An investigation of the etiology and follow‐up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant.

Autor: Yüksel Ülker, Aylin, Uludağ Alkaya, Dilek, Çağlayan, Ahmet Okay, Usluer, Esra, Aykut, Ayça, Aslanger, Ayça, Vural, Mehmet, Tüysüz, Beyhan

Publikováno v: American Journal of Medical Genetics. Part A; Jun2023, Vol. 191 Issue 6, p1530-1545, 16p

Congenital Heart Defects and Outcome in a Large Cohort of Down Syndrome: A Single-Center Experience from Turkey.

Autor: Uludağ Alkaya D; Department of Pediatric Genetics, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Turkey., Öztürk B; Department of Pediatric Genetics, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Turkey; Department of Pediatric Gastroenterology, Health Sciences University, Okmeydani Research and Training Hospital, İstanbul, Turkey., Yüksel Ülker A; Department of Pediatric Genetics, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Turkey., Bozlak S; Department of Pediatric Genetics, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Turkey., Öztürk E; Department of Pediatrics, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Turkey., Dedeoğlu R; Department of Pediatric Cardiology, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Turkey., Eroğlu AG; Department of Pediatric Cardiology, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Turkey., Öztunç F; Department of Pediatric Cardiology, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Turkey., Tüysüz B; Department of Pediatric Genetics, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Turkey.

Publikováno v: Turkish archives of pediatrics [Turk Arch Pediatr] 2023 Sep; Vol. 58 (5), pp. 473-479.

The Clinical and Molecular Spectrum of Trichorhinophalangeal Syndrome Types I and II in a Turkish Cohort Involving 22 Patients.

Autor: Güneş N; Department of Pediatric Genetics, İstanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Istanbul, Turkey., Usluer E; Department of Pediatric Genetics, İstanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Istanbul, Turkey., Yüksel Ülker A; Department of Pediatric Genetics, İstanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Istanbul, Turkey., Uludağ Alkaya D; Department of Genetics, İstanbul University-Cerrahpaşa School of Medicine, İstanbul, Turkey., Çifçi Sunamak E; Department of Pediatric Genetics, İstanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Istanbul, Turkey., Celep Eyüpoğlu F; Department of Medical Biology, Karadeniz Technical University, Trabzon, Turkey., Uyguner ZO; Department of Medical Genetics, İstanbul University, İstanbul Faculty of Medicine, İstanbul, Turkey., Tüysüz B; Department of Pediatric Genetics, İstanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Istanbul, Turkey.

Publikováno v: Turkish archives of pediatrics [Turk Arch Pediatr] 2023 Jan; Vol. 58 (1), pp. 98-104.