Hasil Pencarian - Özgür Çoğulu

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  1. 1
    Evaluation of Six Patients with Chromosome 18 Structural Anomalies and Novel Findings

    Evaluation of Six Patients with Chromosome 18 Structural Anomalies and Novel Findings oleh Esra Işık, Bilcağ Akgün, Tahir Atik, Ferda Özkınay, Özgür Çoğulu

    Diterbitkan 2020-12-01
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  2. 2
    A case of acute lymphoblastic leukemia with additional chromosomes X and 5 associated with a Philadelphia chromosome in the bone marrow

    A case of acute lymphoblastic leukemia with additional chromosomes X and 5 associated with a Philadelphia chromosome in the bone marrow oleh Burak Durmaz, Asude Alpman Durmaz, Emin Karaca, Güray Saydam, Özgür Çoğulu, Ferda Özkınay

    Diterbitkan 2010-12-01
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  3. 3
    A case of acute lymphoblastic leukemia with additional chromosomes X and 5 associated with a Philadelphia chromosome in the bone marrow

    A case of acute lymphoblastic leukemia with additional chromosomes X and 5 associated with a Philadelphia chromosome in the bone marrow oleh Burak Durmaz, Asude Alpman Durmaz, Emin Karaca, Güray Saydam, Özgür Çoğulu, Ferda Özkınay

    Diterbitkan 2010-12-01
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  4. 4
    An X-Linked Hyper-IgM Patient Followed Successfully for 23 Years without Hematopoietic Stem Cell Transplantation

    An X-Linked Hyper-IgM Patient Followed Successfully for 23 Years without Hematopoietic Stem Cell Transplantation oleh Necil Kutukculer, Neslihan Edeer Karaca, Guzide Aksu, Ayca Aykut, Erhan Pariltay, Ozgur Cogulu

    Diterbitkan 2018-01-01
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  5. 5
    The relationship between ACTN3 R577X gene polymorphism and physical performance in amateur soccer players and sedentary individuals

    The relationship between ACTN3 R577X gene polymorphism and physical performance in amateur soccer players and sedentary individuals oleh Fatma E. Koku, Süleyman O. Karamızrak, Aynur S. Çiftçi, Hasan Taşlıdere, Burak Durmaz, Özgür Çoğulu

    Diterbitkan 2018-10-01
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  6. 6
    Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the CYP19A1 Gene

    Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the CYP19A1 Gene oleh Samim Özen, Tahir Atik, Özlem Korkmaz, Hüseyin Onay, Damla Gökşen, Ferda Özkınay, Özgür Çoğulu, Şükran Darcan

    Diterbitkan 2020-03-01
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  7. 7
    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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  8. 8
    A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia

    A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia oleh Esra Işık, Hüseyin Onay, Tahir Atik, Aslı Ece Solmaz, Samim Özen, Özgür Çoğulu, Şükran Darcan, Ferda Özkınay

    Diterbitkan 2020-03-01
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  9. 9
    Prenatal diagnosis of a case with tetrasomy 9p confirmed by cytogenetics, FISH, microarray analysis and review

    Prenatal diagnosis of a case with tetrasomy 9p confirmed by cytogenetics, FISH, microarray analysis and review oleh Gizem Kok Kilic, Erhan Pariltay, Emin Karaca, Burak Durmaz, Huseyin Ekici, Metehan Imamoglu, Firat Okmen, Haluk Akin, Ozgur Cogulu

    Diterbitkan 2022-01-01
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  10. 10
    Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application

    Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application oleh Tahir Atik, Enise Avci Durmusalioglu, Esra Isik, Melis Kose, Seda Kanmaz, Ayca Aykut, Asude Durmaz, Ferda Ozkinay, Ozgur Cogulu

    Diterbitkan 2024-09-01
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  11. 11
    Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA‐2; PLCG2): Striking clinical phenotypic overlap and difference

    Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA‐2; PLCG2): Striking clinical phenotypic overlap and difference oleh Necil Kutukculer, Ezgi Topyildiz, Afig Berdeli, Burcu Guven Bilgin, Ayca Aykut, Asude Durmaz, Ozgur Cogulu, Guzide Aksu, Neslihan Edeer Karaca

    Diterbitkan 2021-04-01
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  12. 12
    A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism

    A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogo... oleh Asude Durmaz, Ayça Aykut, Tahir Atik, Samim Özen, Durdugül Ayyıldız Emecen, Aysun Ata, Esra Işık, Damla Gökşen, Özgür Çoğulu, Ferda Özkınay

    Diterbitkan 2021-03-01
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  13. 13
    Clinical and Molecular Spectrum of Tuberous Sclerosis Complex Patients: Identification of Three Novel Mutations

    Clinical and Molecular Spectrum of Tuberous Sclerosis Complex Patients: Identification of Three Novel Mutations oleh Esra Işık, Hüseyin Onay, Tahir Atık, Aslı Ece Solmaz, Demet Terek, Sarenur Gökben, Hasan Tekgül, Ertürk Levent, Mehmet Kantar, Nilgün Kültürsay, Özgür Çoğulu, Ferda Özkınay

    Diterbitkan 2020-12-01
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  14. 14
    Quality of Life and Psychological Well-being in Children and Adolescents with Disorders of Sex Development

    Quality of Life and Psychological Well-being in Children and Adolescents with Disorders of Sex Development oleh Birsen Şentürk Pilan, Burcu Özbaran, Didem Çelik, Tuğçe Özcan, Samim Özen, Damla Gökşen, İbrahim Ulman, Ali Avanoğlu, Sibel Tiryaki, Hüseyin Onay, Özgür Çoğulu, Ferda Özkınay, Şükran Darcan

    Diterbitkan 2021-03-01
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  15. 15
    Diagnostic Role of MicroRNA Expression Profile in the Prenatal Amniotic Fluid Samples of Pregnant Women with Down Syndrome

    Diagnostic Role of MicroRNA Expression Profile in the Prenatal Amniotic Fluid Samples of Pregnant Women with Down Syndrome oleh Emin Karaca, Ayça Aykut, Biray Ertürk, Burak Durmaz, Ahmet Güler, Barış Büke, Ahmet Özgür Yeniel, Ahmet Mete Ergenoğlu, Ferda Özkınay, Mehmet Özeren, Mert Kazandı, Fuat Akercan, Sermet Sağol, Cumhur Gündüz, Özgür Çoğulu

    Diterbitkan 2018-03-01
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