High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature
Stavber, L, Hovnik, T, Kotnik, P, Lovrečić, L, Kovač, J, Tesovnik, T, Bertok, S, Dovč, K, Debeljak, M, Battelino, T, Avbelj Stefanija, M
Published in European journal of endocrinology (01.03.2020)
Published in European journal of endocrinology (01.03.2020)
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Journal Article
The spectrum of clinical presentation in haploinsufficiency of A20; a case report of a novel mutation in TNFAIP3 gene
Debeljak, M, Blazina, S, Brecelj, J, Avčin, T, Toplak, N
Published in Frontiers in pediatrics (14.06.2023)
Published in Frontiers in pediatrics (14.06.2023)
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THU0019 INTRON REGIONS OF PIK3AP1 (BCAP) AND SPON2 (SPONDIN-2) GENES ARE DIFFERENTIALLY METHYLATED IN PATIENTS WITH PERIODIC FEVER, APHTHOUS STOMATITIS, PHARYNGITIS AND ADENITIS (PFAPA) SYNDROME
Lovšin, E., Kovac, J., Tesovnik, T., Toplak, N., Perko, D., Rozmarič, T., Debeljak, M., Avcin, T.
Published in Annals of the rheumatic diseases (01.06.2020)
Published in Annals of the rheumatic diseases (01.06.2020)
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Journal Article
AB1178 Spectrum of Rheumatic Diseases Associated with Primary Immunodeficiencies
Blazina, S., Markelj, G., Toplak, N., Debeljak, M., Avčin, T.
Published in Annals of the rheumatic diseases (01.06.2015)
Published in Annals of the rheumatic diseases (01.06.2015)
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Journal Article
Cluster of patients with Familial Mediterranean fever and heterozygous carriers of mutations in MEFV gene in the Czech Republic
Šedivá, A., Horváth, R., Maňásek, V., Gregorová, A., Plevová, P., Horáčková, M., Tesařová, M., Toplak, N., Debeljak, M.
Published in Clinical genetics (01.12.2014)
Published in Clinical genetics (01.12.2014)
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Journal Article
AB0025 Prevalence of MEFV gene mutations in apparently healthy populations in balkan and central european countries
Debeljak, M., Toplak, N., Abazi, N., Kolnik, M., Szabados, B., Mulaosmanovic, V., Constantin, T., Kuzmanovska, D., Avcin, T.
Published in Annals of the rheumatic diseases (01.06.2013)
Published in Annals of the rheumatic diseases (01.06.2013)
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Journal Article
Prevalence of MEFV gene mutations in apparently healthy Slovenian and Macedonian population
Debeljak, M, Abazi, N, Toplak, N, Stavrić, K, Kolnik, M, Kuzmanovska, D, Avčin, T
Published in Pediatric Rheumatology (14.09.2011)
Published in Pediatric Rheumatology (14.09.2011)
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Journal Article
AB1325 SINGLE CELL MULTIOMIC PROFILING OF DISRUPTED REGULATORY NETWORKS IN COVID19 ASSOCIATED MULTISYSTEM INFLAMMATORY SYNDROME IN CHILDREN
B Jenko Bizjan, Šket, R, Tesovnik, T, Kovac, J, Debeljak, M, M Zajc Avramovič, Emersic, N, Avčin, T
Published in Annals of the rheumatic diseases (01.06.2023)
Published in Annals of the rheumatic diseases (01.06.2023)
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Journal Article
Pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant
Molk, N., Bitenc, M., Urlep, D., Tanšek, M. Žerjav, Bertok, S., Podkrajšek, K. Trebušak, Sustar, U., Kovac, J., Battelino, T., Debeljak, M., Groselj, U.
Published in Atherosclerosis (01.08.2023)
Published in Atherosclerosis (01.08.2023)
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Journal Article
Allelic differences in bovine kappa -- CN gene which may regulate gene expression
Debeljak, M, Susnik, S, Marinsek-logar, R, Medrano, J F, Dovc, P
Published in Pflügers Archiv (01.07.2000)
Published in Pflügers Archiv (01.07.2000)
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Journal Article
Calculations of exergy for organisms
Jørgensen, Sven Erik, Ladegaard, Niels, Debeljak, Marko, Marques, Joao Carlos
Published in Ecological modelling (10.07.2005)
Published in Ecological modelling (10.07.2005)
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Journal Article
Allelic differences in bovine kappa - CN gene which may regulate gene expression
Debeljak, M, Sušnik, S, Marinšek-Logar, R, Medrano, J F, Dovč, P
Published in Pflügers Archiv (01.01.2000)
Published in Pflügers Archiv (01.01.2000)
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Journal Article
AB0938 Cluster of Patients with Familial Mediterranean Fever and Heterozygous Carriers of Mutations in MEFV Gene in the Czech Republic - Update
Horvath, R., Sediva, A., Manasek, V., Plevelova, P., Horackova, M., Tesarova, M., Debeljak, M.
Published in Annals of the rheumatic diseases (01.06.2014)
Published in Annals of the rheumatic diseases (01.06.2014)
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