Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia
Ghosh, Shereen G, Breuss, Martin W, Schlachetzki, Zinayida, Chai, Guoliang, Ross, Danica, Stanley, Valentina, Sonmez, F Mujgan, Topaloglu, Haluk, Zaki, Maha S, Hosny, Heba, Gad, Shaimaa, Gleeson, Joseph G
Published in European journal of human genetics : EJHG (01.06.2021)
Published in European journal of human genetics : EJHG (01.06.2021)
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Journal Article
Insomnia, parasomnia, and predisposing factors in Turkish school children
Ozgun, Nezir, Sonmez, F Mujgan, Topbas, Murat, Can, Gamze, Goker, Zeynep
Published in Pediatrics international (01.10.2016)
Published in Pediatrics international (01.10.2016)
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Journal Article
Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly
Uctepe, Eyyup, Vona, Barbara, Esen, Fatma Nisa, Sonmez, F Mujgan, Smol, Thomas, Tümer, Sait, Mancılar, Hanifenur, Geylan Durgun, Dilan Ece, Boute, Odile, Moghbeli, Meysam, Ghayoor Karimiani, Ehsan, Hashemi, Narges, Bakhshoodeh, Behnoosh, Kim, Hyung Goo, Maroofian, Reza, Yesilyurt, Ahmet
Published in European journal of human genetics : EJHG (01.01.2024)
Published in European journal of human genetics : EJHG (01.01.2024)
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Journal Article
Exome sequencing can improve diagnosis and alter patient management
Dixon-Salazar, Tracy J, Silhavy, Jennifer L, Udpa, Nitin, Schroth, Jana, Bielas, Stephanie, Schaffer, Ashleigh E, Olvera, Jesus, Bafna, Vineet, Zaki, Maha S, Abdel-Salam, Ghada H, Mansour, Lobna A, Selim, Laila, Abdel-Hadi, Sawsan, Marzouki, Naima, Ben-Omran, Tawfeg, Al-Saana, Nouriya A, Sonmez, F Müjgan, Celep, Figen, Azam, Matloob, Hill, Kiley J, Collazo, Adrienne, Fenstermaker, Ali G, Novarino, Gaia, Akizu, Naiara, Garimella, Kiran V, Sougnez, Carrie, Russ, Carsten, Gabriel, Stacey B, Gleeson, Joseph G
Published in Science translational medicine (13.06.2012)
Published in Science translational medicine (13.06.2012)
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Journal Article
Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study
Cavusoglu, Dilek, Ozturk, Gulten, Turkdogan, Dilsad, Kurul, Semra Hiz, Yis, Uluc, Komur, Mustafa, Incecik, Faruk, Kara, Bulent, Sahin, Turkan, Unver, Olcay, Dilber, Cengiz, Mert, Gulen Gul, Gunay, Cagatay, Uzan, Gamze Sarikaya, Ersoy, Ozlem, Oktay, Yavuz, Mermer, Serdar, Tuncer, Gokcen Oz, Gungor, Olcay, Ozcora, Gul Demet Kaya, Gumus, Ugur, Sezer, Ozlem, Cetin, Gokhan Ozan, Demir, Fatma, Yilmaz, Arzu, Gurbuz, Gurkan, Topcu, Meral, Topaloglu, Haluk, Ceylan, Ahmet Cevdet, Ceylaner, Serdar, Gleeson, Joseph G., Icagasioglu, Dilara Fusun, Sonmez, F. Mujgan
Published in Cerebellum (London, England) (15.04.2024)
Published in Cerebellum (London, England) (15.04.2024)
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Journal Article
Cerebral creatine deficiency syndrome with a novel missense variant in SLC6A8 gene
Turan, Betül, Göktaş, Emine, Sönmez, F. Mujgan, Aydin, Halil Ibrahim, Aydogdu, Demet, Zamani, Ayse Gul, Yildirim, Mahmut Selman
Published in Neurology and clinical neuroscience (01.09.2023)
Published in Neurology and clinical neuroscience (01.09.2023)
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Journal Article
Vitamin D deficiency in healthy children and adolescents
Orun, Emel, Sezer, Seyma, Kanburoglu, M Kenan, Namuslu, Mehmet, Sonmez, F Mujgan
Published in Clinical and investigative medicine (01.01.2015)
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Published in Clinical and investigative medicine (01.01.2015)
Journal Article
