Hasil Pencarian - Filiz Hazan

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  1. 1
    Three Siblings with Idiopathic Hypogonadotropic Hypogonadism in a Nonconsanguineous Family: A Novel KISS1R/GPR54 Loss-of-Function Mutation

    Three Siblings with Idiopathic Hypogonadotropic Hypogonadism in a Nonconsanguineous Family: A Novel KISS1R/GPR54 Loss-of-Function Mutation oleh Özlem Nalbantoğlu, Gülçin Arslan, Özge Köprülü, Filiz Hazan, Semra Gürsoy, Behzat Özkan

    Diterbitkan 2019-12-01
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  2. 2
    Spectrum of Clinical Manifestations in Turkish Patients with Williams-Beuren Syndrome: A Monocentric Study

    Spectrum of Clinical Manifestations in Turkish Patients with Williams-Beuren Syndrome: A Monocentric Study oleh Semra Gürsoy, Filiz Hazan, Cüneyt Zihni, Sezer Acar, Murat Muhtar Yılmazer, Timur Meşe, Behzat Özkan

    Diterbitkan 2021-09-01
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  3. 3
    Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene

    Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene oleh Gulden Diniz, Hulya Tosun Yildirim, Sarenur Gokben, Gul Serdaroglu, Filiz Hazan, Kanay Yararbas, Ajlan Tukun

    Diterbitkan 2014-01-01
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  4. 4
    Detection of <italic>SHOX</italic> Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature

    Detection of <italic>SHOX</italic> Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature oleh Semra Gürsoy, Filiz Hazan, Ayça Aykut, Özlem Nalbantoğlu, Hüseyin Anıl Korkmaz, Korcan Demir, Behzat Özkan, Özgür Çoğulu

    Diterbitkan 2020-12-01
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  5. 5
    Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes

    Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes oleh Tarık Kırkgöz, Semra Gürsoy, Sezer Acar, Özlem Nalbantoğlu, Beyhan Özkaya, Hüseyin Anıl Korkmaz, Filiz Hazan, Behzat Özkan

    Diterbitkan 2023-11-01
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  6. 6
    A Null Mutation of TNFRSF11A Causes Dysosteosclerosis, Not Osteopetrosis

    A Null Mutation of TNFRSF11A Causes Dysosteosclerosis, Not Osteopetrosis oleh Tarık Kırkgöz, Behzat Özkan, Filiz Hazan, Sezer Acar, Özlem Nalbantoğlu, Beyhan Özkaya, Melike Ataseven Kulalı, Semra Gürsoy, Shiro Ikegawa, Long Guo

    Diterbitkan 2022-06-01
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  7. 7
    Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.

    Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants. oleh Stefania Zampieri, Silvia Cattarossi, Ana Maria Oller Ramirez, Camillo Rosano, Charles Marques Lourenco, Nadia Passon, Isabella Moroni, Graziella Uziel, Antonella Pettinari, Franco Stanzial, Raquel Dodelson de Kremer, Nydia Beatriz Azar, Filiz Hazan, Mirella Filocamo, Bruno Bembi, Andrea Dardis

    Diterbitkan 2012-01-01
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