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Current Issues in Molecular Biology|July 28, 2023
Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in the PTCH1 Gene in BCNSMargit Pál, Éva Vetró, Nikoletta Nagy, et al.
Orvosi Hetilap|June 9, 2015
[The tip of the iceberg: multiple cutaneous sebaceous tumor in colon cancer. Muir-Torre syndrome--case report]Gyula Herr, Mária Szenes, Györgyi Hohl, et al.
European Journal of Medical Research|June 21, 2017
Delineating the genetic heterogeneity of OCA in Hungarian patientsBeáta Fábos, Katalin Farkas, Lola Tóth, et al.
Frontiers in Immunology|July 19, 2018
Nuclear Factor κB Activation in a Type V Pityriasis Rubra Pilaris Patient Harboring Multiple CARD14 VariantsJudit Danis, Anikó Göblös, Brigitta Gál, et al.
Experimental Dermatology|March 16, 2012
MiR-21 is up-regulated in psoriasis and suppresses T cell apoptosisFlorian Meisgen, Ning Xu, Tianling Wei, et al.
Molecular Genetics & Genomic Medicine|June 18, 2014
CTSC and Papillon-Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database updateNikoletta Nagy, Péter Vályi, Zsanett Csoma, et al.
Neurobiology of Aging|February 23, 2017
Genetic analysis of the SOD1 and C9ORF72 genes in Hungarian patients with amyotrophic lateral sclerosisKornélia Tripolszki, Bernadett Csányi, Dóra Nagy, et al.
Parkinson'S Disease|June 1, 2018
The rs13388259 Intergenic Polymorphism in the Genomic Context of the BCYRN1 Gene Is Associated with Parkinson's Disease in the Hungarian PopulationSándor Márki, Anikó Göblös, Eszter Szlávicz, et al.
Life (Basel, Switzerland)|July 2, 2021
Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby PhenotypePálma Anker, Norbert Kiss, István Kocsis, et al.
International Journal of Molecular Sciences|April 28, 2023
Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian PatientsMargit Pál, Dóra Nagy, Alexandra Neller, et al.
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