothiri, Sheela; Sampaio, Hugo; Sachdev, Rani; Stoeva, Radka; Myers, Kasiani; Pena, Loren D. M.; Kalfa, Theodosia A.; Chard, Marisa; Klassen, Megan; Pries, Megan; Kutsche, Kerstin
err分享
err收藏
Pediatric-Onset Chronic Inflammatory Demyelinating Polyneuropathy: A Multicenter Study
errPEDIATRIC NEUROLOGY
IF2.1
err2023-08-01
err1
PREAI
errUzan, Gamze Sarikaya; Vural, Atay; Yuksel, Deniz; Aksoy, Erhan; Oztoprak, Ulkuhan; Canpolat, Mehmet; Ozturk, Selcan; Yildirim, Celebi; Gulec, Ayten; Per, Huseyin; Gumus, Hakan; Okuyaz, Cetin; Direk, Meltem Cobanoullari; Kosmur, Mustafa; Unalp, Aycan; Yilmaz, Unsal; Bektas, Omer; Teber, Serap; Aliyeva, Nargiz; Dundar, Nihal Olgac; Gencpinar, Pinar; Gurkas, Esra; Yilmaz, Sanem Keskin; Kanmaz, Seda; Tekgtil, Hasan; Aksoy, Ayse; Tuncer, Gokcen Oz; Arslan, Elif Acar; Tosun, Ayse; Ayanoglu, Muge; Kizilirmak, Ali Burak; Yousefi, Mohammadreza; Bodur, Muhittin; Unay, Bulent; Kurul, Semra Hiz; Yis, Uluc
err分享
err收藏
Immunodeficiency associated with a novel functionally defective variant of SLC19A1 benefits from folinic acid treatment
errGENES AND IMMUNITY
IF4.5
err2022-12-15
err3
errOAAI
errGok, Veysel; Erdem, Serife; Haliloglu, Yesim; Bisgin, Atil; Belkaya, Serkan; Basaran, Kemal Erdem; Canatan, Mehmed Fatih; Ozcan, Alper; Yilmaz, Ebru; Acipayam, Can; Karakukcu, Musa; Canatan, Halit; Per, Huseyin; Patiroglu, Turkan; Eken, Ahmet; Unal, Ekrem
err分享
err收藏
Congenital Myasthenic Syndromes in Turkey: Clinical and Molecular Characterization of 16 Cases With Three Novel Mutations
errPEDIATRIC NEUROLOGY
IF2.1
err2022-11-01
err6
PREAI
errOzturk, Selcan; Gulec, Ayten; Erdogan, Murat; Demir, Mikail; Canpolat, Mehmet; Gumus, Hakan; Caglayan, Ahmet Okay; Dundar, Munis; Per, Huseyin
err分享
err收藏
Evaluation of immunization status in patients with cerebral palsy: a multicenter CP-VACC study
errEUROPEAN JOURNAL OF PEDIATRICS
IF2.6
err2021-08-05
err3
errOAAI
errBozkaya-Yilmaz, Sema; Karadag-Oncel, Eda; Olgac-Dundar, Nihal; Gencpinar, Pinar; Sarioglu, Berrak; Arican, Pinar; Ersen, Atilla; Yilmaz-Ciftdogan, Dilek; Yuksel, Merve Feyza; Bektas, Omer; Teber, Serap; Kilic, Betul; Calik, Mustafa; Karaca, Meryem; Canpolat, Mehmet; Kumandas, Sefer; Per, Huseyin; Gumus, Hakan; Ozturk, Selcan; Okuyaz, Cetin; Komur, Mustafa; Ipek, Rojan; Ozbudak, Pinar; Arhan, Ebru; Ince, Hulya; Gurbuz, Gurkan; Mert, Gulen Gul; Ozcan, Neslihan; Turker, Akgun Olmez; Gazeteci-Tekin, Hande; Kirik, Serkan; Gunbey, Ceren; Carman, Kursat Bora; Yarar, Coskun; Cavusoglu, Dilek
err分享
err收藏
Electroencephalogram abnormalities in patients with NREM parasomnias
errSLEEP MEDICINE
IF3.4
err2021-01-01
err2
PREAI
errSarilar, Ayse Caglar; Ismailogullari, Sevda; Yilmaz, Rezzak; Erdogan, Fusun Ferda; Per, Huseyin
err分享
err收藏
Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking
errFRONTIERS IN NEUROSCIENCE
IF3.2
err2019-10-14
err11
errOAAI
errWang, Haicui; Bayram, Ayse Kacar; Sprute, Rosaenn; Ozdemir, Ozkan; Cooper, Emily; Pergande, Matthias; Efthymiou, Stephanie; Nedic, Ivana; Mazaheri, Neda; Stumpfe, Katharina; Malamiri, Reza Azizi; Shariati, Gholamreza; Zeighami, Jawaher; Bayram, Nurettin; Naghibzadeh, Seyed Kianoosh; Tajik, Mohamad; Yasar, Mehmet; Guven, Ahmet Sami; Bibi, Farah; Sultan, Tipu; Salpietro, Vincenzo; Houlden, Henry; Per, Huseyin; Galehdari, Hamid; Shalbafan, Bita; Jamshidi, Yalda; Cirak, Sebahattin
err分享
err收藏
Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome
errANNALS OF NEUROLOGY
IF7.7
err2018-10-04
err21
errOAAI
errGuemez-Gamboa, Alicia; Caglayan, Ahmet Okay; Stanley, Valentina; Gregor, Anne; Zaki, Maha S.; Saleem, Sahar N.; Musaev, Damir; McEvoy-Venneri, Jennifer; Belandres, Denice; Akizu, Naiara; Silhavy, Jennifer L.; Schroth, Jana; Rosti, Rasim Ozgur; Copeland, Brett; Lewis, Steven M.; Fang, Rebecca; Issa, Mahmoud Y.; Per, Huseyin; Gumus, Hakan; Bayram, Ayse Kacar; Kumandas, Sefer; Akgumus, Gozde Tugce; Erson-Omay, Emine Z.; Yasuno, Katsuhito; Bilguvar, Kaya; Heimer, Gali; Pillar, Nir; Shomron, Noam; Weissglas-Volkov, Daphna; Porat, Yuval; Einhorn, Yaron; Gabriel, Stacey; Ben-Zeev, Bruria; Gunel, Murat; Gleeson, Joseph G.
err分享
err收藏
Two novel missense variants of FGFR2 gene in two patients with Pfeiffer Syndrome Type 3
errJOURNAL OF BIOTECHNOLOGY
IF3.9
err2018-08-01
err0
PREAI
errDogan, Muhammet Ensar; Dundar, Bilge; Gunes, Meltem Cerrah; Bayramov, Ruslan; Karaduman, Neslihan Kilic; Per, Huseyin; Dundar, Munis
err分享
err收藏

研究方向

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