Novel LNPK variant causes progressive cerebral atrophy: Expanding the clinical phenotype
Türkyılmaz, Ayberk, Sağer, Safiye Güneş, Günbey, Hediye Pınar, Akın, Yasemin
Published in Clinical genetics (01.09.2022)
Published in Clinical genetics (01.09.2022)
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Journal Article
Prediction of molecular phenotypes for novel SCN1A variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome
Teralı, Kerem, Türkyılmaz, Ayberk, Sağer, Safiye Güneş, Çebi, Alper Han
Published in Clinical and translational science (01.01.2024)
Published in Clinical and translational science (01.01.2024)
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Journal Article
A novel de novo TET3 loss-of-function variant in a Turkish boy presenting with neurodevelopmental delay and electrical status epilepticus during slow-wave sleep
Sager, Safiye Gunes, Turkyilmaz, Ayberk, Gunbey, Hediye Pınar, Karatoprak, Elif Yuksel, Aslan, Elif Sibel, Akın, Yasemin
Published in Brain & development (Tokyo. 1979) (01.02.2023)
Published in Brain & development (Tokyo. 1979) (01.02.2023)
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Journal Article
Identification of novel variants in Turkish families with non-syndromic congenital cataracts using whole-exome sequencing
Türkyılmaz, Ayberk, Kaplan, Ayşin Tuba, Öskan Yalçın, Sibel, Sağer, Safiye Güneş, Şimşek, Şaban
Published in International ophthalmology (01.12.2023)
Published in International ophthalmology (01.12.2023)
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Journal Article
Evaluation of the Mean Platelet Volume and Neutrophil/Lymphocyte Ratio, as Inflammatory Markers in Children with Autisim Spectrum Disorders
Safiye Güneş Sager, Köle, Mehmet Tolga, Batu, Utku, Kandemir, İbrahim, Pınar, Zeynep Vatansever, Akın, Yasemin
Published in Haydarpașa Numune Hastanesi tıp dergisi = The medical journal of Haydarpașa Numune Hospital (01.12.2023)
Published in Haydarpașa Numune Hastanesi tıp dergisi = The medical journal of Haydarpașa Numune Hospital (01.12.2023)
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Journal Article
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies
Accogli, Andrea, Zaki, Maha S, Al-Owain, Mohammed, Otaif, Mansour Y, Jackson, Adam, Argilli, Emanuela, Chandler, Kate E, De Goede, Christian G E L, Cora, Tülün, Alvi, Javeria Raza, Eslahi, Atieh, Asl Mohajeri, Mahsa Sadat, Ashtiani, Setareh, Au, P Y Billie, Scocchia, Alicia, Alakurtti, Kirsi, Pagnamenta, Alistair T, Toosi, Mehran Beiraghi, Karimiani, Ehsan Ghayoor, Mojarrad, Majid, Arab, Fatemeh, Duymuş, Fahrettin, Scantlebury, Morris H, Yeşil, Gözde, Rosenfeld, Jill Anne, Türkyılmaz, Ayberk, Sağer, Safiye Güneş, Sultan, Tipu, Ashrafzadeh, Farah, Zahra, Tatheer, Rahman, Fatima, Maqbool, Shazia, Abdel-Hamid, Mohamed S, Issa, Mahmoud Y, Efthymiou, Stephanie, Bauer, Peter, Zifarelli, Giovanni, Salpietro, Vincenzo, Al-Hassnan, Zuhair, Banka, Siddharth, Sherr, Elliot H, Gleeson, Joseph G, Striano, Pasquale, Houlden, Henry, Severino, Mariasavina, Maroofian, Reza
Published in Brain communications (2023)
Published in Brain communications (2023)
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A case of ocular flutter associated with sole anti-sulphatide antibody positivity: successful treatment with intravenous immunoglobulin in a pediatric patient
Akcay, Merve, Sager, Safiye Günes, Kaplan, Aysin Tuba, Alomari, Omar, Akin, Yasemin
Published in Acta neurologica Belgica (28.09.2024)
Published in Acta neurologica Belgica (28.09.2024)
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Journal Article
Calgary score and modified calgary score in the differential diagnosis between syncope and genetic generalized epilepsy in children
