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 em 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 no Prenat Diagn (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 em 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 em 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 no BMC Pediatr (2019)