부산대학교 도서관

Rossi A; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, member of the ERN-EpiCARE, Dianalund, Denmark.; IRCCS Eugenio Medea Scientific Institute, Conegliano, Treviso, Italy.; Pediatric Clinic, IRCCS San Matteo Hospital Foundation, University of Pavia, Italy.; Department of Clinical, Surgical, Diagnostic and Pediatric Sciences, University of Pavia, Italy.; Lin SXN; Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, New South Wales, Australia.; Absalom NL; School of Science, University of Western Sydney, New South Wales, Australia.; Ortiz-De la Rosa S; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, member of the ERN-EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark.; Instituto Roosevelt, Bogotá, Colombia.; Liao VWY; Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, New South Wales, Australia.; Mohammadi NA; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, member of the ERN-EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark.; Viswanathan S; Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, Australia.; Stödberg T; Department of Child Neurology, Karolinska University Hospital, Stockholm, Sweden.; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.; Danieli A; IRCCS E. Medea Scientific Institute, Epilepsy Unit, Conegliano, Treviso, Italy.; Bonanni P; IRCCS E. Medea Scientific Institute, Epilepsy Unit, Conegliano, Treviso, Italy.; Aeby A; Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), Université Libre de Bruxelles, Brussels, Belgium.; Orsini A; Pediatric Neurology, University Hospital of Pisa, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy.; Bonuccelli A; Pediatric Neurology, University Hospital of Pisa, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy.; Rüegger A; Department of Neuropediatrics, University Children's Hospital Zurich, Switzerland.; Giraldez BG; Epilepsy Unit, Neurology Service, Hospital Universitario and IIS Fundación Jiménez Díaz and CIBERER, Madrid, Spain.; Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Stüve B; Department of Neuropediatrics, Children's Hospital Siegen, Germany.; Marini C; Child Neurology and Psychiatric Unit, Pediatric Hospital G. Salesi, Azienda Ospedaliero-Universitaria delle Marche, Ancona, Italy.; Cesaroni E; Child Neurology and Psychiatric Unit, Pediatric Hospital G. Salesi, Azienda Ospedaliero-Universitaria delle Marche, Ancona, Italy.; Fenger CD; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, member of the ERN-EpiCARE, Dianalund, Denmark.; Amplexa Genetics, Odense, Denmark.; Philippe C; UFR des Sciences de Santé, GAD 'Génétique des Anomalies du Développement', INSERM-Université de Bourgogne UMR1231, Fédération Hospitalo-Universitaire (FHU)-TRANSLAD, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospital-Universitaire-TRANSLAD, CHU Dijon Bourgogne, France.; Laboratoire de Génétique, Hôpital Mercy, CHR Metz-Thionville, France.; Meunier C; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.; Lederer D; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.; Moortgat S; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.; Spinelli E; Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.; Fallica E; Neurology Unit, University Hospital of Ferrara, Italy.; Zeiner F; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Bauman M; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Licchetta L; IRCCS Istituto delle Scienze Neurologiche di Bologna, Full Member of European Reference Network EpiCARE, Bologna, Italy.; Bisulli F; IRCCS Istituto delle Scienze Neurologiche di Bologna, Full Member of European Reference Network EpiCARE, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy.; Operto FF; Department of Science of Health School of Medicine, University of Magna Graecia Catanzaro, Italy.; Benkel-Herrenbrueck I; Sana-Krankenhaus Düsseldorf-Gerresheim, Academic Teaching Hospital der Heinrich-Heine-University Düsseldorf, Germany.; Gorman KM; Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.; School of Medicine and Medical Science, University College Dublin, Ireland.; Johannesen KM; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, member of the ERN-EpiCARE, Dianalund, Denmark.; Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Denmark.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Germany.; Schnabel F; Institute of Human Genetics, University of Leipzig Medical Center, Germany.; Lagae L; Department of Development and Regeneration, Section Paediatric Neurology, University Hospital Leuven, Belgium.; Laufs M; Department of Neuropediatrics, University Hospital Schleswig-Holstein, Christian-Albrechts-University, Kiel, Germany.; Zordania R; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Estonia.; Malone S; Department of Neurosciences, Queensland Children's Hospital, South Brisbane, Australia.; Centre for Advanced Imaging, University of Queensland, St Lucia, Australia.; Messana T; IRCCS, Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichitaria dell'età Pediatrica, Bologna, Italy.; Werckx W; Jessa Hospital, Hasselt, Belgium.; Jonsson C; Department of Pediatrics, Vrinnevi Hospital, Norrköping, Sweden.; Afawi Z; Ben-Gurion University of the Negev, Beer-Sheva, Israel.; Erasmus MC, Rotterdam, the Netherlands.; Foiadelli T; Pediatric Clinic, IRCCS San Matteo Hospital Foundation, University of Pavia, Italy.; Halleb Y; Department of Medical Genetics, Le Mans Hospital, France.; Stoeva R; Department of Medical Genetics, Le Mans Hospital, France.; Jennesson-Lyver M; Department of Pediatrics, CHU, Reims, France.; Lesca G; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM U1315, France.; Guerrini R; Paediatric Neurology Unit and Laboratories, Neuroscience Department, Member of ERN Epicare and ITHACA, Meyer Children's Hospital IRCCS, Florence, Italy.; University of Florence, Italy.; Berkovic SF; Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, Australia.; Scheffer IE; Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, Australia.; Royal Children's Hospital, Florey Institute and Murdoch Children's Research Institute, Melbourne, Australia; and.; Chebib M; Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, New South Wales, Australia.; Gardella E; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, member of the ERN-EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark.; Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, member of the ERN-EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark.; Rubboli G; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, member of the ERN-EpiCARE, Dianalund, Denmark.; Institute of Clinical Medicine, University of Copenhagen, Denmark.; Ahring PK; Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, New South Wales, Australia.

