TUBB4B gene mutation in Leber phenotype of congenital amaurosis syndrome associated with early-onset deafness von Maasz, Anita, Hadzsiev, Kinga, Ripszam, Reka, Zsigmond, Anna, Maka, Erika, Knezy, Krisztina, Lesch, Balazs, Nemeth, Adrienn, Bene, Judit, Galik, Bence, Gyenesei, Attila, Melegh, Bela

Volltext

Whole Exome Sequencing in a Series of Patients with a Clinical Diagnosis of Tuberous Sclerosis Not Confirmed by Targeted TSC1/TSC2 Sequencing von Kovesdi, Erzsebet, Ripszam, Reka, Postyeni, Etelka, Horvath, Emese Beatrix, Kelemen, Anna, Fabos, Beata, Farkas, Viktor, Hadzsiev, Kinga, Sumegi, Katalin, Magyari, Lili, Moreno, Pilar Guatibonza, Bauer, Peter, Melegh, Bela

Volltext

Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma h... von Szalai, Renata, Melegh, Bela I., Till, Agnes, Ripszam, Reka, Csabi, Gyorgyi, Acharya, Anushree, Schrauwen, Isabelle, Leal, Suzanne M., Komoly, Samuel, Kosztolanyi, Gyorgy, Hadzsiev, Kinga

Volltext

Possible Phenotypic Consequences of Structural Differences in Idic(15) in a Small Cohort of Patients von Czakó, Márta, Till, Ágnes, Szabó, András, Ripszám, Réka, Melegh, Béla, Hadzsiev, Kinga

Volltext