Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report

por Horváth, Emese, Farkas, Katalin, Herczegfalvi, Ágnes, Nagy, Nikoletta, Széll, Márta
Publicado 2014

Nasal bone length: prenasal thickness ratio: a strong 2D ultrasound marker for Down syndrome

por Szabó, Andrea, Szili, Károly, Szabó, János Tamás, Sikovanyecz, János, Isaszegi, Dóra, Horváth, Emese, Szabó, János
Publicado 2014

Cystic Dilation of the Aqueductus Sylvii in Case of Trisomy 17p11.2—pter with the Deletion of the Terminal Portion of the Chromosome 6

por Horváth, Emese, Sikovanyecz, János, Pál, Attila, Kaiser, László, Bálint, Bálint L., Szilárd, Póliska, Kozinszky, Zoltán, Szabó, János
Publicado 2010

Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases

por Horváth, Emese, Horváth, Zsuzsanna, Isaszegi, Dóra, Gergev, Gyurgyinka, Nagy, Nikoletta, Szabó, János, Sztriha, László, Széll, Márta, Endreffy, Emőke
Publicado 2013

Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: a case report

por Dávid, Éva, Török, Dóra, Farkas, Katalin, Nagy, Nikoletta, Horváth, Emese, Kiss, Zsuzsanna, Oroszlán, György, Balogh, Márta, Széll, Márta
Publicado 2019

Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in the PTCH1 Gene in BCNS

por Pál, Margit, Vetró, Éva, Nagy, Nikoletta, Nagy, Dóra, Horváth, Emese, Bokor, Barbara Anna, Varga, Anita, Seres, László, Oláh, Judit, Piffkó, József, Széll, Márta
Publicado 2023

Whole Exome Sequencing in a Series of Patients with a Clinical Diagnosis of Tuberous Sclerosis Not Confirmed by Targeted TSC1/TSC2 Sequencing

por 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
Publicado 2021