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Autor:
Jedličková I; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic., Cadieux-Dion M; Centre Hospitalier de L´Universite de Montréal, Montréal, QC, Canada.; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA., Přistoupilová A; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic., Stránecký V; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic., Hartmannová H; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic., Hodaňová K; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic., Barešová V; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic., Hůlková H; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Institute of Pathology, First Faculty of Medicine and General University Hospital, Charles University, Prague, Czech Republic., Sikora J; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Institute of Pathology, First Faculty of Medicine and General University Hospital, Charles University, Prague, Czech Republic., Nosková L; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic., Mušálková D; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic., Vyleťal P; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic., Sovová J; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic., Cossette P; Centre Hospitalier de L´Universite de Montréal, Montréal, QC, Canada., Andermann E; Montreal Neurological Hospital & Institute, McGill University, Montreal, QC, Canada., Andermann F; Montreal Neurological Hospital & Institute, McGill University, Montreal, QC, Canada., Kmoch S; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic. skmoch@lf1.cuni.cz.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2020 Jun; Vol. 28 (6), pp. 783-789. Date of Electronic Publication: 2020 Jan 09.