부산대학교 도서관

Steiner Mrázová L; Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic, cuni.cz.; Vrbacká A; Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic, cuni.cz.; Majer F; Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic, cuni.cz.; Stránecký V; Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic, cuni.cz.; Nosková L; Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic, cuni.cz.; Záhoráková D; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic, cuni.cz.; Májovská J; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic, cuni.cz.; Bitar I; Department of Microbiology, Faculty of Medicine and University Hospital Pilsen, Charles University, Pilsen, Czech Republic, cuni.cz.; Biomedical Center, Faculty of Medicine, Charles University, Pilsen, Czech Republic, cuni.cz.; Klempíř J; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic, cuni.cz.; Šaligová J; Department of Paediatrics and Adolescent Medicine, Faculty of Medicine, P. J. Šafárik University and Children's Faculty Hospital Košice, Košice, Slovakia.; Majlingová S; Department of Paediatrics and Adolescent Medicine, Faculty of Medicine, P. J. Šafárik University and Children's Faculty Hospital Košice, Košice, Slovakia.; Giertlová M; Department of Neurology, Faculty of Medicine, P. J. Šafárik University, Košice, Slovakia, upjs.sk.; Department of Clinical Neurosciences, Center of Clinical and Preclinical Research MEDIPARK, P. J. Šafárik University, Košice, Slovakia, upjs.sk.; Drenčáková P; Outpatient Clinic of Medical Genetics, Unilabs, Košice, Slovakia, unilabs.pt.; Harvanová D; Associated Tissue Bank, Faculty of Medicine, P.J. Šafárik University and L. Pasteur University Hospital in Košice, Košice, Slovakia.; Solařová P; Department of Medical Genetics, University Hospital Hradec Králové, Hradec Králové-Nový, Czech Republic, fnhk.cz.; Brůha R; 4th Department of Internal Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic, cuni.cz.; Dušek P; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic, cuni.cz.; Department of Radiology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic, cuni.cz.; Kmoch S; Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic, cuni.cz.; Sikora J; Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic, cuni.cz.; Institute of Pathology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic, cuni.cz.; Jedličková I; Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic, cuni.cz.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Kleiblová P; Stolařová L; Křížová K; Lhota F; Hojný J; Zemánková P; Havránek O; Vočka M; Černá M; Lhotová K; Borecká M; Janatová M; Soukupová J; Ševčík J; Zimovjanová M; Kotlas J; Panczak A; Veselá K; Červenková J; Schneiderová M; Burócziová M; Burdová K; Stránecký V; Foretová L; Macháčková E; Tavandzis S; Kmoch S; Macůrek L; Kleibl Z

Publisher: Ceská lékarská spolecnost Country of Publication: Czech Republic NLM ID: 9425213 Publication Model: Print Cited Medium: Internet ISSN: 1802-5307 (Electronic) Linking ISSN: 0862495X NLM ISO Abbreviation: Klin Onkol Subsets: MEDLINE

Soukupová J; Lhotová K; Zemánková P; Vočka M; Janatová M; Stolařová L; Borecká M; Kleiblová P; Macháčková E; Foretová L; Koudová M; Lhota F; Tavandzis S; Zikán M; Stránecký V; Veselá K; Panczak A; Kotlas J; Kleibl Z

Publisher: Ceská lékarská spolecnost Country of Publication: Czech Republic NLM ID: 9425213 Publication Model: Print Cited Medium: Internet ISSN: 1802-5307 (Electronic) Linking ISSN: 0862495X NLM ISO Abbreviation: Klin Onkol Subsets: MEDLINE

Neřoldová M; Ciara E; Slatinská J; Fraňková S; Lišková P; Kotalová R; Globinovská J; Šafaříková M; Pfeiferová L; Zůnová H; Mrázová L; Stránecký V; Vrbacká A; Fabián O; Sticová E; Skanderová D; Šperl J; Kalousová M; Zima T; Macek M; Pawlowska J; Knisely AS; Kmoch S; Jirsa M

