ORCID "0000-0002-5626-2160" WoS İndeksli Yayınlar Koleksiyonu için listeleme
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A family with mutation in DMD that inherited from gonadal mosaic mother
Göğüş, Başak; Elmas, Muhsin (SPRINGERNATURE, 2022)No Abstract Available -
A female case of 5,10-methenyltetrahydrofolate synthetase deficiency with novel neuro-imaging abnormalities
Çavuşoğlu, Dilek; Köse, Melis; Er, Esra; Elmas, Muhsin; Gençpınar, Pınar; Olgaç Dündar, Nihal; Aydın, Kürşad (Elsevier, 06.06.2022)Background Folate metabolism disorders can affect various organ systems, including the nervous system. 5,10-methenyltetrahydrofolate synthetase deficiency is a rare cerebral folate deficiency in which MTHFS activity is ... -
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 ...