PubMed İndeksli Yayınlar Koleksiyonu by Institution Author "Göğüş, Başak"

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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 ...
Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience

Elmas, Muhsin; Göğüş, Başak (Karger, 2020)

The diagnosis of rare genetic diseases is one of the most difficult areas in medicine. Whole-exome sequencing (WES) technology makes it easier to diagnose these diseases. In addition, next-generation phenotyping can help ...
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; ...