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Autor:
Ljubas Perčić, Daria, Krmek, Nikola, Benko, Ivica, Kniewald, Hrvoje, Bitanga, Suzana, Katavić, Matej, Perčić, Marko
Publikováno v:
BMC Cardiovascular Disorders; 1/20/2023, Vol. 23 Issue 1, p1-8, 8p
Arrhythmogenic cardiomyopathy (arrhythmogenic right ventricular dysplasia) is a hereditary heart muscle disease characterized pathologically by dystrophy and fibrofatty replacement of the right ventricular myocardium, consequently causing ventricle d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::fb04710a760a3341c832c7d7fd065cc6
https://www.bib.irb.hr/1248108
https://www.bib.irb.hr/1248108
Atrioventricular (AV) block is defined as a delay or interruption in the transmission of an impulse from the atria to the ventricles due to an anatomical or functional impairment in the conduction system. The conduction disturbance can be transient o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::f33a2a51ca693ca28d4882af81cda624
https://www.bib.irb.hr/1058229
https://www.bib.irb.hr/1058229
Autor:
Malenica, Maša, Kukuruzović, Monika, Bitanga, Suzana, Krakar, Goran, Valent, Bernardica, Cvitanović-Šojat Ljerka
Friedreichova ataksija je autosomno recesivna bolest koja je najčešća među nasljednim ataksijama. Bolest je karakterizirana ekspresijom nestabilne ponavljajuće GAA sekvence trinukleotida koja se nalazi u prvom intronu gena FXN na 9. kromosomu. K
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::7be9babacc21a454b51168ce035427b0
https://www.bib.irb.hr/1079122
https://www.bib.irb.hr/1079122
Autor:
Malenica, Maša, Kukuruzović, Monika, Bitanga, Suzana, Krakar, Goran, Cvitanović-Šojat, Ljerka
Cilj: Prikazati dva različita klinička fenotipa u brata i sestre kao posljedice dinamičke mutacije tj. povećanog broja tripleta GAA u intronu 1 gena za frataksin (FXN) na 9. kromosomu na oba alela. Kod oboje se radi o alelima s punom mutacijom (>
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::fa445a4934c4f9fb1c731df2808afc70
https://www.bib.irb.hr/682316
https://www.bib.irb.hr/682316
Publikováno v:
Rad Hrvatske Akademije Znanosti i Umjetnosti. Medicinske Znanosti. 2019, Issue 48/49, p67-70. 4p.
Identical mutation associated with distinct clinical phenotypes of Friedreich's ataxia: case report.
Autor:
Malenica, Maša, Kukuruzović, Monika, Bitanga, Suzana, Krakar, Goran, Valent, Bernardica, Cvitanović-Šojat, Ljerka
Publikováno v:
Paediatria Croatica; Oct-Dec2014, Vol. 58 Issue 4, p291-294, 4p