Search Results - "Aymelek, Huri Sema"

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  1. 1

    Impact of Fluorescent In Situ Hybridization Aberrations and CLLU1 Expression on the Prognosis of Chronic Lymphocytic Leukemia: Presentation of 156 Patients from Turkey by Abur, Ümmet, Oğur, Gönül, Akar, Ömer Salih, Altundağ, Engin, Aymelek, Huri Sema, Özatlı, Düzgün, Turgut, Mehmet

    Published in Turkish journal of haematology (01-03-2018)
    “…This study evaluates the impact of CLLU1 expression and fluorescent in situ hybridization (FISH) analysis of a group of Turkish chronic lymphocytic leukemia…”
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    Journal Article
  2. 2

    Evaluation of pubertal and pathological gynaecomastia in children: A single‐center experience by Celebi Bitkin, Eda, Aymelek, Huri Sema, Karaman, Serap

    Published in Andrologia (01-04-2021)
    “…Gynaecomastia in adolescents is a benign glandular proliferation of the male breast. Secondary causes of gynaecomastia in adolescents are relatively rare and…”
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    Journal Article
  3. 3

    Identification of three novel pathogenic ITGA2B and one novel pathogenic ITGB3 mutations in patients with hereditary Glanzmann's thrombasthenia living in Eastern Turkey by Karaman, Kamuran, Yürektürk, Eyüp, Geylan, Hadi, Yaşar, Akkız Şahin, Karaman, Serap, Aymelek, Huri Sema, Çetin, Mecnun, Oner, Ahmet Fayik

    Published in Platelets (Edinburgh) (17-02-2021)
    “…Glanzmann's thrombasthenia (GT) is an autosomal recessive disorder in which the underlying problem is the lack or dysfunction of the GpIIb/IIIa receptor on the…”
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    Journal Article
  4. 4

    Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPPI gene by Bitkin, Eda Celebi, Aymelek, Huri Sema

    Published in Turkish journal of pediatrics (01-05-2022)
    “…Case. In our study, we present a novel mutation in the ENPP1 gene detected in 4 siblings in a single family…”
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    Journal Article
  5. 5

    Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene by Bitkin, Eda Çelebi, Aymelek, Huri Sema

    Published in Turkish journal of pediatrics (01-05-2022)
    “…Background. Hypophosphatemic rickets (HR) is a rare disease caused by several genetic mutations in factors that cause an increase in fibroblast growth factor…”
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    Journal Article
  6. 6

    Amniocentesis Results of Van and Surrounding Provinces Between 2018 And 2020: A Tertiary Center Experience by Küçükbaş, Gökçe Naz, Dirik, Deniz, Karaaslan, Onur, Karaman, Erbil, Kolusari, Ali, Aymelek, Huri Sema, Gül, Abdulaziz, Şahin, Hanim Güler

    Published in Eastern journal of medicine (01-10-2021)
    “…Amniocentesis is one of the safest procedures of prenatal diagnosis. This study aimed to show amniocentesis indications, rate of successful amniocyte culture,…”
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    Journal Article
  7. 7

    Genetic burden and outcome of cystic hygromas detected antenatally: Results of 93 pregnancies from a single center in the Northern Region of Turkey by Aymelek, Huri, Oğur, Gönül, Tosun, Miǧraci, Abur, mmet, Altundaǧ, Engin, Çelik, Handan, Kurtoǧlu, Emel, Malatyalıoǧlu, Erdal, Akar, Ömer, Alper, Tayfun

    Published in Journal of medical ultrasound (01-10-2019)
    “…Objective: Genetic burden, fetal malformations, and fetal outcomes of 93 fetuses with cystic hygroma (CH) are reported from a single center in Turkey. Patients…”
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    Journal Article