The spectrum of clinical presentation in haploinsufficiency of A20; a case report of a novel mutation in TNFAIP3 gene von Debeljak, M, Blazina, S, Brecelj, J, Avčin, T, Toplak, N

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215 Characterization of gastroesophageal reflux with combined multichannel intraluminal impedance–pH (MII-pH) in a group of children with CF von Brecelj, J, Orel, R

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Characteristics of Gastroesophageal Reflux and Potential Risk of Gastric Content Aspiration in Children With Cystic Fibrosis von Blondeau, K, Pauwels, A, Dupont, LJ, Mertens, V, Proesmans, M, Orel, R, Brecelj, J, López‐Alonso, M, Moya, MJ, Malfroot, A, De Wachter, E, Vandenplas, Y, Hauser, B, Sifrim, D

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The natural course of FIC1 deficiency and BSEP deficiency: Initial results from the NAPPED-consortium (Natural course and Prognosis of PFIC and Effect of biliary Diversion) von van Wessel, D., Thompson, R., Grammatikopoulos, T., Kadaristiana, A., Jankowska, I., Lipiński, P., Czubkowski, P., Gonzales, E., Jacquemin, E., Spraul, A., Sokal, E., Shagrani, M.A., Broering, D.C., Algoufi, T., Mazhar, N., Nicastro, E., Kelly, D., Nebbia, G., Arnell, H., Fischler, B., Sankaranarayanan, S., Hulscher, J., Serranti, D., Arikan, C., Polat, E., Debray, D., Lacaille, F., Goncalves, C., Hierro, L., Bartolo, G.M., Mozer-Glassberg, Y., Azaz, A., Brecelj, J., Dezsőfi, A., Calvo, P.L., Pizzol, A., Schmitt, D., Sturm, E., van der Woerd, W., Hansen, B., Verkade, H.

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Electroretinography and optical coherence tomography reveal abnormal post-photoreceptoral activity and altered retinal lamination in patients with enhanced S-cone syndrome von Sustar, M., Perovšek, D., Cima, I., Stirn-Kranjc, B., Hawlina, M., Brecelj, J.

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Pattern ERG and VEP maturation in schoolchildren von Brecelj, J, Štrucl, M, Zidar, I, Tekavčič-Pompe, M

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WS12.04 Occurrence of vitamin A hypervitaminosis in children with cystic fibrosis after elexacaftor/tezacaftor/ivacaftor therapy initiation von Novak, A. Praprotnik, Brecelj, J., Orel, A., Krivec, U., Rodman, J.

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P345 BMI (Z-scores) in children with cystic fibrosis improved despite comparable energy and nutritional intake following the introduction of elexacaftor/tezacaftor/ivacaftor therap... von Orel, A., Praprotnik Novak, A., Brecelj, J., Krivec, U., Rodman Berlot, J.

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The co effect of prophylaxis and radiosynovectomy on bleeding episodes in haemophilic synovitis von BRECELJ, J., BOLE, V., BENEDIK-DOLNIČAR, M., GRMEK, M.

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Optic neuritis in children--clinical and electrophysiological follow-up von Tekavcic-Pompe, M, Stirn-Kranjc, B, Brecelj, J

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From immature to mature pattern ERG and VEP von Brecelj, Jelka

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CANNULATED SCREWS IN THE TREATMENT OF UNICAMERAL BONE CYSTS IN HUMERUS AND FEMUR - ANALYSIS OF THE IMPACT OF DIFFERENT VARIABLES ON THE HEALING PROCESS von Suhodolcan, Lovro, Bole, Velimir, Brecelj, Janez

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P172 The acute injury of the surgical sutures on the human articular cartilage – preliminary results von Drobnič, M, Maruåin, M, Marš, T, Alibegoviü, A, Šuput, D, Grubič, Z, Brecelj, J