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

Vals, M.A.; Morava, E.; Teeäär, K.; Zordania, R.; Pajusalu, S.; Lefeber, D.J.; Õunap, K.

American Journal of Medical Genetics. Part A, 173, 6, pp. 1620-1624

Hoornaert, Kristien P.; Vereecke, Inge; Dewinter, Chantal; Rosenberg, Thomas; Beemer, Frits A.; Leroy, Jules G.; Bendix, Laila; Björck, Erik; Bonduelle, Maryse; Boute, Odile; Cormier-Daire, Valerie; de Die-Smulders, Christine; Dieux-Coeslier, Anne; Dollfus, Hélène; Elting, Mariet; Green, Andrew; Guerci, Veronica I.; Hennekam, Raoul C. M.; Hilhorts-Hofstee, Yvonne; Holder, Muriel; Hoyng, Carel; Jones, Kristi J.; Josifova, Dragana; Kaitila, Ilkka; Kjaergaard, Suzanne; Kroes, Yolande H.; Lagerstedt, Kristina; Lees, Melissa; Lemerrer, Martine; Magnani, Cinzia; Marcelis, Carlo; Martorell, Loreto; Mathieu, Michèle; McEntagart, Meriel; Mendicino, Angela; Morton, Jenny; Orazio, Gabrielli; Paquis, Véronique; Reish, Orit; Simola, Kalle O. J.; Smithson, Sarah F.; Temple, Karen I.; van Aken, Elisabeth; van Bever, Yolande; van den Ende, Jenneke; van Hagen, Johanna M.; Zelante, Leopoldo; Zordania, Riina; de Paepe, Anne; Leroy, Bart P.; de Buyzere, Marc; Coucke, Paul J.; Mortier, Geert R.; Bjorck, E.; van der Ende, J.

Hoornaert, K P, Vereecke, I, Dewinter, C, Rosenberg, T, Beemer, F A, Leroy, J G, Bendix, L, Bjorck, E, Bonduelle, M, Boute, O, Cormier-Daire, V, De Die-Smulders, C, Dollfus, H, Elting, M, Green, A, Guerci, V I, Hennekam, R C M, Hilhorts-Hofstee, Y, Holder, M, Hoyng, C, Jones, K J, Josifova, D, Kaitila, I, Kjaergaard, S, Kroes, Y H, Lagerstedt, K, Lees, M, LeMerrer, M, Magnani, C, Marcelis, C, Martorell, L, Mathieu, M, McEntagart, M, Mendicino, A, Morton, J, Orazio, G, Paquis, V, Reish, O, Simola, K O J, Smithson, S F, Temple, K I, Van Aken, E, van Bever, Y, van der Ende, J, van Hagen, J M, Zelante, L, Zordania, R, De Paepe, A, Leroy, B P, de Buyzere, M, Coucke, P J & Mortier, G R 2010, 'Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients', European Journal of Human Genetics, vol. 18, no. 8, pp. 872-880. https://doi.org/10.1038/ejhg.2010.23
European Journal of Human Genetics, 18, 8, pp. 872-80

