Hasil Pencarian - Ayca Aykut

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  1. 1
    What is the Role of Mannose-Binding Lectin Gene Polymorphism in the Development of Acute Post-Streptococcal Glomerulonephritis?

    What is the Role of Mannose-Binding Lectin Gene Polymorphism in the Development of Acute Post-Streptococcal Glomerulonephritis? oleh Deniz Güven, Mustafa Bak, Erkin Serdaroğlu, Ferda Özkınay, Ayça Aykut

    Diterbitkan 2021-12-01
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  2. 2
    Clinical Variability in a Family with Noonan Syndrome with a Homozygous PTPN11 Gene Variant in Two Individuals

    Clinical Variability in a Family with Noonan Syndrome with a Homozygous PTPN11 Gene Variant in Two Individuals oleh Ruken Yıldırım, Edip Ünal, Şervan Özalkak, Akçahan Akalın, Ayça Aykut, Nevzat Yılmaz

    Diterbitkan 2024-03-01
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  3. 3
    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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  4. 4
    Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.

    Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss. oleh Tahir Atik, Huseyin Onay, Ayca Aykut, Guney Bademci, Tayfun Kirazli, Mustafa Tekin, Ferda Ozkinay

    Diterbitkan 2015-01-01
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  5. 5
    A Novel BLNK Gene Mutation in a Four-Year-Old Child Who Presented with Late Onset of Severe Infections and High IgM Levels and Diagnosed and Followed as X-Linked Agammaglobulinemia for Two Years

    A Novel BLNK Gene Mutation in a Four-Year-Old Child Who Presented with Late Onset of Severe Infections and High IgM Levels and Diagnosed and Followed as X-Linked Agammaglobulinemia... oleh Ezgi Topyildiz, Neslihan Edeer Karaca, Ayse Aygun, Ayca Aykut, Asude Durmaz, Guzide Aksu, Necil Kutukculer

    Diterbitkan 2022-01-01
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  6. 6
    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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  7. 7
    A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome

    A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome oleh Hale Tuhan, MD, Ayhan Abaci, MD, Ayca Aykut, MD, Ahmet Anik, MD, Hüseyin Onay, MD, Ece Bober, MD

    Diterbitkan 2016-01-01
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  8. 8
    An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission

    An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission oleh Gulcin Aytac, Burcu Guven, Ilyas Aydin, Ezgi Topyildiz, Ayca Aykut, Asude Durmaz, Neslihan Edeer Karaca, Guzide Aksu, Necil Kutukculer

    Diterbitkan 2023-01-01
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  9. 9
    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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  10. 10
    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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  11. 11
    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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  12. 12
    Early-Onset Isolated Bilateral Pheochromocytoma As a Major Clinical Manifestation of von-Hippel Lindau Syndrome Type 2C

    Early-Onset Isolated Bilateral Pheochromocytoma As a Major Clinical Manifestation of von-Hippel Lindau Syndrome Type 2C oleh Sezer Acar, Hale Tuhan, Korcan Demir, Ayça Aykut, Asude Durmaz, Ünal Utku Karaarslan, Gözde İnci, Oğuz Ateş, Ece Böber, Ayhan Abacı

    Diterbitkan 2018-03-01
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  13. 13
    Mild Aromatic L-Amino Acid Decarboxylase Deficiency Causing Hypoketotic Hypoglycemia in a 4-year-old Girl

    Mild Aromatic L-Amino Acid Decarboxylase Deficiency Causing Hypoketotic Hypoglycemia in a 4-year-old Girl oleh Merve Yoldaş Çelik, Ebru Canda, Havva Yazıcı, Fehime Erdem, Ayşe Yüksel Yanbolu, Ayça Aykut, Asude Durmaz, Ahmet Anık, Sema Kalkan Uçar, Mahmut Çoker

    Diterbitkan 2024-09-01
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  14. 14
    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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  15. 15
    SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey

    SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey oleh Melis Kose, Ebru Canda, Mehtap Kagnici, Ayça Aykut, Ogün Adebali, Asude Durmaz, Aylin Bircan, Gulden Diniz, Cenk Eraslan, Engin Kose, Aycan Ünalp, Ünsal Yılmaz, Berk Ozyilmaz, Taha Reşid Özdemir, Tahir Atik, Sema Kalkan Uçar, Robert McFarland, Robert W. Taylor, Garry K. Brown, Mahmut Çoker, Ferda Özkınay

    Diterbitkan 2020-12-01
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