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE; PubMed not MEDLINE

Vrbacká A; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Přistoupilová A; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Kidd KO; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Wake Forest University School of Medicine, Section on Nephrology, Winston-Salem, North Carolina, USA.; Janoušek V; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Radina M; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Vyleťal P; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Bitar I; Department of Microbiology, Faculty of Medicine and University Hospital Pilsen, Charles University, Pilsen, Czechia.; Biomedical Center, Faculty of Medicine, Charles University, Pilsen, Czechia.; Stránecký V; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Steiner-Mrázová L; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Trešlová H; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Sovová J; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Hodaňová K; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Hartmannová H; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Mušálková D; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Svojšová K; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Kmochová T; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Barešová V; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Taylor A; Wake Forest University School of Medicine, Section on Nephrology, Winston-Salem, North Carolina, USA.; Martin L; Wake Forest University School of Medicine, Section on Nephrology, Winston-Salem, North Carolina, USA.; Sanchez A; Wake Forest University School of Medicine, Section on Nephrology, Winston-Salem, North Carolina, USA.; Ryšavá R; Department of Nephrology, First Faculty of Medicine, Charles University in Prague and General Teaching Hospital in Prague, Prague, Czech Republic.; Lajtmanová I; B. Braun Avitum, Bratislava, Slovakia.; Rajnochová-Bloudíčková S; Department of Nephrology, Transplant Centre, Institute for Clinical and Experimental Medicine, Videnska 1958, Prague 14021, Czech Republic.; Viklický O; Department of Nephrology, Transplant Centre, Institute for Clinical and Experimental Medicine, Videnska 1958, Prague 14021, Czech Republic.; Papagregorius G; Molecular Medicine Research Center, biobank.cy Center of Excellence in Biobanking and Biomedical Research, University of Cyprus, Nicosia, Cyprus.; Deltas C; Molecular Medicine Research Center, biobank.cy Center of Excellence in Biobanking and Biomedical Research, University of Cyprus, Nicosia, Cyprus.; Medical School, University of Cyprus, Nicosia, Cyprus.; Stavrou C; Evangelismos Private Hospital, Pafos, Cyprus.; Jorge S; Department of Nephrology and Renal Transplant, Hospital de Santa Maria, CHULN, EPE, Lisbon, Portugal.; Lopes JA; Department of Nephrology and Renal Transplant, Hospital de Santa Maria, CHULN, EPE, Lisbon, Portugal.; Rodrigues M; Department of Medical Genetics, Hospital de Santa Maria, ULSSM, Lisbon, Portugal.; Elhassan E; Department of Nephrology Beaumont Hospital Dublin Ireland.; Clince M; Department of Nephrology Beaumont Hospital Dublin Ireland.; Rowan C; Department of Nephrology Beaumont Hospital Dublin Ireland.; Conlon P; Department of Nephrology and Renal Transplant, Hospital de Santa Maria, CHULN, EPE, Lisbon, Portugal.; Department of Medicine, Royal College of Surgeons, Dublin, Ireland.; Teltsh O; School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons, Dublin, Ireland.; Cavalleri GL; Department of Nephrology and Renal Transplant, Hospital de Santa Maria, CHULN, EPE, Lisbon, Portugal.; Blumenstiel B; Broad Clinical Labs, The Broad Institute, Cambridge, Massachusetts, USA.; Toledo D; Broad Clinical Labs, The Broad Institute, Cambridge, Massachusetts, USA.; DiStefano M; Broad Clinical Labs, The Broad Institute, Cambridge, Massachusetts, USA.; DeFelice M; Broad Clinical Labs, The Broad Institute, Cambridge, Massachusetts, USA.; Živná M; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Wake Forest University School of Medicine, Section on Nephrology, Winston-Salem, North Carolina, USA.; Bleyer AJ Sr; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Wake Forest University School of Medicine, Section on Nephrology, Winston-Salem, North Carolina, USA.; Kmoch S; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Wake Forest University School of Medicine, Section on Nephrology, Winston-Salem, North Carolina, USA.

Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Šúri, T.; Jiřincová, H.; Nagy, A.; Vostřák, D.; Večeřová, J.; Orlíková, H.; Niklova, E.; Malý, M.; Macková, B.; Liptáková, M.; Kynčl, J.; Kozáková, J.; Fialová, A.; Pfeiferová, L.; Šáchová, J.; Pasulka, J.; Moravčík, O.; Medová, H.; Kubovčiak, J.; Kocourková, Š.; Hradilová, M.; Ehler, E.; Kolář, M.; Pačes, J.; Horna, P.; Bezdíček, M.; Svatoň, J.; Lengerová, M.; Trachtová, K.; Tichý, B.; Hejret, V.; Bystrý, V.; Hampl, V.; Tachezy, R.; Treitli, S.C.; Stránecký, V.; Sobotíková, K.; Pospíšek, M.; Poláková, I.; Nunvář, J.; Novotný, M.; Jančářová, M.; Hrdá, Š.; Hamplová, B.; González, A.J.; Franko, F.; Berka, K.; Yushkevich, A.; Jaroměřská, M.; Kolísko, M.; Wisniewska, M.; Tice, A.; Šíma, R.; Silberman, J.; Salomaki, E.; Nenarokov, S.; Bartoš, J.; Brož, P.; Čech, M.; Lexa, M.; Čechová, M.; Černý, J.; Chudějová, K.; Zajíc, T.; Štillerová, K.; Kracík, M.; Dolinová, I.; Dřevínek, P.; Paszeková, H.; Furman, V.; Füssy, Z.; Gančarčíková, M.; Slavkovský, R.; Šiška, B.; Macháň, J.; Hajdúch, M.; Ruda, M.; Matyska, L.; Holub, P.; Mrázek, J.; Ježo, E.; Klimeš, D.; Kučerová, J.F.; Matějová, K.; Obr, A.; Tomková, M.; Vrbský, J.; Zmuda, M.