Teek, R ; Kruustük, K ; Žordania, R ; Joost, K ; Kahre, T ; Tõnisson, N ; Nelis, M ; Zilina, O ; Tranebjaerg, L ; Reimand, T ; Õunap, K

In Advances in Medical Sciences 1 December 2013 58(2):419-428

Joost, K.; Rodenburg, R.J.T.; Piirsoo, A.; Heuvel, L.P. van den; Zordania, R.; Poder, H.; Talvik, I.; Kilk, K.; Soomets, U.; Ounap, K.

Molecular Syndromology, 3, 3, pp. 113-119

Joost, K.; Rodenburg, R.J.T.; Piirsoo, A.; van den Heuvel, B.; Zordania, R.; Ounap, K.

Pediatric Neurology, 42, 3, pp. 227-30

Krabbi, K. ; Uudelepp, M.-L. ; Joost, K. ; Zordania, R. ; Õunap, K.

In Molecular Genetics and Metabolism 2011 103(3):249-253

Joost, K; Ounap, K; Zordania, R; Uudelepp, M-L; Olsen, R K; Kall, K; Kilk, K; Soomets, U; Kahre, T

JIMD Reports ISBN: 9783642247576
Joost, K, Ounap, K, Zordania, R, Uudelepp, M-L, Olsen, R K, Kall, K, Kilk, K, Soomets, U & Kahre, T 2012, 'Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia', JIMD Reports, vol. 2, pp. 79-85. https://doi.org/10.1007/8904_2011_51

K, Joost; P, Tammur; R, Teek; O, Zilina; M, Peters; M, Kreile; B, Lace; R, Zordania; I, Talvik; K, Ounap

Molecular Syndromology. 1:311-315

E, Kurvinen; K, Aasvee; R, Zordania; M, Jauhiainen; J, Sundvall

Scandinavian Journal of Clinical and Laboratory Investigation. 65:541-550

KURVINEN, E.; AASVEE, K.; ZORDANIA, R.; JAUHIAINEN, M.; SUNDVALL, J.

Scandinavian Journal of Clinical and Laboratory Investigation. Jan 01, 2005 65(7):541-550

K, Ounap; O, Uibo; R, Zordania; L, Kiho; T, Ilus; E, Oiglane-Shlik; O, Bartsch

American Journal of Medical Genetics Part A. :415-423

Loberti, L.; Bruno, L.P.; Granata, S.; Doddato, G.; Resciniti, S.; Fava, F.; Carullo, M.; Baldassarri, M.; Bruttini, M.; Mari, F.; Ariani, F.; Renieri, A.; Rahikkala, E.; Jouret, G.; Menke, L.A.; Lederer, D.; Maystadt, I.; Vrielynck, P.; Ryba, L.; Holubová, A.; Zoubková, V.; Schwarz, M.; Brunetti-Pierri, N.; Lasa-Aranzasti, A.; Cueto-González, A.M.; Trujillano, L.; Valenzuela, I.; Tizzano, E.F.; Spinelli, A.M.; Bruno, I.; Currò, A.; Stanzial, F.; Benedicenti, F.; Lopergolo, D.; Santorelli, F.M.; Aristidou, C.; Tanteles, G.A.; Tkemaladze, T.; Reimand, T.; Lokke, H.; Õunap, K.; Žordania, R.; Muru, K.; Roht, L.; Teek, R.; Haanpää, M.K.; Tihveräinen, A.; Thomson, U.; Atallah, I.; Superti-Furga, A.; Buoni, S.; Canitano, R.; Scandurra, V.; Rossetti, A.; Grosso, S.; Battini, R.; Mencarelli, M.A.; Rizzo, C.L.; Pinto, A.M.

In: Human Molecular Genetics. (Human Molecular Genetics, 15 December 2022, 31(24):4131-4142)

R V, Mikelsaar; R, Zordania; M, Viikmaa; G, Kudrjavtseva

Journal of Medical Screening. 5:20-21

Sarv, S.; Kahre, T.; Pajusalu, S.; Muru, K.; Muhu, K.; Õunap, K.; Vaidla, E.; Žordania, R.; Põder, H.; Talvik, I.; Gross-Paju, K.; Ütt, S.; Õiglane-Shlik, E.

