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Robert Dobrovolný
Robert Dobrovolný
First Faculty of Medicine, Charles University in Prague
Molecular biology
Biology
Gene
Mutation
Megaloblastic anemia
4
Papers
12
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0
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A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia.
2020
Blood
Michael Svatoň
Karolina Skvarova Kramarzova
Veronika Kanderová
Andrea Mancikova
Petr Smisek
Pavel Ješina
Jakub Krijt
Blanka Stibůrková
Robert Dobrovolný
Jitka Sokolová
Violeta Bakardjieva-Mihaylova
Elena Vodickova
Marketa Rackova
Jan Stuchly
Tomas Kalina
Jan Starý
Jan Trka
Eva Fronkova
Viktor Kožich
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Citations (1)
IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing
2019
Investigative Ophthalmology & Visual Science
Kristyna Brejchova
Lubica Dudakova
Pavlina Skalicka
Robert Dobrovolný
Petr Mašek
Martina Putzová
Mariya Moosajee
Stephen J. Tuft
Alice E. Davidson
Petra Liskova
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Citations (9)
Specific storage of glycoconjugates with terminal α-galactosyl moieties in the exocrine pancreas of Fabry disease patients with blood group B.
2018
Glycobiology
Jitka Rybová
Ladislav Kuchař
Helena Hůlková
B. Asfaw
Robert Dobrovolný
Jakub Sikora
Vladimír Havlíček
Ludovit Skultety
J. Ledvinová
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Citations (2)
Folate-Dependent Normocytic Anemia Caused By a Hypomorphic Mutation in SLC19A1 gene
2018
Blood
Michael Svatoň
Karolina Skvarova Kramarzova
Veronika Kanderová
Petr Smisek
Pavel Ješina
Jakub Krijt
Blanka Stibůrková
Andrea Mancikova
Robert Dobrovolný
Violeta Bakardjieva-Mihaylova
Elena Vodickova
Jan Stuchly
Tomas Kalina
Jan Starý
Jan Trka
Eva Fronkova
Viktor Kožich
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