Showing 1 - 10 results of 10 for search 'Berrak Bilginer Gürbüz', query time: 0.05s Refine Results
  1. 1
    A Fanconi-Bickel syndrome patient with a novel mutation and accompanying situs inversus totalis

    A Fanconi-Bickel syndrome patient with a novel mutation and accompanying situs inversus totalis by Tuğba Taştemel-Öztürk, Berrak Bilginer-Gürbüz, Özlem Tekşam, Serap Sivri

    Published 2017-12-01
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  2. 2
    A rare cause of hepatomegaly and dyslipidemia: lysosomal acid lipase deficiency

    A rare cause of hepatomegaly and dyslipidemia: lysosomal acid lipase deficiency by Berrak Bilginer Gürbüz, İlker Güney, Fatma Derya Bulut, Okan Dilek

    Published 2020-10-01
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  3. 3
    Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay

    Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay by Mina Hızal, Batuhan Yeke, Yılmaz Yıldız, Ali Öztürk, Berrak Bilginer Gürbüz, Turgay Coşkun

    Published 2020-06-01
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  4. 4
    Autism spectrum disorder in patients with inherited metabolic disorders-a large sample from a tertiary center

    Autism spectrum disorder in patients with inherited metabolic disorders-a large sample from a tertiary center by Tuba Çelen Yoldaş, Berrak Bilginer Gürbüz, Halil Tuna Akar, Elif Nursel Özmert, Turgay Coşkun

    Published 2021-10-01
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  5. 5
    GM2 gangliosidoses: evaluation of clinical, biochemical and genetic findings of patients with three novel mutations

    GM2 gangliosidoses: evaluation of clinical, biochemical and genetic findings of patients with three novel mutations by Berrak Bilginer Gürbüz, Habibe Koç Uçar, Fatma Derya Bulut, Esra Sarıgeçili, Bilge Sarıkepe, Özge Özalp Yüreğir

    Published 2021-09-01
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  6. 6
    Evaluation of Cardiac Findings in Mucopolysaccharidosis Type III Patients

    Evaluation of Cardiac Findings in Mucopolysaccharidosis Type III Patients by Berrak Bilginer Gürbüz, Ebru Aypar, Dursun Alehan, Ayşegül Tokatlı, Turgay Coşkun, Ali Dursun, H. Serap Sivri

    Published 2021-06-01
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  7. 7
    Evaluation of Neuroimaging and Electroencephalography Findings in Patients with Status Epilepticus [Status Epileptikus Tanisiyla Izlenen Hastalarin Norogoruntuleme ve EEG Bulgularinin Degerlendirilmesi]

    Evaluation of Neuroimaging and Electroencephalography Findings in Patients with Status Epilepticus [Status Epileptikus Tanisiyla Izlenen Hastalarin Norogoruntuleme ve EEG Bulgulari... by Berrak Bilginer Gurbuz, Fatih Gurbuz, Atilla Cayir, Irfan Oguz Sahin, Deniz Okdemir, Alev Guven, Aydan Degerliyurt, Gulsen Kose

    Published 2015-09-01
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  8. 8
    Cardiomyopathy in patients with type 1 tyrosinemia, and the effect of nitisinone treatment on cardiomyopathy

    Cardiomyopathy in patients with type 1 tyrosinemia, and the effect of nitisinone treatment on cardiomyopathy by Berrak Bilginer Gürbüz, Kısmet Çıkı, H. Hakan Aykan, Tevfik Karagöz, Serap Sivri, Ali Dursun, Ayşegül Tokatlı, Turgay Coşkun

    Published 2021-12-01
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  9. 9
    Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant

    Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant by Berrak Bilginer Gürbüz, Didem Yücel Yılmaz, Rıza Köksal Özgül, Can Koşukcu, Ali Dursun, Hatice Serap Sivri, Turgay Coşkun, Ayşegül Tokatlı

    Published 2021-08-01
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  10. 10
    Cognitive and behavioral impairment in mild hyperphenylalaninemia

    Cognitive and behavioral impairment in mild hyperphenylalaninemia by S Gülin Evinç, Ferhunde Öktem, Turgay Coskun, Ayşegül Tokatlı, Ali Dursun, Berrak Bilginer-Gürbüz, Yamaç Karaboncuk, Yılmaz Yıldız, Dilşad Foto-Özdemir, Emine Pektaş, H Serap Sivri

    Published 2018-12-01
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