ORCID "0000-0002-5601-8555" Araştırma Çıktıları | TR-Dizin | WoS | Scopus | PubMed için listeleme
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DOWN SENDROMLU OLGULARDA PRENATAL BULGULAR
Elmas, Muhsin; Çıkla, Cansu; Sözbilici, Enes Doğukan; Yarıktaş, İrem; Silay, Sefa; Kep, Oğuzhan; Bozteke, Sıdıka; Göğüş, Başak; Yıldırım, Ümit Can; Demirezen, Murat; Doğan, İsmet (Afyonkarahisar Sağlık Bilimleri Üniversitesi, 2021)AMAÇ: Yirmibirinci kromozomun 3 adet olması ile karakterizeolan Down Sendromu, Trizomi 21 olarak da bilinir. Down Sendromu 800 - 1200 kişide bir görülür. Sendrom ilk kez 1846’da tanımlanmıştır. Bu çalışmada amaç, kesin ... -
A family with mutation in DMD that inherited from gonadal mosaic mother
Göğüş, Başak; Elmas, Muhsin (SPRINGERNATURE, 2022)No Abstract Available -
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 ... -
The road from mutation to next generation phenotyping: contribution of deep learning technology (Face2Gene) to diagnosis neurofibromatosis type 1
Elmas, Muhsin; Göğüş, Başak (PRUSA MEDICAL PUBLISHING, 2022)Objectives: Genetics is one of the fastest growing medical fields in the last 10 years. While new analysis methods such as Next Generation Sequencing have been developed, the use of artificial intelligence like Face2Gene ...