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Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases.

Autor: Slaba K; Department of Pediatrics, University Hospital Brno, Faculty of Medicine, Masaryk University, Cernopolni 9, 613 00, Brno, Czech Republic. slaba.katerina@fnbrno.cz., Pokorna P; Central European Institute of Technology, Masaryk University, Brno, Czech Republic.; Department of Biology, Faculty of Medicine, Masaryk University, Kamenice 5, 625 00, Brno, Czech Republic., Jugas R; Central European Institute of Technology, Masaryk University, Brno, Czech Republic.; Department of Biology, Faculty of Medicine, Masaryk University, Kamenice 5, 625 00, Brno, Czech Republic., Palova H; Central European Institute of Technology, Masaryk University, Brno, Czech Republic., Prochazkova D; Department of Pediatrics, University Hospital Brno, Faculty of Medicine, Masaryk University, Cernopolni 9, 613 00, Brno, Czech Republic., Aulicka S; Department of Pediatric Neurology, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic., Spanelova K; Department of Pediatric Neurology, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic., Danhofer P; Department of Pediatric Neurology, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic., Horak O; Department of Pediatric Neurology, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic., Tuckova J; Department of Pediatrics, University Hospital Brno, Faculty of Medicine, Masaryk University, Cernopolni 9, 613 00, Brno, Czech Republic., Kleiblova P; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Gaillyova R; Department of Medical Genetics and Genomics, University Hospital Brno, Faculty of Medicine, Masaryk University Brno, Brno, Czech Republic., Hrunka M; Department of Pediatrics, University Hospital Brno, Faculty of Medicine, Masaryk University, Cernopolni 9, 613 00, Brno, Czech Republic., Jouza M; Department of Pediatrics, University Hospital Brno, Faculty of Medicine, Masaryk University, Cernopolni 9, 613 00, Brno, Czech Republic., Pinkova B; Department of Pediatrics, University Hospital Brno, Faculty of Medicine, Masaryk University, Cernopolni 9, 613 00, Brno, Czech Republic., Papez J; Department of Pediatrics, University Hospital Brno, Faculty of Medicine, Masaryk University, Cernopolni 9, 613 00, Brno, Czech Republic., Konecna P; Department of Pediatrics, University Hospital Brno, Faculty of Medicine, Masaryk University, Cernopolni 9, 613 00, Brno, Czech Republic., Zidkova J; Centre of Molecular Biology and Genetics, Department of Hematology, Oncology and Internal Medicine, Masaryk University and University Hospital Brno, Brno, Czech Republic., Stourac P; Department of Pediatric Anesthesiology and Intensive Care Medicine, University Hospital Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic.; Department of Simulation Medicine, Faculty of Medicine, Masaryk University, Brno, Czech Republic., Sterba J; Department of Pediatric Oncology, Faculty of Medicine, University Hospital Brno, Masaryk University, Brno, Czech Republic., Demlova R; Department of Pharmacology/CZECRIN, Masaryk University Faculty of Medicine, Brno, Czech Republic., Demlova E; Department of Pharmacology/CZECRIN, Masaryk University Faculty of Medicine, Brno, Czech Republic., Jabandziev P; Department of Pediatrics, University Hospital Brno, Faculty of Medicine, Masaryk University, Cernopolni 9, 613 00, Brno, Czech Republic.; Central European Institute of Technology, Masaryk University, Brno, Czech Republic., Slaby O; Central European Institute of Technology, Masaryk University, Brno, Czech Republic. oslaby@med.muni.cz.; Department of Biology, Faculty of Medicine, Masaryk University, Kamenice 5, 625 00, Brno, Czech Republic. oslaby@med.muni.cz.; Center of Precision Medicine, Department of Pathology, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic. oslaby@med.muni.cz.

Publikováno v: Scientific reports [Sci Rep] 2024 Nov 20; Vol. 14 (1), pp. 28780. Date of Electronic Publication: 2024 Nov 20.

Autoimmune Diseases of Digestive Organs-A Multidisciplinary Challenge: A Focus on Hepatopancreatobiliary Manifestation.

Autor: Kunovsky L; Department of Gastroenterology and Internal Medicine, University Hospital Brno, 625 00 Brno, Czech Republic.; Department of Surgery, University Hospital Brno, 625 00 Brno, Czech Republic.; Faculty of Medicine, Masaryk University, 625 00 Brno, Czech Republic., Dite P; Department of Gastroenterology and Internal Medicine, University Hospital Brno, 625 00 Brno, Czech Republic.; Department of Gastroenterology and Internal Medicine, University Hospital Ostrava, 728 00 Ostrava, Czech Republic.; Faculty of Medicine, University of Ostrava, 703 00 Ostrava, Czech Republic., Jabandziev P; Faculty of Medicine, Masaryk University, 625 00 Brno, Czech Republic.; Department of Pediatrics, University Hospital Brno, 613 00 Brno, Czech Republic.; Central European Institute of Technology, Masaryk University, 625 00 Brno, Czech Republic., Kala Z; Department of Surgery, University Hospital Brno, 625 00 Brno, Czech Republic.; Faculty of Medicine, Masaryk University, 625 00 Brno, Czech Republic., Vaculova J; Department of Gastroenterology and Internal Medicine, University Hospital Brno, 625 00 Brno, Czech Republic.; Faculty of Medicine, Masaryk University, 625 00 Brno, Czech Republic., Andrasina T; Faculty of Medicine, Masaryk University, 625 00 Brno, Czech Republic.; Department of Radiology and Nuclear Medicine, University Hospital Brno, 625 00 Brno, Czech Republic., Hrunka M; Faculty of Medicine, Masaryk University, 625 00 Brno, Czech Republic.; Department of Pediatrics, University Hospital Brno, 613 00 Brno, Czech Republic., Bojkova M; Department of Gastroenterology and Internal Medicine, University Hospital Ostrava, 728 00 Ostrava, Czech Republic.; Faculty of Medicine, University of Ostrava, 703 00 Ostrava, Czech Republic., Trna J; Department of Gastroenterology and Internal Medicine, University Hospital Brno, 625 00 Brno, Czech Republic.; Faculty of Medicine, Masaryk University, 625 00 Brno, Czech Republic.; Department of Gastroenterology and Digestive Endoscopy, Masaryk Memorial Cancer Institute, 602 00 Brno, Czech Republic.

Publikováno v: Journal of clinical medicine [J Clin Med] 2021 Dec 11; Vol. 10 (24). Date of Electronic Publication: 2021 Dec 11.