Henoch-Schönlein purpura in north-eastern Turkey
Cakir, Murat, Orhan, Fazil, Mungan, Ilke, Sonmez, F. Mujgan, Aslan, Yakup, Kalyoncu, Mukaddes, Erduran, Erol, Gedik, Yusuf, Okten, Aysenur
Published in Annals of tropical paediatrics (01.03.2006)
Published in Annals of tropical paediatrics (01.03.2006)
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Journal Article
A novel mutation in guanidinoacetate methyltransferase (GAMT) deficiency in two patients associated with epilepsy, developmental delay, hyperactivity, autistic behavior
Aydin, Halil Ibrahim, Sonmez, F. Mujgan
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Journal Article
The effects of antiepileptic drugs on the relationships between leptin levels and bone turnover in prepubertal children with epilepsy
Aksoy, Ayse, Sönmez, F. Müjgan, Deger, Orhan, Hosver, Ilgın, Karagüzel, Gülay
Published in Journal of Pediatric Endocrinology and Metabolism (01.10.2011)
Published in Journal of Pediatric Endocrinology and Metabolism (01.10.2011)
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Journal Article
A CASE OF CHICKENPOX ASSOCIATED WITH ACUTE PERIPHERAL FACIAL NERVE PALSY
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Conference Proceeding
Impact of Childhood Epilepsy on the Family
Kerim Fazlıoglu, Cicek Hocaoglu, F. Mujgan Sonmez
Published in Psikiyatride güncel yaklaşimlar (01.08.2010)
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Published in Psikiyatride güncel yaklaşimlar (01.08.2010)
Journal Article
Pontocerebellar hypoplasia associated with nevoid hyperpigmentation and dysmorphic findings: a new subtype?
Sonmez, F M, Yayli, S, Kul, S, Celep, F, Ozkaya, A K, Ersoz, S, Erpolat, S
Published in Genetic counseling (01.01.2012)
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Published in Genetic counseling (01.01.2012)
Journal Article
Characteristics of pediatric multiple sclerosis: The Turkish pediatric multiple sclerosis database
Yılmaz, Ünsal, Anlar, Banu, Gücüyener, Kıvılcım, Yaramış, Ahmet, Cansu, Ali, Ünalp, Aycan, Aksoy, Ayşe, Bayram, Ayşe Kaçar, Kartal, Ayşe, Tosun, Ayşe, Serdaroğlu, Ayşe, Konuşkan, Bahadır, Sarıoğlu, Berrak, Yüzbaşı, Beste Kıpçak, Kılıç, Betül, Taşkın, Birce Dilge, Bulut, Cahide, Yılmaz, Cahide, Yarar, Coşkun, Okuyaz, Çetin, Gençsel, Çigdem, Yüksel, Deniz, Arslan, Elif Acar, Gürkaş, Esra, Faruk incecik, Serdaroğlu, Gül, Deda, Gülhis, Gürbüz, Gürkan, Gümüş, Hakan, Acer, Hamit, Tekgül, Hasan, Çaksen, Hüseyin, Per, Hüseyin, Erol, İlknur, Çarman, Kürşat Bora, Canpolat, Mehmet, Özkan, Mehpare, Direk, Meltem Çobanoğulları, Kutluk, Muhammet Gültekin, Arslan, Mutluay, Sönmez, F. Müjgan, Dündar, Nihal Olgaç, Koçak, Ozan, Aydın, Ömer Faruk, Toptaş, Özge, Duman, Özgür, Hergüner, Özlem, Bozkurt, Öznur, Arıcan, Pınar, Yılmaz, Sanem, Gökben, Sarenur, Işıkay, Sedat, Kumandaş, Sefer, Edizer, Selvinaz, Kurul, Semra Hız, Saygı, Semra, Teber, Serap, Güngör, Serdal, Altunbaşak, Şakir, Haspolat, Şenay, Sezer, Taner, Yılmaz, Tuba Sevim, Yiş, Uluç, Öztoprak, Ülkühan, Aydoğmuş, Ümmü, Topçu, Yasemin, Öztürk, Zeynep, Karalök, Zeynep Selen
Published in European journal of paediatric neurology (01.11.2017)
Published in European journal of paediatric neurology (01.11.2017)
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Journal Article
Çocukluk Çagi Epilepsisinin Aileye Etkisi/Impact of Childhood Epilepsy on the Family
Fazlioglu, Kerim, Hocaoglu, Çiçek, Sönmez, F Müjgan
Published in Psikiyatride güncel yaklaşimlar (01.04.2010)
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Published in Psikiyatride güncel yaklaşimlar (01.04.2010)
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