PW01-019 – MEFV gene mutations in 53 periodic fever patients

por Toplak, N, Debeljak, M, Avcin, T
Publicado 2013

Genotype -phenotype correlation of MEFV mutations in Eastern / Central European population

por Toplak, N, Debeljak, M, Avcin, T
Publicado 2015

The spectrum of clinical presentation in haploinsufficiency of A20; a case report of a novel mutation in TNFAIP3 gene

por Debeljak, M., Blazina, S., Brecelj, J., Avčin, T., Toplak, N.
Publicado 2023

PReS-FINAL-2242: Familial Mediterranean Fever - first experiences in Slovakia

por Dallos, T, Lukáčiková Gálová, L, Macejková, E, Toplak, N, Debeljak, M, Kovács, L
Publicado 2013

Prevalence of MEFV gene mutations in apparently healthy Slovenian and Macedonian population

por Debeljak, M, Abazi, N, Toplak, N, Stavrić, K, Kolnik, M, Kuzmanovska, D, Avčin, T
Publicado 2011

PReS-FINAL-2155: Genetic variability of methotrexate transporters in patients with juvenile idiopathic arthritis

por Zajc Avramovič, M, Toplak, N, Debeljak, M, Accetto, M, Lusa, L, Dolžan, V, Avcin, T
Publicado 2013

High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature

por Stavber, L, Hovnik, T, Kotnik, P, Lovrečić, L, Kovač, J, Tesovnik, T, Bertok, S, Dovč, K, Debeljak, M, Battelino, T, Avbelj Stefanija, M
Publicado 2019

PW01-020 – MEFV mutations carrier rate in Central Europe

por Debeljak, M, Toplak, N, Abazi, N, Kolnik, M, Szabados, B, Mulaosmanovic, V, Radović, J, Vojnović, J, Constantin, T, Kuzmanovska, D, Avčin, T
Publicado 2013

PReS-FINAL-2209: MEFV gene mutations in central and south-eastern European countries

por Perko, D, Debeljak, M, Toplak, N, Sediva, A, Dallos, T, Harjaček, M, Jelušič, M, Ristić, G, Dérfalvi, B, Mironska, K, Rusoniene, S, Kuzmanovska, D, Kurjane, N, Bataneant, M, Avčin, T
Publicado 2013