Effects of Long-Term Pamidronate Treatment on Bone Density and Fracture Rate in 65 Osteogenesis Imperfecta Patients

por Yazan, Hakan, Güneş, Nilay, Akpınar, Evren, Yıldırım, Timur, Nuri Özyalvaç, Osman, Uludağ Akkaya, Dilek, Tuysuz, Beyhan
Publicado 2021

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

por Güneş, Nilay, Usluer, Esra, Yüksel Ülker, Aylin, Uludağ Alkaya, Dilek, Çifçi Sunamak, Evrim, Celep Eyüpoğlu, Figen, Oya Uyguner, Zehra, Tüysüz, Beyhan
Publicado 2023

Phenotypic and Molecular Spectrum of a Turkish Cohort with Hereditary Multiple Osteochondromas

por Güneş, Nilay, Uludağ Alkaya, Dilek, Toylu, Aslı, Özüdoğru, Püren, Çifçi Sunamak, Evrim, Şeker, Ali, Demir, Bilal, Kuruğoğlu, Sebuh, Mıhçı, Ercan, Tüysüz, Beyhan
Publicado 2023

Neurofibromatosis Type 1 in Children: A Single-Center Experience

por Gonca Kaçar, Ayşe, Kılınc Oktay, Burcu, Çınar Özel, Simge, Ocak, Süheyla, Güneş, Nilay, Uludağ Alkaya, Dilek, Tüysüz, Beyhan, Apak, Hilmi, Tiraje Celkan, Tülin
Publicado 2021

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

por Chatron, Nicolas, Becker, Felicitas, Morsy, Heba, Schmidts, Miriam, Hardies, Katia, Tuysuz, Beyhan, Roselli, Sandra, Najafi, Maryam, Alkaya, Dilek Uludag, Ashrafzadeh, Farah, Nabil, Amira, Omar, Tarek, Maroofian, Reza, Karimiani, Ehsan Ghayoor, Hussien, Haytham, Kok, Fernando, Ramos, Luiza, Gunes, Nilay, Bilguvar, Kaya, Labalme, Audrey, Alix, Eudeline, Sanlaville, Damien, de Bellescize, Julitta, Poulat, Anne-Lise, Moslemi, Ali-Reza, Lerche, Holger, May, Patrick, Lesca, Gaetan, Weckhuysen, Sarah, Tajsharghi, Homa
Publicado 2020