In: Scientific Reports. (Scientific Reports, December 2025, 15(1))

Kousal, B; Honzík, T; Hansíková, H; Ondrušková, N; Čechová, A; Tesařová, M; Stránecký, V; Meliška, M; Michaelides, M; Lišková, P

Folia Biologica. 65:134-141

Mušálková D; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.; Přistoupilová A; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.; Jedličková I; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.; Hartmannová H; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.; Trešlová H; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.; Nosková L; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.; Hodaňová K; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.; Bittmanová P; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.; Stránecký V; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.; Jiřička V; Department of Psychology, Prison Service of the Czech Republic, Prague, Czech Republic.; Department of Psychiatry, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic.; Langmajerová M; Department of Psychiatry, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic.; Woodbury-Smith M; The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Faculty of Medical Sciences, Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK.; Zarrei M; The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Trost B; The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Scherer SW; The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics and McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada.; Bleyer AJ; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.; Vevera J; Department of Psychiatry, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic.; Department of Psychiatry, University Hospital Pilsen, Pilsen, Czech Republic.; Kmoch S; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.; Department of Psychiatry, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic.

Publisher: Munksgaard Country of Publication: England NLM ID: 101129617 Publication Model: Print Cited Medium: Internet ISSN: 1601-183X (Electronic) Linking ISSN: 1601183X NLM ISO Abbreviation: Genes Brain Behav Subsets: MEDLINE

Janatová M; CZECANCA consortium, Czech Republic. mjana@lf1.cuni.cz.; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic. mjana@lf1.cuni.cz.; Borecká M; CZECANCA consortium, Czech Republic.; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Zemánková P; CZECANCA consortium, Czech Republic.; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Institute of Pathological Physiology, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Matějková K; Department of Genetics and Microbiology, Faculty of Science, Charles University, Prague, Czech Republic.; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Nehasil P; CZECANCA consortium, Czech Republic.; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Institute of Pathological Physiology, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Černá L; CZECANCA consortium, Czech Republic.; Centre for Medical Genetics and Reproductive Medicine, GENNET, Prague, Czech Republic.; Černá M; CZECANCA consortium, Czech Republic.; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Dušková P; CZECANCA consortium, Czech Republic.; Laboratory of Molecular Biology and Genetics, Hospital Ceske Budejovice, Ceske Budejovice, Czech Republic.; Doležalová T; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Foretová L; CZECANCA consortium, Czech Republic.; Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic.; Havránek O; BIOCEV, First Faculty of Medicine, Charles University, Prague, Czech Republic.; CZECANCA consortium, Czech Republic.; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Házová J; CZECANCA consortium, Czech Republic.; Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic.; Horáčková K; CZECANCA consortium, Czech Republic.; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Hovhannisyan M; CZECANCA consortium, Czech Republic.; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Hrušková L; CZECANCA consortium, Czech Republic.; GHC Genetics, Prague, Czech Republic.; Chvojka Š; CZECANCA consortium, Czech Republic.; Centre for Medical Genetics and Reproductive Medicine, GENNET, Prague, Czech Republic.; Janíková M; CZECANCA consortium, Czech Republic.; Department of Medical Genetics, Faculty of Medicine and Dentistry, University Hospital Olomouc, Palacky University Olomouc, Olomouc, Czech Republic.; Kalousová M; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Kosařová M; CZECANCA consortium, Czech Republic.; Department of Medical Genetics, PRONATAL Sanatorium, Prague, Czech Republic.; Koudová M; CZECANCA consortium, Czech Republic.; Centre for Medical Genetics and Reproductive Medicine, GENNET, Prague, Czech Republic.; Krhutová V; Department of Medical Genetics, AGEL Laboratories, AGEL Research and Training Institute, Novy Jicin, Czech Republic.; Krulišová V; CZECANCA consortium, Czech Republic.; GHC Genetics, Prague, Czech Republic.; Macháčková E; CZECANCA consortium, Czech Republic.; Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic.; Michalovská R; CZECANCA consortium, Czech Republic.; GHC Genetics, Prague, Czech Republic.; Němcová B; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Novotný J; CZECANCA consortium, Czech Republic.; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Šafaříková M; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Šťastná B; CZECANCA consortium, Czech Republic.; Department of Biochemistry, Faculty of Science, Charles University, Prague, Czech Republic.; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Stránecký V; CZECANCA consortium, Czech Republic.; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Šubrt I; CZECANCA consortium, Czech Republic.; Department of Medical Genetics, Faculty of Medicine in Pilsen, Charles University and University Hospital Pilsen, Pilsen, Czech Republic.; Tavandzis S; CZECANCA consortium, Czech Republic.; Department of Medical Genetics, AGEL Laboratories, AGEL Research and Training Institute, Novy Jicin, Czech Republic.; Vlčková Z; CZECANCA consortium, Czech Republic.; GHC Genetics, Prague, Czech Republic.; Vočka M; CZECANCA consortium, Czech Republic.; Department of Oncology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague.; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Vrtěl R; CZECANCA consortium, Czech Republic.; Department of Medical Genetics, Faculty of Medicine and Dentistry, University Hospital Olomouc, Palacky University Olomouc, Olomouc, Czech Republic.; Zima T; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Soukupová J; CZECANCA consortium, Czech Republic.; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Kleiblová P; CZECANCA consortium, Czech Republic.; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Kleibl Z; CZECANCA consortium, Czech Republic.; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Institute of Pathological Physiology, First Faculty of Medicine, Charles University, Prague, Czech Republic.

