Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights
Yiş, Uluç, Becker, Kerstin, Kurul, Semra Hız, Uyanik, Gökhan, Bayram, Erhan, Haliloğlu, Göknur, Polat, Ayşe İpek, Ayanoğlu, Müge, Okur, Derya, Tosun, Ayşe Fahriye, Serdaroğlu, Gül, Yilmaz, Sanem, Topaloğlu, Haluk, Anlar, Banu, Cirak, Sebahattin, Engel, Andrew G
Published in Journal of child neurology (01.07.2017)
Published in Journal of child neurology (01.07.2017)
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Journal Article
Cerebellar volume in early-onset schizophrenia and its association with severity of symptoms
Özbek, Aylin, Göçmen Mas, Nüket, Turan, Serkan, Ay, Bari, Serim Demirgören, Burcu, Nilüfer Yonguç, Gökşin, Karabekir, Selim, İpek Polat, Ayşe, Semra Hız, Ayşe, Gencer Kıdak, Özlem
Published in Journal of international medical research (01.01.2019)
Published in Journal of international medical research (01.01.2019)
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Journal Article
Cerebellar volumes in early-onset bipolar disorder: a pilot study of a stereological measurement technique
Demirgören, Burcu Serim, Özbek, Aylin, Göçmen Karabekir, Nüket, Ay, Bari, Turan, Serkan, Yonguç, Gökşin Nilüfer, Karabekir, Selim, Polat, Ayşe İpek, Hız, Ayşe Semra, Gencer Kıdak, Özlem
Published in Klinik psikofarmakoloji bülteni (03.07.2019)
Published in Klinik psikofarmakoloji bülteni (03.07.2019)
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Journal Article
Clinical predictors of drug resistant epilepsy in children
KaraoĞlu, Pakİze, YİŞ, UluÇ, Polat, AyŞe İpek, AyanoĞlu, MÜge, Hiz, AyŞe Semra
Published in Turkish journal of medical sciences (28.06.2021)
Published in Turkish journal of medical sciences (28.06.2021)
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Journal Article
Evaluation of Autonomic Dysfunction in Pediatric Migraine Patients
Aykol, Duygu, Demir, Nurhak, Polat, Ayşe İpek, Öztura, İbrahim, Yiş, Uluç, Hız, Ayşe Semra
Published in Izmir Dr. Behçet Uz Çocuk Hastanesi dergisi (27.08.2024)
Published in Izmir Dr. Behçet Uz Çocuk Hastanesi dergisi (27.08.2024)
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Journal Article
Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA
Karaoglu, Pakize, Quizon, Nicolas, Pergande, Matthias, Wang, Haicui, Polat, Ayşe Ipek, Ersen, Ayca, Özer, Erdener, Willkomm, Lena, Hiz Kurul, Semra, Heredia, Raúl, Yis, Uluç, Selcen, Duygu, Çirak, Sebahattin
Published in Brain & development (Tokyo. 1979) (01.04.2017)
Published in Brain & development (Tokyo. 1979) (01.04.2017)
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Journal Article
An infant with hypomotor seizures and cutaneous lesions
Yiş, Uluç, Ayanoğlu, Müge, Polat, Ayşe İpek, Güleryüz, Handan, Kurul, Semra Hız
Published in Acta neurologica Belgica (01.12.2015)
Published in Acta neurologica Belgica (01.12.2015)
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Journal Article
Evaluation of vitamin D status in children with refractory epilepsy
Karaoğlu, Pakize, Polat, Ayşe İpek, Ayanoğlu, Müge, Yiş, Uluç, Hız, Semra
Published in Izmir Dr. Behçet Uz Çocuk Hastanesi dergisi (01.12.2014)
Published in Izmir Dr. Behçet Uz Çocuk Hastanesi dergisi (01.12.2014)
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Journal Article
Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders
Armirola-Ricaurte, Camila, Zonnekein, Noortje, Koutsis, Georgios, Amor-Barris, Silvia, Pelayo-Negro, Ana Lara, Atkinson, Derek, Efthymiou, Stephanie, Turchetti, Valentina, Dinopoulos, Argyris, Garcia, Antonio, Karakaya, Mert, Moris, German, Polat, Ayşe Ipek, Yiş, Uluç, Espinos, Carmen, Van de Vondel, Liedewei, De Vriendt, Els, Karadima, Georgia, Wirth, Brunhilde, Hanna, Michael, Houlden, Henry, Berciano, Jose, Jordanova, Albena
Published in Genetics in medicine (01.06.2024)
Published in Genetics in medicine (01.06.2024)
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An Unusual Presentation of Leber Hereditary Optic Neuropathy-Plus Case Caused by a Novel DNAJC30 Variant
Şenol, Hüseyin Bahadır, Soydemir, Didem, Polat, Ayşe İpek, Aydın, Adem, Hız, Ayşe Semra, Yiş, Uluç
Published in American journal of medical genetics. Part A (15.10.2024)
Published in American journal of medical genetics. Part A (15.10.2024)
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Journal Article
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
Ghosh, Shereen G., Becker, Kerstin, Huang, He, Dixon-Salazar, Tracy, Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten, Wang, Haicui, Vaux, Keith K., Stanley, Valentina, Manole, Andreea, Akpulat, Ugur, Weiss, Marjan M., Efthymiou, Stephanie, Hanna, Michael G., Minetti, Carlo, Striano, Pasquale, Pisciotta, Livia, De Grandis, Elisa, Altmüller, Janine, Weixler, Lisa, Nürnberg, Peter, Thiele, Holger, Yis, Uluc, Okur, Tuncay Derya, Polat, Ayse Ipek, Amiri, Nafise, Doosti, Mohammad, Karimani, Ehsan Ghayoor, Toosi, Mehran B., Haddad, Gabriel, Karakaya, Mert, Wirth, Brunhilde, van Hagen, Johanna M., Wolf, Nicole I., Maroofian, Reza, Houlden, Henry, Cirak, Sebahattin, Gleeson, Joseph G.
