Search Results - "KUTBAY, Yaşar Bekir"
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Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome
Published in Clinical neurology and neurosurgery (01-01-2023)“…Joubert syndrome is a neurodevelopmental disorder with a distinctive hindbrain malformation called molar tooth sign, causing motor and cognitive impairments…”
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Does Follicle-Stimulating hormone receptor polymorphism status affect In vitro fertilization-intracytoplasmic sperm injection results and live birth rate? A retrospective study
Published in Journal of human reproductive sciences (01-01-2022)“…Background: Follicle-stimulating hormone (FSH) plays a key role in fertility and shows its effect through the FSH receptor (FSHR), which is localized in cells…”
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Distinctively Different Phenotypes of Two Cases with a Rare Karyotype of 45,X/47,XYY Mosaicism: Case Report and Literature Review
Published in The journal of pediatric research (01-12-2022)“…The 45,X/47,XYY mosaicism is an extremely rare genetic disorder with highly phenotypic manifestations such as ovotesticular disorders of sexual development,…”
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Assessment of Quality of Life of Chronic Myeloid Leukemia Patients by Using the EORTC QLQ-C30
Published in Turkish journal of haematology (01-06-2017)“…Keywords: Cytogenetic, Chronic myeloid leukemia, Molecular hematology, Life-quality, Dasatinib, Nilotinib Anahtar Sözcükler: Sitogenetik, Kronik miyeloid…”
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First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss
Published in Turkish Archives of Otorhinolaryngology (01-09-2019)“…Objective:The aim of this study is to investigate the efficiency of a first-line molecular genetic evaluation approach, in children with…”
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The clinical and molecular features of three Turkish patients with a rare genetic disorder: 2q37 deletion syndrome
Published in Turkish journal of pediatrics (01-07-2019)“…Gürsoy S, Kutbay YB, Özdemir TR, Hazan F. The clinical and molecular features of three Turkish patients with a rare genetic disorder: 2q37 deletion syndrome…”
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Can the Cell-free DNA Test Predict Placenta Accreta Spectrum or Placenta Previa Totalis?
Published in Zeitschrift fur Geburtshilfe und Neonatologie (01-04-2022)“…Following the discovery that fetal DNA originates from the trophoblastic cells of the placenta, the contribution of the cell-free DNA test in placenta-related…”
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QF-PCR in invasive prenatal diagnosis: a single-center experience in Turkey
Published in Turkish journal of medical sciences (01-01-2017)“…QF-PCR has been used for more than 20 years. It is based on investigation of polymorphic short tandem repeats (STRs) and is widely used for prenatal rapid…”
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Assessment of quality of life of chronic myeloid leukemia patients by using the EORTC QLQ-C30
Published in Turkish journal of haematology (2017)“…Depression is determined in 15%-25% of patients with cancer and it is accepted as a comorbid problem with poor prognosis. The quality of life of these patients…”
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The effect of progesterone supplementation in women with threatened miscarriage on fetal fraction in non-invasive prenatal testing: A matched case-control study
Published in Journal of gynecology obstetrics and human reproduction (01-10-2023)“…To evaluate the effect of progesterone use on fetal fraction (FF) in non-invasive prenatal testing (NIPT) due to the threat of first trimester miscarriage…”
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