Search Results - "Aymelek, Huri Sema"
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Impact of Fluorescent In Situ Hybridization Aberrations and CLLU1 Expression on the Prognosis of Chronic Lymphocytic Leukemia: Presentation of 156 Patients from Turkey
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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Evaluation of pubertal and pathological gynaecomastia in children: A single‐center experience
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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Identification of three novel pathogenic ITGA2B and one novel pathogenic ITGB3 mutations in patients with hereditary Glanzmann's thrombasthenia living in Eastern Turkey
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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Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPPI gene
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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Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene
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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Amniocentesis Results of Van and Surrounding Provinces Between 2018 And 2020: A Tertiary Center Experience
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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Genetic burden and outcome of cystic hygromas detected antenatally: Results of 93 pregnancies from a single center in the Northern Region of Turkey
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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