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Serum bile acids are associated with native liver survival in patients with Alagille syndrome: results from the GALA study group von Murillo Perez, Carla Fiorella, Vandriel, Shannon M., Wang, Jian-She, Liting, Li, She, Huiyu, Jankowska, Irena, Czubkowski, Piotr, Gliwicz, Dorota, Gonzalès, Emmanuel, Jacquemin, Emmanuel, Bouligand, Jérôme, D’Antiga, Lorenzo, Nicastro, Emanuele, Fischler, Björn, Arnell, Henrik, Siew, Susan, Stormon, Michael, Loomes, Kathleen M., Piccoli, David A., Rand, Elizabeth B., Squires, James E., Karpen, Saul J., Romero, Rene, Kasahara, Mureo, Önal, Zerrin, Sokal, Etienne, Demaret, Tanguy, Wiecek, Sabina, Lacaille, Florence, Debray, Dominique, Hardikar, Winita, Shankar, Sahana, Valentino, Pamela, Sundaram, Shikha, Chaidez, Alexander, Ebel, Noelle, Feinstein, Jeffrey, Mozar-Glazberg, Yael, Lin, Henry, Rock, Nathalie, Verkade, Henkjan J., Jensen, M.K., Jaramillo, Catalina, Kim, Kyungmo, Oh, Seak Hee, Brecelj, Jernej, Alam, Seema, Indolfi, Giuseppe, Blondet, Niviann, Fawaz, Rima, Nastasio, Silvia, Calvo, Pier Luigi, Nebbia, Gabriella, Arıkan, Cigdem, Larson-Nath, Catherine, Zizzo, Andréanne N., Sandahl, Thomas Damgaard, Tzivinikos, Christos, El-Koofy, Nehal, Elmonem, Mohamed, Desai, Dev, Karnsakul, Wikrom, Karthikeyan, Palaniswamy, Bulut, Pinar, Kerkar, Nanda, Wolters, Victorien, Roberts, Amin J, Evans, Helen, Sanchez, Maria Camila, Cavalieri, Maria Lorena, Kelly, Deirdre, Lee, Way Seah, Hajinicolaou, Christina, Lertudomphonwanit, Chatmanee, Fischer, Ryan, Bernabeu, Jesús Quintero, Quiros-Tejeira, Ruben E., Melere, Melina, Carvalho, Elisa, Eshun, John, Zellos, Aglaia, Dezsőfi, Antal, Pinto, Raquel Borges, Schwarz, Kathleen, Rogalidou, Maria, Garcia, Jennifer, Tamara, María Legarda, Beretta, Marisa, Mujawar, Quais, Santos-Silva, Ermelinda, Busoms, Cristina Molera, Lurz, Eberhard, Gonçalves, Cristina, Jimenez-Rivera, Carolina, Bañales, Jesús M., Shah, Uzma, Thompson, Richard, Hansen, Bettina, Kamath, Binita M.

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Analysis of long-term treatment effects of odevixibat on clinical outcomes in children with progressive familial intrahepatic cholestasis in odevixibat clinical studies vs external... von Hansen, Bettina, Valcheva, Velichka, Yu, Qifeng, van Wessel, Daan, Thompson, Richard, Gonzalès, Emmanuel, Jankowska, Irena, Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Kumar, Kishwer, Alkuraya, Fowzan, Sateesh, Meddirevula, Broering, Dieter Clemens, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Serranti, Daniele, Arıkan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Gonçalves, Cristina, Llanillo, Loreto Hierro, Bartolo, Gema Muñoz, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Sturm, Ekkehard, van der Woerd, Wendy L., Kamath, Binita M., Wang, Jian-She, Liting, Li, Durmaz, Ozlem, Önal, Zerrin, Felzen, Antonia, Nomden, Mark, Sonajalg, Jaak, Stein, Philip, Ni, Quanhong, Clemson, Christine, Mattsson, Jan, Verkade, Henkjan J.

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Electrophysiological assessment of optic neuropathies in neuro‐ophthalmological practice von HAWLINA, M, BRECELJ, J

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The phenotype of compound heterozygous BSEP deficiency patients is determined by the combined residual function of the two ABCB11 mutations: results from the NAPPED consortium von Felzen, Antonia, van Wessel, Daan, Thompson, Richard, Gonzales, Emmanuel, Jankowska, Irena, Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad Ali, Broering, Dieter Clemens, Algoufi, Talal, Mazhar, Nejat, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Hulscher, JBF, Serranti, Daniele, Arıkan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Gonçalves, Cristina, Hierro, Loreto, Bartolo, Gema Muñoz, Glassberg, Yael Mozer, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Sturm, Ekkehard, van der Woerd, Wendy, Kamath, Binita M., Wang, Jian-She, Liting, Li, Durmaz, Ozlem, Kerkar, Nanda, Jørgensen, Marianne Hørby, Fischer, Ryan, Jimenez-Rivera, Carolina, Alam, Seema, Cananzi, Mara, Ruiz, Mathias, Targa, Cristina, Ferrero, Felipe Ordoñez, Wang, Heng, Kim, Kyungmo, Chen, Huey-Ling, Carvalho, Elisa, Hansen, Bettina, Verkade, Henkjan

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Cone electroretinograms to blue flashes on various backgrounds von SUSTAR, M, BRECELJ, J

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Studying electrophysiological characteristics in children with congenital sensory nystagmus‐ case presentations von BRECELJ, J, STIRN‐KRANJC, B

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SAT-048 - The natural course of FIC1 deficiency and BSEP deficiency: Initial results from the NAPPED-consortium (Natural course and Prognosis of PFIC and Effect of biliary Diversio... von van Wessel, D., Thompson, R., Grammatikopoulos, T., Kadaristiana, A., Jankowska, I., Lipiński, P., Czubkowski, P., Gonzales, E., Jacquemin, E., Spraul, A., Sokal, E., Shagrani, M.A., Broering, D.C., Algoufi, T., Mazhar, N., Nicastro, E., Kelly, D., Nebbia, G., Arnell, H., Fischler, B., Sankaranarayanan, S., Hulscher, J., Serranti, D., Arikan, C., Polat, E., Debray, D., Lacaille, F., Goncalves, C., Hierro, L., Bartolo, G.M., Mozer-Glassberg, Y., Azaz, A., Brecelj, J., Dezsőfi, A., Calvo, P.L., Pizzol, A., Schmitt, D., Sturm, E., van der Woerd, W., Hansen, B., Verkade, H.

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