Yayıncı "Springer" Tıp Fakültesi için listeleme
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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 ... -
Deep learning model developed by multiparametric MRI in differential diagnosis of parotid gland tumors
(Springer, 2022)Purpose: To create a new artificial intelligence approach based on deep learning (DL) from multiparametric MRI in the differential diagnosis of common parotid tumors. Methods: Parotid tumors were classified using 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 ...