Search Results - "Gumus, Ugur"

Coexistence of Bloom Syndrome and Kostmann Disease and a Novel Mutation by Pekpak Sahinoglu, Esra, Oren, Ayse Ceyda, Sahinoglu, Bahtiyar, Gumus, Ugur, Akbayram, Sinan

“…Bloom syndrome (BS) is a rare autosomal recessive inherited disorder. Patients with BS have photosensitivity, telangiectatic facial erythema, and stunted…”
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Evaluation of Clinical and Genetic Features of 40 Patients with Fanconi Anemia: A Single-Center Experience by SAHINOGLU, Esra PEKPAK

“…Fanconi anemia (FA) is a rare inherited bone marrow failure syndrome that leads to congenital malformations, aplastic anemia, and cancer. FA is also classified…”
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An unusual case of 17-hydroxylase deficiency presenting with short stature by Çömlek, Fatma Özgüç, Gümüş, Uğur

“…17α-Hydroxylase and 17,20-lyase are enzymes encoded by the CYP17A1 gene and are necessary for the production of cortisol and sex steroids. Females with…”
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Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study by Cavusoglu, Dilek, Ozturk, Gulten, Turkdogan, Dilsad, Kurul, Semra Hiz, Yis, Uluc, Komur, Mustafa, Incecik, Faruk, Kara, Bulent, Sahin, Turkan, Unver, Olcay, Dilber, Cengiz, Mert, Gulen Gul, Gunay, Cagatay, Uzan, Gamze Sarikaya, Ersoy, Ozlem, Oktay, Yavuz, Mermer, Serdar, Tuncer, Gokcen Oz, Gungor, Olcay, Ozcora, Gul Demet Kaya, Gumus, Ugur, Sezer, Ozlem, Cetin, Gokhan Ozan, Demir, Fatma, Yilmaz, Arzu, Gurbuz, Gurkan, Topcu, Meral, Topaloglu, Haluk, Ceylan, Ahmet Cevdet, Ceylaner, Serdar, Gleeson, Joseph G., Icagasioglu, Dilara Fusun, Sonmez, F. Mujgan

“…Pontocerebellar hypoplasia (PCH) is a heterogeneous group of neurodegenerative disorders characterized by hypoplasia and degeneration of the cerebellum and…”
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Genetic and clinical variations of developmental epileptic encephalopathies by Kaya Özçora, Gül Demet, Söbü, Elif, Gümüş, Uğur

“…The concept of 'developmental and epileptic encephalopathy (DEE)' recognises that in infants presenting with severe early-onset epilepsy, neurodevelopmental…”
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Endosulfan’ın Kalıntı Analizlerine Uygun Yeni Yöntemlerin Geliştirilmesi by Gümüş, Fatma Uğur

“…Bu çalışmada, ülkemizde zirai mücadelede yaygın olarak kullanılan bir insektisid olan Endosulfanın nicel ve nitel analizi doğrultusunda 3 metod…”
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İstanbul Fatih ilçesinde Bazı Hava Kirliliği Parametrelerinin Tespiti ve Irdelenmesi by Gümüş, Fatma Uğur

“…Bu çalışmada yüksek nüfus yoğunluğuna, su kütleleri ile sınırlı bir alan içinde değişken bir jeomorfolojik yapıya sahip olan Fatih İlçesinde, 15 ayrı bölgede…”
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