Search Results - Ceylaner, Serdar

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  1. 1
    A Novel Homozygous CYP19A1 Gene Mutation: Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant without Obvious Maternal Virilisation

    A Novel Homozygous CYP19A1 Gene Mutation: Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant without Obvious Maternal Virilisation by Dursun, Fatma, Ceylaner, Serdar

    Published 2019
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  2. 2
    Stimulus-induced myoclonus treated effectively with clonazepam in genetically confirmed Coffin–Lowry syndrome()

    Stimulus-induced myoclonus treated effectively with clonazepam in genetically confirmed Coffin–Lowry syndrome() by Arslan, Elif Acar, Ceylaner, Serdar, Turanlı, Güzide

    Published 2014
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  3. 3
    Importance of pedigree in patients with familial epilepsy and intellectual disability

    Importance of pedigree in patients with familial epilepsy and intellectual disability by Çaksen, Hüseyin, Aktar, Fesih, Yıldırım, Gökçen, Ceylaner, Serdar

    Published 2019
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  4. 4
    Merosin-negative congenital muscular dystrophy: Report of five cases

    Merosin-negative congenital muscular dystrophy: Report of five cases by Incecik, Faruk, Herguner, Ozlem M., Ceylaner, Serdar, Altunbasak, Sakir

    Published 2015
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  5. 5
    Crouzonodermoskeletal Syndrome with Hypoplasia of Corpus Callosum and Inferior Vermis

    Crouzonodermoskeletal Syndrome with Hypoplasia of Corpus Callosum and Inferior Vermis by Gürbüz, Fatih, Ceylaner, Serdar, Topaloğlu, Ali Kemal, Yüksel, Bilgin

    Published 2016
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  6. 6
    Mitochondrial membrane protein-associated neurodegeneration in a Turkish patient

    Mitochondrial membrane protein-associated neurodegeneration in a Turkish patient by Incecik, Faruk, Hergüner, Ozlem M., Besen, Seyda, Ceylaner, Serdar

    Published 2016
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  7. 7
    Lethal neonatal rigidity and multifocal seizure syndrome with a new mutation in BRAT1

    Lethal neonatal rigidity and multifocal seizure syndrome with a new mutation in BRAT1 by Celik, Yalcin, Okuyaz, Cetin, Arslankoylu, Ali Ertug, Ceylaner, Serdar

    Published 2017
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  8. 8
    Aceruloplasminemia Presenting with Asymmetric Chorea Due to a Novel Frameshift Mutation

    Aceruloplasminemia Presenting with Asymmetric Chorea Due to a Novel Frameshift Mutation by Aydemir, Sabiha T., Bulut, Onur, Ceylaner, Serdar, Akbostancı, Muhittin C.

    Published 2020
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  9. 9
    Hypomyelination and Congenital Cataract: Three Siblings Presentation

    Hypomyelination and Congenital Cataract: Three Siblings Presentation by Karalok, Zeynep Selen, Gurkasb, Esra, Aydinc, Kursad, Ceylaner, Serdar

    Published 2020
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  10. 10
    A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features

    A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features by Musabak, Ugur, Ceylaner, Serdar, Erdogan, Tuba, Ayva, Ebru Sebnem

    Published 2022
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  11. 11
    Histopathological analysis of the placental lesions in pregnancies complicated with IUGR and stillbirths in comparison with noncomplicated pregnancies

    Histopathological analysis of the placental lesions in pregnancies complicated with IUGR and stillbirths in comparison with noncomplicated pregnancies by Günyeli, İlker, Erdemoğlu, Evrim, Ceylaner, Serdar, Zergeroğlu, Sema, Mungan, Tamer

    Published 2011
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  12. 12
    Delayed Diagnosis of a 17-Hydroxylase/17,20-Lyase Deficient Patient Presenting as a 46,XY Female: A Low Normal Potassium Level Can Be an Alerting Diagnostic Sign

    Delayed Diagnosis of a 17-Hydroxylase/17,20-Lyase Deficient Patient Presenting as a 46,XY Female: A Low Normal Potassium Level Can Be an Alerting Diagnostic Sign by Çamtosun, Emine, Şıklar, Zeynep, Ceylaner, Serdar, Kocaay, Pınar, Berberoğlu, Merih

    Published 2017
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  13. 13
    A novel frameshift mutation of malonyl‐CoA decarboxylase deficiency: clinical signs and therapy response of a late‐diagnosed case

    A novel frameshift mutation of malonyl‐CoA decarboxylase deficiency: clinical signs and therapy response of a late‐diagnosed case by Ersoy, Melike, Akyol, Mehmet Bedir, Ceylaner, Serdar, Çakır Biçer, Nihan

    Published 2017
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  14. 14
    A Case of Shwachman–Diamond Syndrome who Presented with Hypotonia

    A Case of Shwachman–Diamond Syndrome who Presented with Hypotonia by Barış, Zeren, Özçay, Figen, Olcay, Lale, Ceylaner, Serdar, Sezer, Taner

    Published 2018
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  15. 15
    Importance of DNA Sequencing for Abnormal Hemoglobins Detected by HPLC Screening

    Importance of DNA Sequencing for Abnormal Hemoglobins Detected by HPLC Screening by Canatan, Duran, Çim, Abdullah, Delibaş, Serpil, Altunsoy, Emel, Ceylaner, Serdar

    Published 2020
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  16. 16
    A novel insight into the pathophysiology of autoimmune hepatitis: An immune activator mutation in the FLT3 receptor

    A novel insight into the pathophysiology of autoimmune hepatitis: An immune activator mutation in the FLT3 receptor by Yuksel, Muhammed, Armutlu, Ayse, Nazmi, Farinaz, Ceylaner, Serdar, Arikan, Cigdem

    Published 2021
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  17. 17
    A novel mutation in the desmoplakin gene in two female siblings with a rare form of dilated cardiomyopathy: Carvajal syndrome

    A novel mutation in the desmoplakin gene in two female siblings with a rare form of dilated cardiomyopathy: Carvajal syndrome by Ramoğlu, Mehmet G., Uçar, Tayfun, Ceylaner, Serdar, Atalay, Semra, Tutar, Ercan

    Published 2017
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  18. 18
    Association of vitamin D receptor gene polymorphisms with osteosarcoma risk and prognosis

    Association of vitamin D receptor gene polymorphisms with osteosarcoma risk and prognosis by Kurucu, Nilgun, Şahin, Gurses, Sarı, Neriman, Ceylaner, Serdar, İlhan, İnci Ergurhan

    Published 2018
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  19. 19
    Primary Adrenal Insufficiency Caused by a Novel Mutation in DAX1 Gene

    Primary Adrenal Insufficiency Caused by a Novel Mutation in DAX1 Gene by Evliyaoğlu, Olcay, Dokurel, İpek, Bucak, Feride, Özcabı, Bahar, Ercan, Oya, Ceylaner, Serdar

    Published 2013
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  20. 20
    Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis

    Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis by Gürbüz, Fatih, Özalp Yüreğir, Özge, Ceylaner, Serdar, Topaloğlu, Ali Kemal, Yüksel, Bilgin

    Published 2016
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