Köle, Mehmet Tolga, Sağer, Safiye Günes, Batu, Utku, Çetiner Çine, Nilüfer, Çağ, Yakup, Akin, Yasemin
Published in Scientific reports (31.07.2023)
Published in Scientific reports (31.07.2023)
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Assessment of the changing trends in maternal knowledge about management of fever and antibiotic use in the last decade in Türkiye
Sağer, Safiye Güneş, Batu, Utku, Karatoprak, Elif Yüksel, Çağ, Yakup, Ergüven, Müferet
Published in Turkish journal of pediatrics (01.03.2023)
Published in Turkish journal of pediatrics (01.03.2023)
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Journal Article
Coexistence of longitudinally extensive transverse myelitis and diffuse midline glioma in the brainstem in an adolescent boy with acute flaccid paralysis
Caliskan, Emine, Sager, Safiye Gunes, Yukselmis, Ufuk, Kilic, Ahmet Kasim, Gunbey, Hediye Pınar
Published in Child's nervous system (2024)
Published in Child's nervous system (2024)
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Comprehensive exploration of FCHO1 mutations: Clinical manifestations and implications across disorders
Alomari, Omar, Ertan, Sinem Nur, Mokresh, Muhammed Edib, Yazicilar, Elif, Pourali, Maryam, Akyokus, Fatma Esra, Sager, Safiye Gunes, Cag, Yakup
Published in American journal of medical genetics. Part A (21.08.2024)
Published in American journal of medical genetics. Part A (21.08.2024)
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Journal Article
Novel SH3PXD2B variant identified by whole-exome sequencing in a Turkish newborn with Frank-Ter Haar Syndrome
Türkyilmaz, Ayberk, Sager, Safiye Gunes, Topcu, Bahtisen, Kaplan, Aysin Tuba, Günbey, Hediye Pinar, Akin, Yasemin
Published in Clinical dysmorphology (01.01.2022)
Published in Clinical dysmorphology (01.01.2022)
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The PURPLE N study: objective and perceived nutritional status in children and adolescents with cerebral palsy
Fogarasi, Andras, Fazzi, Elisa, Smorenburg, Ana R. P., Mazurkiewicz-Beldzinska, Maria, Dinopoulos, Argirios, Pobiecka, Alena, Schröder-van den Nieuwendijk, Dea, Kraus, Josef, Tekgül, Hasan, Kraus, Josef, Dinopoulos, Argirios, Koutsaki, Maria, Fogarasi, Andras, Baranello, Giovanni, Bertoli, Simona, Caramaschi, Elisa, Cordelli, Duccio Maria, De Amicis, Ramona, Fazzi, Elisa, Forchielli, Maria Luisa, Guerra, Azzurra, Lividini, Althea, Marchiò, Maddalena, Rossi, Andrea, Nieuwendijk, Dea Schröder-van den, Fliciński, Jędrzej, Gurda, Barbara, Lemska, Anna, Matheisel, Agnieszka, Mazurkiewicz-Beldzinska, Maria, Niwinska, Zuzanna, Pawłowicz, Małgorzata, Sawicka, Agnieszka, Steinborn, Barbara, Szmuda, Marta, Winczewska-Wiktor, Anna, Zawadzka, Marta, Pobiecka, Alena, Arhan, Ebru, Aydin, Kursad, Bayram, Erhan, Carman, Kursat Bora, Edem, Pinar, Ertem, Deniz, Goktas, Özben Akıncı, Gungor, Serdal, Haliloglu, Goknur, Kansu, Aydan, Kömür, Mustafa, Mutlu, Akmer, Kırsaçlıoğlu, Ceyda Tuna, Okuyaz, Çetin, Özgör, Bilge, Ozturk, Yesim, Sager, Safiye Gunes, Sarıgeçili, Esra, Selimoglu, Mukadder Ayse, Serin, Hepsen Mine Öztürk, Teber, Serap Tıraş, Tekgül, Hasan, Thomas, Gülten, Turkdogan, Dilsad, Volkan, Burcu, Yarar, Coşkun, Yilmaz, Sanem Keskin
Published in Disability and rehabilitation (23.10.2022)
Published in Disability and rehabilitation (23.10.2022)
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Journal Article
A novel de novo TET3 loss-of-function variant in a Turkish boy presenting with neurodevelopmental delay and electrical status epilepticus during slow-wave sleep
Sager, Safiye Gunes, Turkyilmaz, Ayberk, Gunbey, Hediye Pınar, Karatoprak, Elif Yuksel, Aslan, Elif Sibel, Akın, Yasemin
Published in Brain & development (01.02.2023)
Published in Brain & development (01.02.2023)
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