Published in American journal of human genetics (06.09.2018)
Published in American journal of human genetics (06.09.2018)
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Journal Article
The impacts of poor glycemic control and disease duration on peripheral nerves in children and adolescents with type 1 diabetes mellitus
Ayanoğlu, Müge, Yiş, Uluç, Ünver Tuhan, Hale, Polat, Ayşe İpek, Okur, Tuncay Derya, Edem, Pınar, Paketçi, Cem, Bayram, Erhan, Abacı, Ayhan, Hız, Semra
Published in Neurology Asia (01.06.2022)
Published in Neurology Asia (01.06.2022)
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Journal Article
Mycoplasma pneumoniae infeksiyonu ile ilişkili, anti-gangliyosit antikorların negatif olduğu Fisher-Bickerstaff sendromu
Yiş, Uluç, Karaoğlu, Pakize, Polat, Ayşe İpek, Ayanoğlu, Müge, Güleryüz, Handan, Hız, Semra
Published in Izmir Dr. Behçet Uz Çocuk Hastanesi dergisi (2014)
Published in Izmir Dr. Behçet Uz Çocuk Hastanesi dergisi (2014)
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Journal Article
COL4A1-related autosomal recessive encephalopathy in 2 Turkish children
Yaramis, Ahmet, Lochmüller, Hanns, Töpf, Ana, Sonmezler, Ece, Yilmaz, Elmasnur, Hiz, Semra, Yis, Uluc, Gungor, Serdal, Ipek Polat, Ayse, Edem, Pinar, Beltran, Sergi, Laurie, Steven, Yaramis, Aysenur, Horvath, Rita, Oktay, Yavuz
Published in Neurology. Genetics (01.02.2020)
Published in Neurology. Genetics (01.02.2020)
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Journal Article
Identification of the largest homozygous glycine decarboxylase gene deletion in a Turkish infant
Gürsoy, Semra, Ataman, Esra, Bozkaya, Özlem Giray, Köse, Engin, Ayanoğlu, Müge, Polat, Ayşe İpek, Arslan, Nur, Kurul, Semra Hız, Erçal, Derya
Published in Pediatrics and neonatology (01.12.2018)
Published in Pediatrics and neonatology (01.12.2018)
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Journal Article
Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia
Polat, Ayşe İpek, Yiş, Uluç, Ayanoğlu, Müge, Hız, Ayşe Semra, Güleryüz, Handan, Öztürk Atasoy, Tülay, Boerkoel, Cornelius F
Published in Turkish journal of pediatrics (01.09.2015)
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Published in Turkish journal of pediatrics (01.09.2015)
Journal Article
Evaluation of Autonomic Dysfunction in Pediatric Migraine Patients/ Pediatrik Migrenli Hastalarda Otonomik Disfonksiyonun Degerlendirilmesi
Aykol, Duygu, Demir, Nurhak, Polat, Ayse Ipek, Oztura, Ibrahim, Yis, Uluc, Hiz, Ayse Semra
Published in Izmir Dr. Behçet Uz Çocuk Hastanesi dergisi (01.08.2024)
Published in Izmir Dr. Behçet Uz Çocuk Hastanesi dergisi (01.08.2024)
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Journal Article
Targeted sequencing with expanded gene profile enables high diagnostic yield in non‐5q‐spinal muscular atrophies
Karakaya, Mert, Storbeck, Markus, Strathmann, Eike A., Delle Vedove, Andrea, Hölker, Irmgard, Altmueller, Janine, Naghiyeva, Leyla, Schmitz‐Steinkrüger, Lea, Vezyroglou, Katharina, Motameny, Susanne, Alawbathani, Salem, Thiele, Holger, Polat, Ayse Ipek, Okur, Derya, Boostani, Reza, Karimiani, Ehsan Ghayoor, Wunderlich, Gilbert, Ardicli, Didem, Topaloglu, Haluk, Kirschner, Janbernd, Schrank, Bertold, Maroofian, Reza, Magnusson, Olafur, Yis, Uluc, Nürnberg, Peter, Heller, Raoul, Wirth, Brunhilde
Published in Human mutation (01.09.2018)
Published in Human mutation (01.09.2018)
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