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novel mutations
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MUDr. Ludmila Hornofová
External person at Second Faculty of Medicine
18 publications
Publications
publication
Early-onset pulmonary and cutaneous vasculitis driven by constitutively active SRC-family kinase HCK
2022 |
Second Faculty of Medicine
publication
Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood
2015 |
Second Faculty of Medicine, Third Faculty of Medicine
publication
Homozygous EXOSC3 Mutation c.92G -> C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma
2013 |
Second Faculty of Medicine
publication
What is your diagnosis? Multiple rhabdomyoma of the heart and disorder of neuronal migration in the brain (precursor to cortical tuber) as a part ot the tuberous sclerosis syndrome
2011 |
Second Faculty of Medicine
publication
Spectrum of post mortem autopsy findings in native and surgically corrected hearts with congenital malformations: A 10-year single center experience
2021 |
Second Faculty of Medicine, Third Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Eosinophilic myocarditis as a manifestation of eosinophilic granulomatosis with polyangiitis
2020 |
Second Faculty of Medicine
publication
Patologie
2019 |
Second Faculty of Medicine, First Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Pilsen, Faculty of Medicine in Hradec Králové
publication
Histopathological evidence of aortopathy in newborns and infants with Tetralogy of Fallot at the time of the surgical repair
2019 |
Second Faculty of Medicine
publication
Right ventricular outflow tract obstruction
2019 |
Second Faculty of Medicine
publication
[F-18] Fluorodeoxyglucose PET/CT and prediction of histopathological response to neoadjuvant chemotherapy for adenocarcinoma of the oesophagus and oesophagogastric junction
2018 |
Second Faculty of Medicine, First Faculty of Medicine
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