In: Frontiers in Genetics. (Frontiers in Genetics, 22 December 2021, 12)

Kristien P Hoornaert; Inge Vereecke; Chantal Dewinter; Thomas Rosenberg; Frits A Beemer; Jules G Leroy; Laila Bendix; Erik Björck; Maryse Bonduelle; Odile Boute; Valerie Cormier-Daire; Christine De Die-Smulders; Anne Dieux-Coeslier; Hélène Dollfus; Mariet Elting; Andrew Green; Veronica I Guerci; Raoul CM Hennekam; Yvonne Hilhorts-Hofstee; Muriel Holder; Carel Hoyng; Kristi J Jones; Dragana Josifova; Ilkka Kaitila; Suzanne Kjaergaard; Yolande H Kroes; Kristina Lagerstedt; Melissa Lees; Martine LeMerrer; Cinzia Magnani; Carlo Marcelis; Loreto Martorell; Michèle Mathieu; Meriel McEntagart; Angela Mendicino; Jenny Morton; Gabrielli Orazio; Véronique Paquis; Orit Reish; Kalle OJ Simola; Sarah F Smithson; Karen I Temple; Elisabeth Van Aken; Yolande Van Bever; Jenneke van den Ende; Johanna M Van Hagen; Leopoldo Zelante; Riina Zordania; Anne De Paepe; Bart P Leroy; Marc De Buyzere; Paul J Coucke; Geert R Mortier

European Journal of Human Genetics. 18:881-881

Hoornaert, Kristien P.; Vereecke, Inge; Dewinter, Chantal; Rosenberg, Thomas; Beemer, Frits A.; Leroy, Jules G.; Bendix, Laila; Björck, Erik; Bonduelle, Maryse; Boute, Odile; Cormier-Daire, Valerie; de Die-Smulders, Christine; Dieux-Coeslier, Anne; Dollfus, Hélène; Elting, Mariet; Green, Andrew; Guerci, Veronica I.; Hennekam, Raoul C. M.; Hilhorts-Hofstee, Yvonne; Holder, Muriel; Hoyng, Carel; Jones, Kristi J.; Josifova, Dragana; Kaitila, Ilkka; Kjaergaard, Suzanne; Kroes, Yolande H.; Lagerstedt, Kristina; Lees, Melissa; Lemerrer, Martine; Magnani, Cinzia; Marcelis, Carlo; Martorell, Loreto; Mathieu, Michèle; McEntagart, Meriel; Mendicino, Angela; Morton, Jenny; Orazio, Gabrielli; Paquis, Véronique; Reish, Orit; Simola, Kalle O. J.; Smithson, Sarah F.; Temple, Karen I.; van Aken, Elisabeth; van Bever, Yolande; van den Ende, Jenneke; van Hagen, Johanna M.; Zelante, Leopoldo; Zordania, Riina; de Paepe, Anne; Leroy, Bart P.; de Buyzere, Marc; Coucke, Paul J.; Mortier, Geert R.

European journal of human genetics. 18(8):881-881

Kalev I; Department of Human Biology and Genetics, Institute of General and Molecular Pathology, University of Tartu, Tartu, Estonia. ingrid.kalev@ut.ee; Muru K; Teek R; Zordania R; Reimand T; Köbas K; Ounap K

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE

Reimand T; Department of Paediatrics, University of Tartu, Tartu, Estonia. tiia.reimand@kliinikum.ee; Ounap K; Zordania R; Ilus T; Uibo O; Sitska M; Talvik T

Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 8709766 Publication Model: Print Cited Medium: Print ISSN: 0269-5022 (Print) Linking ISSN: 02695022 NLM ISO Abbreviation: Paediatr Perinat Epidemiol Subsets: MEDLINE

Pravata, V.M.; Gundogdu, M.; Bartual, S.G.; Ferenbach, A.T.; van Aalten, D.M.F.; Stavridis, M.; Õunap, K.; Pajusalu, S.; Žordania, R.; Wojcik, M.H.

In: FEBS Letters. (FEBS Letters, 1 February 2020, 594(4):717-727)