Overlapping Interstitial Deletions of the Region 9q22.33 to 9q33.3 of Three Patients Allow Pinpointing Candidate Genes for Epilepsy and Cleft Lip and Palate

por Szalai, Renata, Till, Agnes, Szabo, Andras, Melegh, Bela, Hadzsiev, Kinga, Czako, Marta
Publicado 2023

Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature

por Buki, Gergely, Szalai, Renata, Pinter, Adrienn, Hadzsiev, Kinga, Melegh, Bela, Rauch, Tibor, Bene, Judit
Publicado 2023

Marked differences in frequencies of statin therapy relevant SLCO1B1 variants and haplotypes between Roma and Hungarian populations

por Nagy, Agnes, Sipeky, Csilla, Szalai, Renata, Melegh, Bela Imre, Matyas, Petra, Ganczer, Alma, Toth, Kalman, Melegh, Bela
Publicado 2015

Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype

por Hadzsiev, Kinga, Komlosi, Katalin, Czako, Marta, Duga, Balazs, Szalai, Renata, Szabo, Andras, Postyeni, Etelka, Szabo, Titanilla, Kosztolanyi, Gyorgy, Melegh, Bela
Publicado 2016

Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions

por Büki, Gergely, Zsigmond, Anna, Czakó, Márta, Szalai, Renáta, Antal, Gréta, Farkas, Viktor, Fekete, György, Nagy, Dóra, Széll, Márta, Tihanyi, Marianna, Melegh, Béla, Hadzsiev, Kinga, Bene, Judit
Publicado 2021