Publisher: Univerzita Karlova v Praze - 1. lékařská fakulta Country of Publication: Czech Republic NLM ID: 0234640 Publication Model: Print Cited Medium: Internet ISSN: 0015-5500 (Print) Linking ISSN: 00155500 NLM ISO Abbreviation: Folia Biol (Praha) Subsets: MEDLINE

Živná M; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic.; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina.; Dostálová G; Second Department of Internal Cardiovascular Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.; Barešová V; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic.; Mušálková D; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic.; Svojšová K; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic.; Meiseles D; The Mina and Everard Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat-Gan, Israel.; Kinstlinger S; The Mina and Everard Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat-Gan, Israel.; Kuchař L; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic.; Asfaw B; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic.; Poupětová H; Department of Neurology and Centre of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic.; Vlášková H; Diagnostic Laboratory, Department of Pediatrics and Inherited Metabolic Disorders, General University Hospital, Prague, Czech Republic.; Kmochová T; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic.; Vyleťal P; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic.; Hartmannová H; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic.; Hodaňová K; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic.; Stránecký V; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic.; Steiner-Mrázová L; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic.; Hnízda A; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic.; Živný J; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic.; Radina M; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic.; Votruba M; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic.; Sovová J; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic.; Trešlová H; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic.; Stolnaja L; Diagnostic Laboratory, Department of Pediatrics and Inherited Metabolic Disorders, General University Hospital, Prague, Czech Republic.; Reková P; Department of Neurology and Centre of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic.; Roblová L; Second Department of Internal Cardiovascular Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.; Honsová E; AeskuLab Pathology, Prague, Czech Republic.; Institute of Pathology, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.; Rychlík I; Department of Medicine, Third Faculty of Medicine, Charles University in Prague and Faculty Hospital Kralovske Vinohrady, Prague, Czech Republic.; Dvela-Levitt M; The Mina and Everard Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat-Gan, Israel.; Bleyer AJ; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic.; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina.; Linhart A; Second Department of Internal Cardiovascular Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.; Sikora J; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic.; Institute of Pathology, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.; Kmoch S; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic.; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina.

