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Akademický článek
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Autor:
Borovečki, Ana, Braš, Marijana, Brkljačić, Boris, Canki-Klain, Nina, Dedić Plavetić, Natalija, Grahovac, Blaženka, Haller, Herman, Jokić-Begić, Nataša, Kirac, Iva, Levanat, Sonja, Matković, Višnja, Podolski, Paula, Sušac, Ilona, Šekerija, Mario, Šerman, Ljiljana, Šprem Goldštajn, Marina, Žic, Rado, Žigman, Tamara
The last few decades have witnessed a great progress in feasibility and clinical utilization of genetic testing for hereditary cancers. Hereditary breast and ovarian cancers are most often the result of BRCA1 and BRCA2 gene mutations. In these guidel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______579::784220204033550b5bbe17e7b2cec565
https://hrcak.srce.hr/file/276132
https://hrcak.srce.hr/file/276132
Autor:
Borovečki, Ana, Braš, Marijana, Brkljačić, Boris, Canki-Klain, Nina, Dedić Plavetić, Natalija, Grahovac, Blaženka, Haller, Herman, Jokić Begić, Nataša, Kirac, Iva, Levanat, Sonja, Matković, Višnja, Podolski, Paula, Sušac, Ilona, Šekerija, Mario, Šerman, Ljiljana, Šprem Goldštajn, Marina, Žic, Rado, Žigman, Tamara
Tijekom posljednjih desetljeća svjedoci smo velikog napretka u izvedivosti i kliničkoj iskoristivosti genetičkog testiranja kod nasljednih karcinoma. Nasljedni karcinomi dojke i jajnika najčešće su posljedica mutacija u genima BRCA1 i BRCA2. Ov
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::d94160c481564a94facf9e6a1030de7f
https://www.bib.irb.hr/897454
https://www.bib.irb.hr/897454
Autor:
Milić, Astrid1 astridmilic@hotmail.com, Canki-Klain, Nina1,2
Publikováno v:
Croatian Medical Journal. 2005, Vol. 46 Issue 4, p657-663. 7p. 2 Diagrams, 3 Charts.
Autor:
Batinić, Drago, Borovečki, Fran, Božina, Nada, Božina, Tamara, Budimir, Ana, Bulić-Jakuš, Floriana, Canki- Klain, Nina, Furač, Ivana, Gajović, Srećko, Gotovac, Kristina, Grčević, Danka, Grgurević, Lovorka, Ježek, Davor, Katavić, Vedran, Katušić Bojanac, Ana, Kovač, Zdenko, Kubat, Milovan, Lacković, Zdravko, Lovrić, Jasna, Mitrečić, Dinko, Nikuševa- Martić, Tamara, Pećina-Šlaus, Nives, Sertić, Jadranka, Sinčić, Nino, Paić, Frane, Šerman, Draško, Šerman, Ljiljana, Šimić, Mirjana, Vlahović, Maja, Vukičević, Slobodan, Babić, Antonija, Caban, Domagoj, Dubravčić, Klara, Fumić, Ksenija, Golemović, Mirna, Kurić, Leila, Lasan, Ružica, Ljubić, Hana, Mazić, Sanja, Merkler, Ana, Mrsić-Davidović, Sanja, Šimičević, Livija, Zadro, Renata, Fučić, Aleksandra, Anđelinović, Šimun, Drmić, Irena, Marušić, Ana, Primorac, Dragan
Drugo izdanje priručnika daje sažeti pregled doprinosa molekularne biologije u području genetike i epigenetike, genomike, transkriptomike, proteomike, nutrigenomike i farmakogenomike, te prikaz modernih trendova u primjeni najnovijih dostignuća u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::d063b18627093a02f325955f76eeeb76
https://www.bib.irb.hr/810181
https://www.bib.irb.hr/810181
Autor:
Canki-Klain, Nina
Specifičnosti genetskog savjetovanja, problemi genetskog testiranja i mogućnosti prenatalne dijagnostike. Uz tehničke probleme vezane uz izvođenje pretraga, posebno su naglašeni etički problemi i dileme.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::922c5e7f254b8194570c4bfa180ac352
https://www.bib.irb.hr/555882
https://www.bib.irb.hr/555882
Autor:
Kovačić, Sanja, Canki-Klain, Nina
Na primjeru obitelji s više različito oboljelih bolesnika s FSHD prikazani su dijagnostičke teškoće i problemi genetskog savjetovanja.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::4d9c93425b730f789f8e630540e05a12
https://www.bib.irb.hr/555904
https://www.bib.irb.hr/555904
Autor:
CANKI-KLAIN, Nina, PAVLIN, Katarina, AVANZO-VELKAVRH Mariija(Ljubljana , Slovenia), AUDREZET, Marie-Pierrre, FEREC, Claude (Brest, France)
Subjects. 28 472 neonates born in Slovenia between October 1994 and March 1996. No selection criteria were applied. Material and methods. Guthrie cards routinely collected as part of a wider neonatal screening programme. Immunoreactive trypsinogen (I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::22ce95f9f6b6eb8ff2830eb3c126f1e9
https://www.bib.irb.hr/417395
https://www.bib.irb.hr/417395
Aim: SMA is autosomal recessive disease with 1/10000 livebirths. 95% SMA patients are homozygous for exon 7 SMN1 deletion, 3.6% are compound heterozygous (with point mutation). SMA carriers are heterozygous with one exon 7 SMN1 copy. Methods: We dete
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::8ad7c6b01d37f51d392e93eca73d9f18
https://www.bib.irb.hr/731449
https://www.bib.irb.hr/731449
Autor:
Canki-Klain, Nina
Prikaz HD od kliničkih simptoma, genetskim karakteristika do slikovnih metoda (MR) histologije te pravnih, socijalnih i etičkih problema.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::fe21af7cdb383bd94667fd35d2fb3d87
https://www.bib.irb.hr/681833
https://www.bib.irb.hr/681833