Pregled po projektu: 0108052
Pronađeno 45 radova
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1.Canki-Klain, NinaEtički problemi u medicinskoj genetici // MEDICINSKA ETIKA / Zurak, Niko (ur.).
Zagreb: Medicinski fakultet Sveučilišta u Zagrebu ; Merkur A.B.D., 2007. str. 01-14 -
2.Canki-Klain, NinaClinical, genetic and epidemiological study of calpainopathy (LGMD2A) in Croatia // Abstracts
Plovdiv, Bugarska, 2006. (pozvano predavanje, međunarodna recenzija, sažetak, znanstveni) -
3.Canki-Klain, NinaFocal dermal hypoplasia (Goltz syndrome): family case report with affected mother and two stillborn daudhters // Second Eastern European Conference on Rare Diseases and Orphan Drugs. FOSTERING RESEARCH ON RARE DISEASES IN EASTERN EUROPEAN COUNTRIES diseases in Eastern European
Plovdiv, Bugarska: www.conf2006.raredis.org, 2006. (pozvano predavanje, međunarodna recenzija, sažetak, znanstveni) -
4.Canki-Klain, NinaJuvenile huntington disease (JHD) presenting as progressive speech impairement // Neuromediterranee VIII. : Final Program and Abstracts
Balqa, Jordan, 2006. str. 40-41 (pozvano predavanje, međunarodna recenzija, sažetak, znanstveni) -
5.Canki-Klain, NinaCLINICAL, GENETIC AND EPIDEMIOLOGICAL STUDY OF MAJOR AUTOSOMAL RECESSIVE LIMB GIRDLE MUSCULAR DYSTROPHY (LGMD2) IN CROATIA // NEUROMEDITERRANEE VIII.Final Program and Abstracts
Balqa, Jordan, 2006. str. 34-35 (pozvano predavanje, međunarodna recenzija, sažetak, znanstveni) -
6.Lalić, JasnaMutacija gena PABP2 odgovornog za okulofaringealnu mišićnu distrofiju, 2006., diplomski rad, Prirodoslovno matematički fakultet, Zagreb
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7.Daniele, Nathalie; Milić, Astrid; Bartoli, Marc; Lochmuller, Hanns; Mora, Marina; Comi, Giacomo; Moggio, Maurizio; Noulet, Fanny; Poupiot, Jerome; Richard, IsabelleMeasuring calpain 3 proteolytic activity using an in vitro substrate // Neuromuscular Disorders, 16 (2006), Suppl 1; 54-55 (podatak o recenziji nije dostupan, kongresno priopcenje, znanstveni)
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8.Freixas , A; Canki-Klain, Nina; Olive, M; Rodriguez, M; Calaf, M; Colomer, J; Arteaga, R; Baiget, M; Gallano, PiaLimb girdle muscular dystrophy 2I in Spanish and Croatian population // European ournal of Human Genetics, 14 (2006), Suppl.1. (podatak o recenziji nije dostupan, kongresno priopcenje, znanstveni)
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9.Canki-Klain, NinaCLINICAL, GENETIC AND EPIDEMIOLOGIC CHARACTERISTICS OF MAJOR LIMB GIRDLE MUSCULAR DYSTROPHIES (LGMDs) // GENETIKA 2006.Book of Abstracts/Knjiga povzetkov.4th Congress of Slovenian Genetic Society and 2nd Meeting of the Slovenian Society of Human Genetics with International Participation, September, 28th-October, 1, 2006, Biološko središče, Večna pot 111, Ljubljana / Metka Filipič in Irena Zajc (ur.).
Ljubljana: Birotisk d.o.o., 2006. (pozvano predavanje, međunarodna recenzija, sažetak, znanstveni) -
10.Freixas, Alba; Olive, Montserrat; Canki-Klain, Nina; Povedano, Monica; Jauma, S; Colomer, Jaume; Rodriguez, Maria Jose; Martinez Matos, JA; Baiget, Montserrat; Gallano, PiaLGMD2I in Spanish and Croatian Populations // Neuromuscular Disorders, 16 (2006), Suppl1. (podatak o recenziji nije dostupan, kongresno priopcenje, znanstveni)
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11.Milić, Astrid; Daniele, Nathalie; Bartoli, Marc; Lochmuller, Hans; Mora, Marina; Comi, Giacomo; Moggio, Maurizio; Noulet, Fanny; Poupiot, Jerome; Richard, IsabelleMeasuring Calpain 3 Proteolytic Activity Using an in vitro Substrate // Colloque Dystrophies Musculaires des Ceintures / Limb Girdle Muscular Dystrophies Symposium. Programme et Resumes / Programme and Abstracts / Urtizberea, Jan A. ; Richard, Isabelle (ur.).
Evry: Association Francaise contre les Myopathies, 2006. str. 36-36 (pozvano predavanje, međunarodna recenzija, sažetak, ostalo) -
12.Canki-Klain, Nina; Kovač, Biserka; Milić, Astrid; Malnar, MartinaEtude clinique, génétique et épidémiologique de la dystrophie des ceintures de type 2A (LGMD2A) en Croatie // Colloque Dystrophies Musculaires des Ceintures / Limb Girdle Muscular Dystrophies Symposium. Programme et Resumes /Programme and Abstracts / Urtizberea, Jan A. ; Richard, Isabelle (ur.).
