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Clinical, radiological and computational studies on two novel GNPTG variants causing mucolipidosis III gamma phenotypes with varying severity
(Springer, 2021)
Mucolipidosis III gamma (ML III gamma) is a slowly progressive disorder that affects multiple parts of the body such as the skeleton, joints, and connective tissue structures. It is caused by pathogenic variants in the ...
An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variants
(Springer, 2021)
Marfan syndrome (MFS) is an autosomal dominant genetic condition that mainly affects connective tissue in many parts of the body. Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems. The diagnosis ...
Nodular fasciitis of the breast: Case reports of a male and a female patient
(Gazi Üniversitesi, 2020)
Nodular fasciitis (NF) is a benign lesion that originates from the excessive proliferation of fibroblasts. NF is rare in the breast. The majority of affected patients are female. In this presentation, NF imaging findings ...
The circulating alarin level was elevated in infertile women with poor ovarian reserve
(Taylor & Francis, 2021)
Objective: We aimed to reveal the association of serum alarin level with POR status of the infertile women in the present study.
Methods: The eligibility criteria for this prospective cross-sectional study included a ...
The role of endobronchial ultrasound-guided transbronchial needle aspiration in the differential diagnosis of isolated mediastinal and/or hilar lymphadenopathy
(Wiley, 2021)
Introduction: Isolated mediastinal and/or hilar lymphadenopathy (IMHL) has become an increasingly common finding as a result of the increased use of thoracic imaging modalities. Endobronchial ultrasound-guided transbronchial ...
Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene
(Taylor & Francis, 2021)
Purpose: The current study aims to raise awareness of Boucher - Neuhauser syndrome (BNHS) that occurs as a rare phenotype due to biallelic pathogenic variants in the PNPLA6 gene.
Methods: Detailed family histories and ...
Evaluation of the efferent auditory system in COVID-19 adult patients
(Taylor & Francis, 2022)
Background: The short- and long-term effects of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection on the medial olivocochlear reflex and outer hair cells in the cochlea remain largely unclear. Aims: ...
Clinical and Molecular Findings in a Turkish Family Who Had a (c.869-1G>A) Splicing Variant in PSEN1 Gene with A Rare Condition: The Variant Alzheimer's Disease with Spastic Paraparesis
(Bentham Science, 2022)
Background: Early-onset Alzheimer's disease (EOAD) is commonly diagnosed with an onset age of earlier than 65 years and accounts for 5–10% of all Alzheimer's disease (AD) cases. To date, although only 10-15% of familial ...
The Relationship of Methylated Arginines with Urine Cadmium Levels
(Deniz, Serdar, 2022)
Background: In this study, we aimed to show that methylated arginines are the predictors of non-clinical atherosclerotic cardiovascular complications in metal workers exposed to Cd.
Methods: The 80 Cd-exposed metal workers ...
The Impact of COVID-19 on Conjunctival Flora
(Taylor & Francis, 2021)
Purpose: This study aims to evaluate the effect of coronavirus disease 2019 (COVID-19) on conjunctival flora in patients hospitalized with COVID-19. Methods: This prospective, controlled study was conducted between June ...