Hasil Pencarian - Semra Hiz

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  1. 1
    Electroclinical and Demographic Evaluation of Cases with Selflimited Epilepsy with Centrotemporal Spikes

    Electroclinical and Demographic Evaluation of Cases with Selflimited Epilepsy with Centrotemporal Spikes oleh Meryem BADEM, Gamze SARIKAYA UZAN, Semra HIZ KURUL

    Diterbitkan 2023-03-01
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  2. 2
    Double trouble: A case of DYT-TOR1A diagnosed in the postoperative period

    Double trouble: A case of DYT-TOR1A diagnosed in the postoperative period oleh Gamze Sarıkaya Uzan, Çağatay Günay, Semra Hız Kurul, Uluç Yiş

    Diterbitkan 2023-01-01
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  3. 3
    Aicardi syndrome in two Turkish children

    Aicardi syndrome in two Turkish children oleh Erhan Bayram, Yasemin Topcu, Gulcin Akinci, Semra Hiz, Handan Cakmakci

    Diterbitkan 2013-01-01
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  4. 4
    The combination of thermal dysregulation and agenesis of corpus callosum: Shapiro′s or/and reverse Shapiro′s syndrome

    The combination of thermal dysregulation and agenesis of corpus callosum: Shapiro′s or/and reverse Shapiro′s syndrome oleh Yasemin Topcu, Erhan Bayram, Pakize Karaoglu, Uluc Yis, Semra Hiz Kurul

    Diterbitkan 2013-01-01
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  5. 5
    Importance of acylcarnitine profile analysis for disorders of lipid metabolism in adolescent patients with recurrent rhabdomyolysis: Report of two cases

    Importance of acylcarnitine profile analysis for disorders of lipid metabolism in adolescent patients with recurrent rhabdomyolysis: Report of two cases oleh Yasemin Topçu, Erhan Bayram, Pakize Karaoglu, Uluç Yis, Semra Hiz Kurul

    Diterbitkan 2014-01-01
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  6. 6
    Evaluation of Autonomic Dysfunction in Pediatric Migraine Patients

    Evaluation of Autonomic Dysfunction in Pediatric Migraine Patients oleh Duygu Aykol, Nurhak Demir, Ayşe İpek Polat, İbrahim Öztura, Uluç Yiş, Ayşe Semra Hız

    Diterbitkan 2024-08-01
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  7. 7
    Epilepsy and Electroencephalographic Abnormalities in Children with Autistic Spectrum Disorder

    Epilepsy and Electroencephalographic Abnormalities in Children with Autistic Spectrum Disorder oleh İpek Polat, Ayşe Semra Hız, Uluç Yiş, Müge Ayanoğlu, Derya Okur, Erhan Bayram, Hüseyin Burak Baykara

    Diterbitkan 2022-08-01
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  8. 8
    Pediatric Pseudotumor Cerebri Syndrome Secondary to Superior Sagittal Sinus Thrombosis Associated with Severe Acute Respiratory Syndrome Coronavirus 2 Infection and Brief Literature Review

    Pediatric Pseudotumor Cerebri Syndrome Secondary to Superior Sagittal Sinus Thrombosis Associated with Severe Acute Respiratory Syndrome Coronavirus 2 Infection and Brief Literatur... oleh Mehmet Can Yeşilmen, Çağatay Günay, Gamze Sarıkaya Uzan, Özlem Özsoy, Semra Hız Kurul, Elif Yaşar, Uluç Yiş

    Diterbitkan 2023-12-01
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  9. 9
    Evaluation of the Pediatric Neurology Consultations Requested from the Pediatric Emergency Service: A Single-Center Experience

    Evaluation of the Pediatric Neurology Consultations Requested from the Pediatric Emergency Service: A Single-Center Experience oleh Çağatay Günay, Cem Paketçi, Gamze Sarıkaya Uzan, Didem Soydemir, Önder Karakaya, Duygu Elitez, Semra Hız Kurul, Uluç Yiş

    Diterbitkan 2022-04-01
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  10. 10
    Antiviral microRNA expression signatures are altered in subacute sclerosing panencephalitis