Evry: Association Francaise contre les Myopathies, 2006. str. 43-43 (pozvano predavanje, međunarodna recenzija, sažetak, ostalo) -
13.Canki-Klain, Nina; Milić, Astrid; Malnar, MartinaClinical and non-invasive genetic study of first six Croatian patients with dysferlinopathy // Abstracts of the 10th International Congress of the World Muscle Society (WMS10) ; u: Neuromuscular disorders 15 (2005) (9/10) 653-751 ; Posters 6 ; L.P.2.06 / Dubowitz, V. (ur.).
slapovi Iguaçu, Brazil, 2005. str. 691-692 (poster, međunarodna recenzija, sažetak, znanstveni) -
14.Canki-Klain, NinaNove znanstvene spoznaje psihijatrijske genetike // Interdisciplinarnost u psihijatriji, stručni sastanak povodom 50.obljetnice Psihijatrijske bolnice na Rabu
Rab, Hrvatska, 2005. (pozvano predavanje, neobjavljeni rad, pregledni) -
15.Milić, Astrid; Canki-Klain, NinaMutation and haplotype analysis of calpainopathy (LGMD 2A) in Croatia // Myologie/Myology . International Congress of Myology
Pariz: AFM, 2005. (poster, međunarodna recenzija, sažetak, znanstveni) -
16.Piluso, Giulio; Politano, Luisa; Fanin, M.; Ricci , Enrico; Ventriglia, VM; Belsito, A.; Totaro, A.; Saccone, V.; Topaloglu, H.; Nascimbeni, AC et al.Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes // Journal of medical genetics, 42 (2005), 9; 686-693 doi:10.1136/jmg.2004.028738 (međunarodna recenzija, članak, znanstveni)
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17.Malnar, MartinaDijagnostika pojasne mišićne distrofije tip 2B analizom uzoraka periferne krvi, 2005., diplomski rad, Prirodoslovno matematički fakultet, Zagreb
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18.Milić, Astrid; Canki-Klain, NinaCalpainopathy (LGMD2A) in Croatia: molecular and haplotype analysis // Croatian medical journal, 46 (2005), 4; 657-663 (međunarodna recenzija, članak, znanstveni)
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19.Canki-Klain, Nina; Llense, S.; Miličić, Davor; Potočki, Kristina; Richard, Pascale; Niel, F.; Leturcq, France.; Deburgrave, Nathalie; Demay, L.; Kaplan, Jean-Claude et al.Diagnostic dilemma in an atypical X-linked Emery-Dreifuss family // Neuromuscular disorders, 14 (2004), 8-9; 592-592 (podatak o recenziji nije dostupan, kongresno priopcenje, znanstveni)
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20.Alfirević-Ungarov, Taida; Bilić, Erivna; Canki-Klain, Nina; Guicheney, Pascale; Kosi, Damir; Kovač, Biserka; Kovač, Branislav; Milić, Astrid; Mitrović, Zoran; Sinanović, Osman et al.Novosti u kliničkoj genetici: genetske mišićne bolesti u svakodnevnoj praksi / Canki-Klain , Nina (ur.).
Zagreb: Kolding, 2004 -
21.Canki-Klain, Nina; Fardeau, Michel; Jurčić, Dragan; Jurić, Gordana; Kovač, Ida; Ljubanović, Danica; Milić, Astrid; Sinanović, Osman; Stiglmayer, Neda; Tocilj-Šimunković, Gorana et al.Novosti u kliničkoj genetici: multidisciplinarni pristup dijagnostici, terapiji i prevenciji okulofarinegealne mišićne distrofije (OPMD) / Canki-Klain , Nina (ur.).
Zagreb: Kolding, 2004 -
22.Canki-Klain, NinaDownov sindrom- 45 godina nakon Lejeuneovog otkrića trisomije 21 // Prvi hrvatski simpozij o sindromu Down
Split, Hrvatska, 2004. (pozvano predavanje, sažetak, znanstveni) -
23.Canki-Klain, NinaBARDET-BIEDL SYNDROME, TYPE 6, 2004. (podatak o recenziji nije dostupan, ostalo).
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24.Kovač, IdaRehabilitacija i fizikalna terapija bolesnika s neuromuskularnim bolestima. Samobor: EDOK, Samobor, 2004 (monografija)
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25.Ben Yaou, R; Llense, S; Deburgrave, N; Peccate, C; Canki-Klain, Nina; Amsallem, D : Journel, H; Laforet, P; Kaplan, JC; Leturcq, F; Recan, DExpression clinique des porteuses symptomatiques de mutations du gè ; ne EMD. A propos de 4 cas. // 2emes Assises de Génétique Humaine et Médicale
Angers, 2004. (poster, sažetak, znanstveni)
