Zobrazeno 1 - 10
of 179
pro vyhledávání: '"Hüseyin Per"'
Publikováno v:
The Journal of Pediatric Academy, Vol 4, Iss 4, Pp 149-151 (2023)
Pentasomy X syndrome is a very rare sex chromosome numerical anomaly of unknown frequency. The karyotype consists of 49,XXXXX. Musculoskeletal, craniofacial, cardiac, and kidney anomalies accompany psychomotor developmental delays. This report descri
Externí odkaz:
https://doaj.org/article/c18773445fdf401297b58880608f6a0c
Autor:
Mehmet Fatih Yetkin, Murat Gültekin, Merve Akçakoyunlu, Recep Baydemir, Ayşe Sarılar, Mehmet Canpolat, Hüseyin Per
Publikováno v:
Türk Nöroloji Dergisi, Vol 28, Iss 2, Pp 97-101 (2022)
Objective: Friedreich ataxia (FRDA) is the most frequent hereditary ataxia characterized by progressive gait and limb ataxia, dysarthria, sensory loss, and muscular weakness. Due to insufficient awareness of patients and their relatives, poor knowled
Externí odkaz:
https://doaj.org/article/6c572763160e40ecbaf371fecde14e5f
Publikováno v:
The Journal of Pediatric Academy, Vol 2, Iss 3, Pp 106-110 (2021)
Background: Restless Legs Syndrome (RLS), which may be a missed diagnosis in children, is seen at an important frequency. This study’s aim was to investigate the clinical characteristics of patients with RLS and to show the effect of RLS on school
Externí odkaz:
https://doaj.org/article/03f4add7eb6a4f5ea58b513860f02010
Autor:
Pembe Soylu Üstkoyuncu, Mustafa Kendirci, Songül Gökay, Fatih Kardaş, Hakan Gümüş, Hüseyin Per, Hatice Gamze Poyrazoğlu, Ayşe Kaçar Bayram, Mehmet Canpolat, Sefer Kumandaş
Publikováno v:
Türk Nöroloji Dergisi, Vol 26, Iss 3, Pp 250-252 (2020)
Argininemia is an autosomal recessive urea cycle disorder caused by the deficiency of arginase. Our first case presented with psychomotor retardation, difficulty of walking, and progressive tiptoeing. Laboratory investigations revealed mildly elevate
Externí odkaz:
https://doaj.org/article/503933fff92c43379d331ccc28772cd4
Publikováno v:
Türk Uyku Tıbbı Dergisi, Vol 6, Iss 3, Pp 88-92 (2019)
Objective:Medical students are under the risk of developing sleep disorders due to heavy curriculum and long studying hours. This condition causes sleep disorders to occur more frequently in medical faculty students compared to the normal society. Th
Externí odkaz:
https://doaj.org/article/d6d51809264145fdb4c3dc5ea65b25a3
Autor:
Haicui Wang, Ayşe Kaçar Bayram, Rosanne Sprute, Ozkan Ozdemir, Emily Cooper, Matthias Pergande, Stephanie Efthymiou, Ivana Nedic, Neda Mazaheri, Katharina Stumpfe, Reza Azizi Malamiri, Gholamreza Shariati, Jawaher Zeighami, Nurettin Bayram, Seyed Kianoosh Naghibzadeh, Mohamad Tajik, Mehmet Yaşar, Ahmet Sami Güven, Farah Bibi, Tipu Sultan, Vincenzo Salpietro, Henry Houlden, Hüseyin Per, Hamid Galehdari, Bita Shalbafan, Yalda Jamshidi, Sebahattin Cirak
Publikováno v:
Frontiers in Neuroscience, Vol 13 (2019)
Charcot-Marie-Tooth type 4 (CMT4) is an autosomal recessive severe form of neuropathy with genetic heterogeneity. CMT4B1 is caused by mutations in the myotubularin-related 2 (MTMR2) gene and as a member of the myotubularin family, the MTMR2 protein i
Externí odkaz:
https://doaj.org/article/af45cf4def1647cbbe24bfce1e5d146f
Autor:
Gamze Sarıkaya Uzan, Atay Vural, Deniz Yüksel, Erhan Aksoy, Ülkühan Öztoprak, Mehmet Canpolat, Selcan Öztürk, Çelebi Yıldırım, Ayten Güleç, Hüseyin Per, Hakan Gümüş, Çetin Okuyaz, Meltem Çobanoğulları Direk, Mustafa Kömür, Aycan Ünalp, Ünsal Yılmaz, Ömer Bektaş, Serap Teber, Nargiz Aliyeva, Nihal Olgaç Dündar, Pınar Gençpınar, Esra Gürkaş, Sanem Keskin Yılmaz, Seda Kanmaz, Hasan Tekgül, Ayşe Aksoy, Gökçen Öz Tuncer, Elif Acar Arslan, Ayşe Tosun, Müge Ayanoğlu, Ali Burak Kızılırmak, Mohammadreza Yousefi, Muhittin Bodur, Bülent Ünay, Semra Hız Kurul, Uluç Yiş
Publikováno v:
Pediatric Neurology. 145:3-10
Autor:
Veysel Gök, Gülsüm Gümüş, Habibe Selver Durmuş, Ekrem Ünal, Hakan Gümüş, Musa Karakükcü, Ayşe Kaçar Bayram, Hüseyin Per
Publikováno v:
Trends in Pediatrics. 3:120-125
Autor:
Gül Demet Kaya Özçora, Elif Söbü, Mehmet Canpolat, Fatih Kardaş, Mustafa Kendirci, Hakan Gümüş, Hüseyin Per, Sefer Kumandaş
Publikováno v:
Trends in Pediatrics. 3:149-155
Autor:
Abdulfettah Tümtürk, Nimetullah Alper Durmuş, Süreyya Burcu Görkem, Murat Çiftçi, Mehmet Canpolat, Hüseyin Per
Publikováno v:
Journal of Surgery and Medicine. 6:756-761
Background/Aim: Arachnoid cysts (ACs) are the collection of fluid, which is similar in composition to cerebrospinal fluid, within the congenitally duplicated arachnoid membrane. ACs are clinically silent lesions, but sometimes they can manifest thems