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Search Results - Durovcíková, Darina
Search Results - Durovcíková, Darina
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Expanding the phenotype of thrombocytopenia absent radius syndrome with hypospadias
by
Miertuš, Ján
,
Maltese, Paolo Enrico
,
Hýblová, Michaela
,
Tomková, Erika
,
Ďurovčíková, Darina
,
Rísová, Vanda
,
Bertelli, Matteo
Published in
Journal of biotechnology
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Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters
by
Gatticchi, Leonardo
,
Vešelényiová, Dominika
,
Miertus, Jan
,
Enrico Maltese, Paolo
,
Manara, Elena
,
Costantini, Alisia
,
Benedetti, Sabrina
,
Ďurovčíková, Darina
,
Krajcovic, Juraj
,
Bertelli, Matteo
Published in
Molecular genetics & genomic medicine
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Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays
by
Kolejáková, Katarína
,
Petrovic, Robert
,
Futas, Ján
,
Turcáni, Peter
,
Durovcíková, Darina
,
Chandoga, Ján
Published in
General physiology and biophysics
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Thirty‐Nine Novel Neurofibromatosis 1 (NF1) Gene Mutations Identified in Slovak Patients
by
Nemethova, Martina
,
Bolcekova, Anna
,
Ilencikova, Denisa
,
Durovcikova, Darina
,
Hlinkova, Katarina
,
Hlavata, Anna
,
Kovacs, Laszlo
,
Kadasi, Ludevit
,
Zatkova, Andrea
Published in
Annals of human genetics
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Thirty-Nine Novel Neurofibromatosis 1 ( NF1) Gene Mutations Identified in Slovak Patients: NF1 in Slovakia
by
Nemethova, Martina
,
Bolcekova, Anna
,
Ilencikova, Denisa
,
Durovcikova, Darina
,
Hlinkova, Katarina
,
Hlavata, Anna
,
Kovacs, Laszlo
,
Kadasi, Ludevit
,
Zatkova, Andrea
Published in
Annals of human genetics
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