Search Results - "Bertok, S"

High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature by Stavber, L, Hovnik, T, Kotnik, P, Lovrečić, L, Kovač, J, Tesovnik, T, Bertok, S, Dovč, K, Debeljak, M, Battelino, T, Avbelj Stefanija, M

“…Context Defining the underlying etiology of idiopathic short stature (ISS) improves the overall management of an individual. Objective To assess the frequency…”
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New Mutations Associated with Rasopathies in a Central European Population and Genotype–Phenotype Correlations by Čizmárová, M., Hlinková, K., Bertok, S., Kotnik, P., Duba, H.C., Bertalan, R., Poločková, K., Košťálová, Ľ., Pribilincová, Z., Hlavatá, A., Kovács, L., Ilenčíková, D.

“…Summary We performed the genetic analysis of Rasopathy syndromes in patients from Central European by direct sequencing followed by next generation sequencing…”
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Case report: Mutation in CHD 2 gene in a patient with neonatal onset epileptic encephalopathy by Troha Gergeli, A, Golli, T, Bertok, S, Neubauer, D, Rener Primc, Z, Osredkar, D

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P148 – 2593: How a single footage following Gestalt principles contributed to the diagnosis: A case study of a 5-year old girl with discrete dystonia and complex mutation of chromosome 18 by Bregant, T, Bertok, S, Kotnik, P

“…Objective We present a 5-year old girl with mild developmental delay, short stature, stigmata dysplastica and strabism, who developed typically up to seventh…”
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Pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant by Molk, N., Bitenc, M., Urlep, D., Tanšek, M. Žerjav, Bertok, S., Podkrajšek, K. Trebušak, Sustar, U., Kovac, J., Battelino, T., Debeljak, M., Groselj, U.

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Factors affecting length of stay after major joint replacement surgery in orthopaedics patients (retrospective analysis of 5 years): 1AP6-4 by Chaudhry, S. D., Bertok, S., Al Abdally, A.

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New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations: Rasopathies in Central Europe by Čizmárová, M., Hlinková, K., Bertok, S., Kotnik, P., Duba, H.C., Bertalan, R., Poločková, K., Košťálová, Ľ., Pribilincová, Z., Hlavatá, A., Kovács, L., Ilenčíková, D.

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Genetic Heterogeneity in Italian Families with IgA Nephropathy: Suggestive Linkage for Two Novel IgA Nephropathy Loci by Bisceglia, Luigi, Cerullo, Giuseppina, Forabosco, Paola, Torres, Diletta Domenica, Scolari, Francesco, Di Perna, Michele, Foramitti, Marina, Amoroso, Antonio, Bertok, Sara, Floege, Jürgen, Mertens, Peter Rene, Zerres, Klaus, Alexopoulos, Efstathios, Kirmizis, Dimitrios, Ermelinda, Mazzucco, Zelante, Leopoldo, Schena, Francesco Paolo

“…IgA nephropathy (IgAN) is the most common glomerulonephritis worldwide, but its etiologic mechanisms are still poorly understood. Different prevalences among…”
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A SALL4 zinc finger missense mutation predicted to result in increased dna binding affinity is associated with cranial midline defects and mild features of okihiro syndrome by MIERTUS, Jan, BOROZDIN, Wiktor, FRECER, Vladimir, TONINI, Giorgio, BERTOK, Sara, AMOROSO, Antonio, MIERTUS, Stanislav, KOHLHASE, Jiirgen

“…Truncating mutations of the gene SALL4 on chromosome 20q13.13-13.2 cause Okihiro and acro-renal-ocular syndromes. Pathogenic missense mutations within the…”
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Association of interferon-gamma +874A polymorphism with reduced long-term inflammatory response in haemodialysis patients by Biolo, Gianni, Amoroso, Antonio, Savoldi, Silvana, Bosutti, Alessandra, Martone, Massimiliano, Pirulli, Doroti, Bianco, Francesco, Ulivi, Sheila, Bertok, Sara, Artero, Mary, Barazzoni, Rocco, Zanetti, Michela, Grassi, Gabriele, Guarnieri, Gianfranco, Panzetta, Giovanni

“…We have studied the effects of interferon (IFN)-gamma allelic variations on expression levels of pro- and anti-inflammatory cytokines and on long-term…”
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The hemodiafiltration with infusion of acetate-free dialysis fluid can modify the inflammatory response in patients "high responders" to inflammatory stimuli? by Savoldi, S, Sereni, L, Bertok, S, Ianche, M, Bianco, F, Marega, A, Vianello, S, Zanchi, R, Klein, P, Cicinato, P, Pacor, G, Gennari, M, Bosutti, A, Biolo, G, Amoroso, A, Panzetta, G

“…This study aimed to verify the effects of paired hemodiafiltration on-line (PHF-AF) on inflammation in patients who were "high responders" to inflammatory…”
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