Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Sasso, Antun"'
Autor:
Velepic, Mitja S. *, Sasso, Antun B., Ahel, Vladimir V., Starcevic, Radan A., Komljenovic, Dean B., Velepic, Marko M.
Publikováno v:
In International Journal of Pediatric Otorhinolaryngology 2005 69(7):953-957
Autor:
Delin, Sanja, Sabol, Zlatko, Kovač-Šižgorić, Matilda, Sasso, Antun, Prpić, Igor, Marušić Della Marina, Branka
Publikováno v:
Paediatria Croatica
Volume 60
Volume 60
Mutacija gena PCDH19, koji kodira protokaderin 19 na kromosomu Xq22, rezultira epilepičkim sindromom s početkom napadaja u dojenačkoj dobi, s blagim do teškim intelektualnim oštećenjem i autističnim obilježjima ili bez njih. Ovaj poremećaj p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0c76577072a918da93c663d4ce2ad81f
https://repository.medri.uniri.hr/islandora/object/medri:1723
https://repository.medri.uniri.hr/islandora/object/medri:1723
Publikováno v:
Medicina Fluminensis : Medicina Fluminensis
Volume 51
Issue 2
Volume 51
Issue 2
Voltažno ovisni natrijski kanali sudjeluju u ekscitabilnosti neurona, nužni su za inicijaciju i propagaciju akcijskog potencijala u neuronima. Mutacija SCN1A gena (engl. sodium channel, voltage gated, type I alpha subunit) koji kodira α1 podjedini
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4fb64b508f26d6a5f2e4e1e119d8582d
https://repository.medri.uniri.hr/islandora/object/medri:775/datastream/FILE0
https://repository.medri.uniri.hr/islandora/object/medri:775/datastream/FILE0
Autor:
Delin, Sanja, Sabol, Zlatko, Kovač-Šižgorić, Matilda, Sasso, Antun, Prpić, Igor, Marušić Della Marina, Branka
Introduction Mutation in PCDH 19 gene, encoding prothocadherin 19 on chromosome Xq22, results in an epileptic syndrome of seizure onset in infancy, mild to severe intellectual impairment with or without autistic features. This disorder demonstrates a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::38928d471ca6a85e414757e5b7aa4ddd
https://www.bib.irb.hr/784368
https://www.bib.irb.hr/784368
Miotonička distrofija ili Steinertova bolest druga je po učestalosti mišićna distrofija u djetinjstvu, odmah nakon progresivnih mišićnih distrofija (Duchenne i Becker). Incidencija u općoj populaciji iznosi 1:8000 u Europi, 1:30000 u Hrvatskoj
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::013042e18aef310b05d490ef2b6051d7
https://www.bib.irb.hr/747377
https://www.bib.irb.hr/747377
Publikováno v:
Acta Medica Okayama. 53(3):127-131
The subject of this study is the electromyographic investigation of the velopharyngeal sphincter structures. Seventy-five patients underwent examination, both patients with symptoms of velopharyngeal insufficiency and patients who were thought to hav
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=jairo_______::2dd98b89e09f28cc70833b5b45c6d4c8
https://ousar.lib.okayama-u.ac.jp/31642
https://ousar.lib.okayama-u.ac.jp/31642
Miotonična distrofija ili Steinertova bolest druga je po učestalosti mišićna distrofija u djetinjstvu, odmah nakon progresivnih mišićnih distrofija (Duchenne i Becker).Incidencija u općoj populaciji je od 1:8000 u Europi do 1:30000 u Hrvatskoj
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::b97473a26c1dfd9bf8bd56346b8ecead
https://www.bib.irb.hr/682333
https://www.bib.irb.hr/682333
Publikováno v:
Liječnički vjesnik
Volume 135
Issue 7-8
Volume 135
Issue 7-8
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0642c61a511a3db4411be6698d847189
https://repository.medri.uniri.hr/islandora/object/medri:7621
https://repository.medri.uniri.hr/islandora/object/medri:7621
Akademický článek
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Autor:
Sabol, Zlatko, Gjergja Juraški, Romana, Kovač Šižgorić, Matilda, Sabol, Filip, Kipke Sabol, Ljiljana, Mejaški Bošnjak, Vlatka, Cvitanović Šojat, Ljerka, Rešić, Biserka, Sasso, Antun, Hafner, Krasanka, Petrinović Dorešić, Jelena, Oršolić, Krešo, Kapitanović, Sanja, Barišić, Nina
Neurofibromatoza tip 1 jedan je od najčešćih autosomno dominantnih poremećaja u čovjeka. Gen NF1 je veliki i složen gen, lokaliziran na kromosomu 17q11.2. Danas su u upotrebi brojne tehnike suvremene analize DNA kojima je moguće utvrditi speci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::0bdf382464e86082d869b0ac6c47fb37
https://www.bib.irb.hr/628295
https://www.bib.irb.hr/628295