    Antiviral microRNA expression signatures are altered in subacute sclerosing panencephalitis oleh Kemal Ugur Tufekci, Jens Allmer, Kürşat Bora Çarman, Erhan Bayram, Yasemin Topçu, Semra Hız, Şermin Genç, Uluç Yiş

    Diterbitkan 2021-01-01
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  11. 11
    Evaluation of the Genetically Diagnosed Mitochondrial Disease Cases with Neuromuscular Involvement

    Evaluation of the Genetically Diagnosed Mitochondrial Disease Cases with Neuromuscular Involvement oleh Çağatay Günay, Cem Paketçi, Pınar Edem, Gamze Sarıkaya Uzan, Ayşe Semra Hız Kurul, Zümrüt Arslan Gülten, Pelin Teke Kısa, Nur Arslan, Uluç Yıs

    Diterbitkan 2022-04-01
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  12. 12
    Identification of PCDH19 gene mutations/deletions in patients with early onset epilepsy

    Identification of PCDH19 gene mutations/deletions in patients with early onset epilepsy oleh Semra Gursoy, Esra Ataman, Bahar Toklu Baysal, Berk Özyılmaz, Pınar Gençpınar, Ayşe Semra Hız, Uluç Yiş, Aycan Ünalp, Nihal Olgaç Dündar, Ayfer Ülgenalp, Derya Erçal

    Diterbitkan 2020-01-01
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  13. 13
    Cerebellar volumes in early-onset bipolar disorder: a pilot study of a stereological measurement technique

    Cerebellar volumes in early-onset bipolar disorder: a pilot study of a stereological measurement technique oleh Burcu Serim Demirgören, Aylin Özbek, Nüket Göçmen Karabekir, Bari Ay, Serkan Turan, Gökşin Nilüfer Yonguç, Selim Karabekir, Ayşe İpek Polat, Ayşe Semra Hız, Özlem Gencer Kıdak

    Diterbitkan 2019-07-01
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  14. 14
    Cerebellar volume in early-onset schizophrenia and its association with severity of symptoms

    Cerebellar volume in early-onset schizophrenia and its association with severity of symptoms oleh Aylin Özbek, Nüket Göçmen Mas, Serkan Turan, Bari Ay, Burcu Serim Demirgören, Gökşin Nilüfer Yonguç, Selim Karabekir, Ayşe İpek Polat, Ayşe Semra Hız, Özlem Gencer Kıdak

    Diterbitkan 2019-01-01
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  15. 15
    Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects

    Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects oleh Annabelle Arlt, Nicolai Kohlschmidt, Andreas Hentschel, Enrika Bartels, Claudia Groß, Ana Töpf, Pınar Edem, Nora Szabo, Albert Sickmann, Nancy Meyer, Ulrike Schara-Schmidt, Jarred Lau, Hanns Lochmüller, Rita Horvath, Yavuz Oktay, Andreas Roos, Semra Hiz

    Diterbitkan 2022-01-01
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  16. 16
    Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease

    Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease oleh Serdal Gungor, Yavuz Oktay, Semra Hiz, Álvaro Aranguren-Ibáñez, Ipek Kalafatcilar, Ahmet Yaramis, Ezgi Karaca, Uluc Yis, Ece Sonmezler, Burcu Ekinci, Mahmut Aslan, Elmasnur Yilmaz, Bilge Özgör, Sunitha Balaraju, Nora Szabo, Steven Laurie, Sergi Beltran, Daniel G. MacArthur, Denisa Hathazi, Ana Töpf, Andreas Roos, Hanns Lochmuller, Isabelle Vernos, Rita Horvath

    Diterbitkan 2021-01-01
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  17. 17
    Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

    Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications oleh Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C. LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E. Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M. Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V. Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T. Pagnamenta, Ajia Pennavaria, Liv S. Krogstad, Åse K. Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M. Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean-François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad Alajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmuller, Sahar I. Da’as, Khalid A. Fakhro, Alicia Gómez-Pascual, Juan A. Botía, Nicholas W. Wood, Rita Horvath, Andreas M. Ernst, James E. Rothman, Meriel McEntagart, Yanick J. Crow, Fowzan S. Alkuraya, Gaël Nicolas, SYNaPS Study Group, Thomas Arnesen, Henry Houlden

    Diterbitkan 2024-03-01
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