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Acta Dermatovenerologica Croatica : ADC|July 11, 2018
The First Reported Case of Trichothiodystrophy in Hungary: A Young Male Patient with Mutations in the ERCC2 GeneKlara Veres, Nikoletta Nagy, Béla Háromszéki, et al.Archives of Dermatological Research|February 12, 2013
A novel seven-base deletion of the CTSC gene identified in a Hungarian family with Papillon-Lefèvre syndromeKatalin Farkas, Ekaterine Paschali, Ferenc Papp, et al.Journal of Applied Genetics|February 2, 2019
A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literatureMelinda Zombor, Tibor Kalmár, Nikoletta Nagy, et al.Acta Dermato-Venereologica|May 9, 2012
Successful treatment of multiple basaliomas with bleomycin-based electrochemotherapy: a case series of three patients with Gorlin-Goltz syndromeErika Kis, Eszter Baltás, Agnes Kinyó, et al.Molecular Cytogenetics|September 10, 2013
Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable casesEmese Horváth, Zsuzsanna Horváth, Dóra Isaszegi, et al.European Journal of Medical Genetics|February 7, 2016
Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactylyKornélia Tripolszki, Rachel Knox, Victoria Parker, et al.Journal of Child Neurology|September 24, 2013
Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) geneAnna Gajda, Emese Horváth, Tibor Hortobágyi, et al.Experimental Dermatology|April 10, 2010
The anti-apoptotic protein G1P3 is overexpressed in psoriasis and regulated by the non-coding RNA, PRINSKrisztina Szegedi, Eniko Sonkoly, Nikoletta Nagy, et al.BMC Pediatrics|January 13, 2019
Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: a case reportÉva Dávid, Dóra Török, Katalin Farkas, et al.International Journal of Molecular Sciences|February 26, 2025
Novel Pathogenic Variant of the <i>TRRAP</i> Gene Detected in a Hungarian Family with Autosomal Dominant Non-Syndromic Hearing LossNikoletta Nagy, Ágnes Szalenko-Tőkés, Margit Pál, et al.Pageof 7