Browsing by Journal Title American Journal of Medical Genetics Part A
Showing results 1 to 2 of 2
| Issue Date | Title | Author(s) |
|---|---|---|
| 2023 | The clinical phenotype of Koolen-de Vries syndrome in Turkish patients and literature review | Karamık, Gökçen; Tüysüz, Beyhan; Işık, Esra; Yılmaz, Ayşegül ; Alanay, Yasemin; Çiftçi Sunamak, Evrim; Durmusalioglu, Enise Avcı; Ozkinay, Ferda; Cetin, Gokhan Ozan ; Ozturk, Nuray; Mihci, Ercan |
| 2023 | Novel nonsense mutation in UNC80 in a Turkish patient further validates the sociable skill and severe gastrointestinal problems as part of disease spectrum | Keleşoğlu, Fatih M.; Kaya, Mahsum; Sayılı, Ebrar Tuba |