Publisher: Wolters Kluwer Health, on behalf of the American Society of Nephrology Country of Publication: United States NLM ID: 9013836 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1533-3450 (Electronic) Linking ISSN: 10466673 NLM ISO Abbreviation: J Am Soc Nephrol Subsets: MEDLINE; In Process

Franková V; Svozilová H; Stránecký V; Kozubík KS; Srovnal J; Benešová L; Uvírová M; Macek M; Pospíšilová Š

Publisher: Ceskoslovenska Lekarska Spolecnost Country of Publication: Czech Republic NLM ID: 0004743 Publication Model: Print Cited Medium: Print ISSN: 0008-7335 (Print) Linking ISSN: 00087335 NLM ISO Abbreviation: Cas Lek Cesk Subsets: MEDLINE

Wohlfahrtova, M.; Novotny, M.; Viklicky, O.; Hruba, P.; Klema, J.; Krejcik, Z.; Stranecky, V.; Honsova, E.; Vichova, P.

In: Clinical Science. (Clinical Science, 1 October 2018, 132(20):2269-2284)

Šilhavý J; Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic.; Mlejnek P; Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic.; Šimáková M; Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic.; Liška F; Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic.; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.; Malínská H; Center for Experimental Medicine, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.; Marková I; Center for Experimental Medicine, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.; Hüttl M; Center for Experimental Medicine, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.; Miklánková D; Center for Experimental Medicine, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.; Mušálková D; Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Stránecký V; Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Kmoch S; Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Sticová E; Center for Experimental Medicine, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.; Department of Pathology, Third Faculty of Medicine, Charles University, Prague, Czech Republic.; Vrbacký M; Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic.; Mráček T; Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic.; Pravenec M; Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic.; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.

Publisher: American Physiological Society Country of Publication: United States NLM ID: 9815683 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-2267 (Electronic) Linking ISSN: 10948341 NLM ISO Abbreviation: Physiol Genomics Subsets: MEDLINE

Baumgartner D; Department of Neurology, Neuromuscular Center, Charles University, 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Mušová Z; Department of Biology and Medical Genetics, Charles University, 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Zídková J; Center for Molecular Biology and Genetics, Internal Haematology and Oncology Clinic, University Hospital Brno and Faculty of Medicine, Masaryk University Brno, Czech Republic.; Hedvičáková P; Department of Biology and Medical Genetics, Charles University, 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Vlčková E; Department of Neurology, Neuromuscular Center, University Hospital Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic.; Joppeková L; Department of Neurology, Neuromuscular Center, University Hospital Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic.; Kramářová T; Center for Molecular Biology and Genetics, Internal Haematology and Oncology Clinic, University Hospital Brno and Faculty of Medicine, Masaryk University Brno, Czech Republic.; Fajkusová L; Center for Molecular Biology and Genetics, Internal Haematology and Oncology Clinic, University Hospital Brno and Faculty of Medicine, Masaryk University Brno, Czech Republic.; Stránecký V; Department of Pediatrics and Inherited Metabolic Disorders, Research Unit for Rare Diseases, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic.; Geryk J; Department of Biology and Medical Genetics, Charles University, 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Votýpka P; Department of Biology and Medical Genetics, Charles University, 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Mazanec R; Department of Neurology, Neuromuscular Center, Charles University, 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

Publisher: SAGE Publications Country of Publication: United States NLM ID: 101649948 Publication Model: Print Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE

Nosková L; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University in Prague, 128 08 Prague 2, Czech Republic.; Fukata Y; Division of Membrane Physiology, Department of Molecular and Cellular Physiology, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Okazaki 444-8787, Japan.; Department of Physiological Sciences, School of Life Science, SOKENDAI (The Graduate University for Advanced Studies), Okazaki 444-8585, Japan.; Division of Molecular and Cellular Pharmacology, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan.; Stránecký V; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University in Prague, 128 08 Prague 2, Czech Republic.; Šaligová J; Children's Faculty Hospital, Košice 040 11, Slovakia.; Bodnárová O; Children's Faculty Hospital, Košice 040 11, Slovakia.; Giertlová M; Medical Genetics Outpatient Service, Unilabs Slovakia Ltd, Košice 040 01, Slovakia.; Department of Paediatric and Adolescent Medicine, Faculty of Medicine, P.J. Šafárik University,Košice 040 01, Slovak Republic.; Fukata M; Division of Membrane Physiology, Department of Molecular and Cellular Physiology, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Okazaki 444-8787, Japan.; Department of Physiological Sciences, School of Life Science, SOKENDAI (The Graduate University for Advanced Studies), Okazaki 444-8585, Japan.; Division of Neuropharmacology, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan.; Kmoch S; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University in Prague, 128 08 Prague 2, Czech Republic.

Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

Neřoldová M; Institute for Clinical and Experimental Medicine, Prague, Czech Republic.; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Ciara E; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Slatinská J; Institute for Clinical and Experimental Medicine, Prague, Czech Republic.; Fraňková S; Institute for Clinical and Experimental Medicine, Prague, Czech Republic.; Lišková P; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Department of Pediatrics and Inherited Metabolic Diseases, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Kotalová R; Department of Pediatrics, Second Faculty of Medicine, Charles University and Faculty Hospital Motol, Prague, Czech Republic.; Globinovská J; Department of Pediatrics, Hospital Poprad, Poprad, Slovak Republic.; Šafaříková M; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Pfeiferová L; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Department of Informatics and Chemistry, University of Chemistry and Technology in Prague, Prague, Czech Republic.; Zůnová H; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Mrázová L; Department of Pediatrics and Inherited Metabolic Diseases, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Stránecký V; Department of Pediatrics and Inherited Metabolic Diseases, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Vrbacká A; Department of Pediatrics and Inherited Metabolic Diseases, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Fabián O; Institute for Clinical and Experimental Medicine, Prague, Czech Republic.; Department of Pathology and Molecular Medicine, 3rd Faculty of Medicine, Charles University and Thomayer Hospital, Prague, Czech Republic.; Sticová E; Institute for Clinical and Experimental Medicine, Prague, Czech Republic.; Skanderová D; Department of Pathology, Faculty of Medicine and Dentistry, Palacky University Olomouc and Faculty Hospital, Olomouc, Czech Republic.; Šperl J; Institute for Clinical and Experimental Medicine, Prague, Czech Republic.; Kalousová M; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Zima T; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Macek M; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Pawlowska J; Department of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland.; Knisely AS; Diagnostik- und Forschungsinstitut für Pathologie, Medizinische Universität Graz, Graz, Austria.; Kmoch S; Department of Pediatrics and Inherited Metabolic Diseases, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Jirsa M; Institute for Clinical and Experimental Medicine, Prague, Czech Republic.; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

Steeg, E. van de; Stránecký, V.; Hartmannová, H.; Nosková, L.; Hrebícek, M.; Wagenaar, E.; Esch, A. van; Waart, D.R. de; Oude Elferink, R.P.J.; Kenworthy, K.E.; Sticová, E.; Al-Edreesi, M.; Knisely, A.S.; Kmoch, S.; Milan Jirsa, M.; Schinkel, A.H.

Journal of Clinical Investigation, 2012(2), pp. 519-528.

Najim Lahrouchi; Alex V. Postma; Christian M. Salazar; Daniel M. De Laughter; Fleur Tjong; Lenka Piherová; Forrest Z. Bowling; Dominic Zimmerman; Elisabeth M. Lodder; Asaf Ta-Shma; Zeev Perles; Leander Beekman; Aho Ilgun; Quinn Gunst; Mariam Hababa; Doris Škorić-Milosavljević; Viktor Stránecký; Viktor Tomek; Peter de Knijff; Rick de Leeuw; Jamille Y. Robinson; Sabrina C. Burn; Hiba Mustafa; Matthew Ambrose; Timothy Moss; Jennifer Jacober; Dmitriy M. Niyazov; Barry Wolf; Katherine H. Kim; Sara Cherny; Andreas Rousounides; Aphrodite Aristidou-Kallika; George Tanteles; Bruel Ange-Line; Anne-Sophie Denommé-Pichon; Christine Francannet; Damara Ortiz; Monique C. Haak; Arend D. J. Ten Harkel; Gwendolyn T.R. Manten; Annemiek C. Dutman; Katelijne Bouman; Monia Magliozzi; Francesca Clementina Radio; Gijs W.E. Santen; Johanna C. Herkert; H. Alex Brown; Orly Elpeleg; Maurice J.B. van den Hoff; Barbara Mulder; Michael V. Airola; Stanislav Kmoch; Joey V. Barnett; Sally-Ann Clur; Michael A. Frohman; Connie R. Bezzina

Journal of Clinical Investigation. 131

Janovska, P.; Bardova, K.; Irodenko, I.; Haasova, E.; Steiner Mrazova, L.; Rossmeisl, M.; Zouhar, P.; Kopecky, J.; Prouzova, Z.; Kobets, T.; Stranecky, V.; Kmoch, S.

In: Frontiers in Pediatrics. (Frontiers in Pediatrics, 2025, 13)

V, Stránecký; M, Neřoldová; K, Hodaňová; H, Hartmannová; L, Piherová; P, Zemánková; A, Přistoupilová; M, Vrablík; V, Adámková; S, Kmoch; M, Jirsa

Physiological Research. :1005-1011