Hasil Pencarian - Esra Isik
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Sibling Abuse: Definition, Causes and Differences between Sibling Relationship with Sibling Abuse oleh Esra Işık, Zeynep Çetin
Diterbitkan 2016-03-01Dapatkan teks lengkap
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Evaluation of Six Patients with Chromosome 18 Structural Anomalies and Novel Findings oleh Esra Işık, Bilcağ Akgün, Tahir Atik, Ferda Özkınay, Özgür Çoğulu
Diterbitkan 2020-12-01Dapatkan teks lengkap
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A Novel Molecular Indicator for Inhibitor Development in Haemophilia A oleh Esra Işık, Humay Mehdiyeva, Bilçağ Akgün, Timur Köse, Kaan Kavaklı, Ferda Özkınay, Tahir Atik
Diterbitkan 2021-06-01Dapatkan teks lengkap
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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 2020-03-01Dapatkan teks lengkap
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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 2024-09-01Dapatkan teks lengkap
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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 2021-03-01Dapatkan teks lengkap
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Intracranial Bleeding in a Female Hemophilia Patient: Molecular Analysis of the Factor 8 Gene and Determination of a Novel Mutation oleh Burcak Tatlı Güneş, Zühal Önder Siviş, Eda Ataseven, Barış Malbora, Meral Türker, Burcu Fatma Belen, Berna Atabay, Tahir Atik, Esra Işık, Ferda Özkınay
Diterbitkan 2018-08-01Dapatkan teks lengkap
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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 2020-12-01Dapatkan teks lengkap
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Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies oleh Sanem Eren Akarcan, Ezgi Ulusoy Severcan, Neslihan Edeer Karaca, Esra Isik, Guzide Aksu, Mélanie Migaud, Ferda Evin Gurkan, Elif Azarsiz, Anne Puel, Jean-Laurent Casanova, Necil Kutukculer
Diterbitkan 2017-01-01Dapatkan teks lengkap
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Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations oleh Tahir Atik, Esra Işık, Hüseyin Onay, Bilçağ Akgün, Moharram Shamsali, Kaan Kavaklo, Melike Evim, Gülen Tüysüz, Namık Yaşar Özbek, Fahri Şahin, Zafer Salcıoğlu, Canan Albayrak, Yeşim Oymak, Ekrem Ünal, Fatma Burcu Belen, Ebru Yılmaz Keskin, Can Balkan, Birol Baytan, Alphan Küpesiz, Vildan Culha, Tuba Nur Tahtakesen, Adalet Meral Güneş, Ferda Özkınay
Diterbitkan 2020-08-01Dapatkan teks lengkap
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