Galactosemia and phantom absence seizures

por Aydin-Özemir, Zeynep, Tektürk, Pınar, Uyguner, Zehra Oya, Baykan, Betül
Publicado en J Pediatr Neurosci (2014)

Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases

por Karaman, Birsen, Kayserili, Hülya, Ghanbari, Asadollah, Uyguner, Zehra Oya, Toksoy, Güven, Altunoglu, Umut, Basaran, Seher
Publicado en Mol Cytogenet (2018)

Mutations in CDK5RAP2 cause Seckel syndrome

por Yigit, Gökhan, Brown, Karen E, Kayserili, Hülya, Pohl, Esther, Caliebe, Almuth, Zahnleiter, Diana, Rosser, Elisabeth, Bögershausen, Nina, Uyguner, Zehra Oya, Altunoglu, Umut, Nürnberg, Gudrun, Nürnberg, Peter, Rauch, Anita, Li, Yun, Thiel, Christian Thomas, Wollnik, Bernd
Publicado en Mol Genet Genomic Med (2015)

A Biallelic ANTXR1 Variant Expands the Anthrax Toxin Receptor Associated Phenotype to Tooth Agenesis

por Dinckan, Nuriye, Du, Renqian, Akdemir, Zeynep Coban, Bayram, Yavuz, Jhiangiani, Shalini, Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Guven, Yeliz, Aktoren, Oya, Kayserili, Hulya, Boerwinkle, Eric, Gibbs, Richard A., Posey, Jennifer E., Lupski, James R., Uyguner, Zehra Oya, Letra, Ariadne
Publicado en Am J Med Genet A (2018)