Yazar "Değirmenci, Banu" için listeleme
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A case of spastic paraplegia type 11 with a variation in the SPG11 gene
Elmas, Muhsin; Göğüş, Başak; Değirmenci, Banu; Solak, Mustafa; Gleeson, J.G. (Springer, 2020)Background: Spastic paraplegia 11 (SPG11) is defined as progressive spasticity and weakness of the lower limbs and also associated with mild intellectual disability with learning difficulties in childhood and/or progressive ... -
Evaluation of cytogenetic and y chromosome microdeletion analyzes in infertile cases
Değirmenci, Banu; Solak, Mustafa; Yıldız, Saliha Handan; Özdemir Erdoğan, Müjgan; Elmas, Muhsin; Fıstık, Tevhide (Elsevier Science Bv, 2019)Objective: The aim of our study is to determine the frequency of chromosome abnormalities and Y chromosome microdeletions which are the causes of primary infertility, in Afyonkarahisar. Materials and methods: Cytogenetic ... -
Neurodevelopment and Genetic Evaluation of Sotos Syndrome Cases with a Novel Mutation: a Single‑Center Experience
Elmas, Muhsin; Göğüş, Başak; Değirmenci, Banu; Gezdirici, Alper; Solak, Mustafa (Springer, 12.08.2021)Sotos syndrome is a non-progressive neurological disease with overgrowing, increased bone age, and developmental retardation. The aim of this study is to evaluate the prenatal, natal, and postnatal clinical fndings of ...
