WoS İndeksli Yayınlar Koleksiyonu by Institution Author "Solak, Mustafa"
Now showing items 1-6 of 6
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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 ... -
Genotype to Phenotype: Identification of Mucopolysaccharidosis Type IIIB (Sanfilippo's B) Case Using Whole Exome Sequencing
Elmas, Muhsin; Göğüş, Başak; Kılıçarslan, Furkan; Bükülmez, Ayşegül; Solak, Mustafa (Georg Thieme Verlag Kg, 2021)Mucopolysaccharidosis type IIIB (Sanfilippo's B; OMIM no.: 252920) is a lysosomal storage disorder caused by defective degradation of heparan sulfate. The enzyme that has decreased function in this disease is alpha-N ... -
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 ... -
Relationship between SIRT1 gene expression level and disease in age-related cataract cases
Ağaoğlu, Nihat Buğra; Varol, Nuray; Yıldız, Saliha Handan; Karaosmanoğlu, Cem; Duman, Rahmi; Özdemir Erdoğan, Müjgan; Solak, Mustafa (2019)Background/aim: Age-related cataract is the most important visual impairment all over the world. Epigenetic modifications, especially overexpression of histone deacetylases, have become the focus of interest for cataract ... -
Understanding What You Have Found: A Family With a Mutation in the LAMA1 Gene With Literature Review
Elmas, Muhsin; Göğüş, Başak; Solak, Mustafa (Sage Publications Ltd, 2020)INTRODUCTION: Cerebellar dysplasia with cysts (CDC) is an imaging finding which is typically seen with in individuals with dystroglycanopathy. One of the diseases causing this condition is "Poretti-Boltshauser Syndrome; ...
