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Toplam kayıt 16, listelenen: 11-16
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 ...
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 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 ...
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 ...