부산대학교 도서관

Mauring, L.; Puusepp, S.; Parik, M.; Roomets, E.; Teek, R.; Reimand, T.; Pajusalu, S.; Kaljurand, K.; Õunap, K.

In European Journal of Medical Genetics September 2023 66(9)

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

Loberti L; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Bruno LP; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Granata S; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Doddato G; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Resciniti S; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Fava F; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Carullo M; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Rahikkala E; Department of Clinical Genetics, PEDEGO Research Unit, and Medical Research Center Oulu, University of Oulu and Oulu University Hospital, Oulu 90014, Finland.; Jouret G; National Center of Genetics (NCG), Laboratoire national de santé (LNS), L-3555 Dudelange, Luxembourg.; Menke LA; Amsterdam UMC location University of Amsterdam, Department of Pediatrics, Amsterdam 1100, The Netherlands.; Lederer D; Institut de Pathologie et de Génétique; Centre de Génétique Humaine, Gosselies 6041, Belgium.; Vrielynck P; William Lennox Neurological Hospital, Reference Center for Refractory Epilepsy UCLouvain, Ottignies 1340, Belgium.; Ryba L; Department of Biology and Medical Genetics, Charles University - 2nd Faculty of Medicine and University Hospital Motol, Prague 150 00, Czech Republic.; Brunetti-Pierri N; Department of Translational Medicine, University of Naples 'Federico II', Naples 80125, Italy.; Lasa-Aranzasti A; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain.; Cueto-González AM; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain.; Trujillano L; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain.; Valenzuela I; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain.; Tizzano EF; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain.; Spinelli AM; Regional Coordinating Center for Rare Diseases, Udine 33100, Italy.; Bruno I; Institute for Maternal and Child Health, Trieste 34100, Italy.; Currò A; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano 39100, Italy.; Stanzial F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano 39100, Italy.; Benedicenti F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano 39100, Italy.; Lopergolo D; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa 98125, Italy.; Santorelli FM; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa 98125, Italy.; Aristidou C; Department of Clinical Genetics and Genomics, The Cyprus Institute of Neurology & Genetics, Nicosia 1683, Cyprus.; Tanteles GA; Department of Clinical Genetics and Genomics, The Cyprus Institute of Neurology & Genetics, Nicosia 1683, Cyprus.; Maystadt I; Institut de Pathologie et de Génétique; Centre de Génétique Humaine, Gosselies 6041, Belgium.; Tkemaladze T; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi 0162, Georgia.; Reimand T; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia.; Lokke H; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia.; Õunap K; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia.; Haanpää MK; Department of Genomics and Clinical Genetics, Turku University Hospital, Turku 20500, Finland.; Holubová A; Department of Biology and Medical Genetics, Charles University - 2nd Faculty of Medicine and University Hospital Motol, Prague 150 00, Czech Republic.; Zoubková V; Department of Biology and Medical Genetics, Charles University - 2nd Faculty of Medicine and University Hospital Motol, Prague 150 00, Czech Republic.; Schwarz M; Department of Biology and Medical Genetics, Charles University - 2nd Faculty of Medicine and University Hospital Motol, Prague 150 00, Czech Republic.; Žordania R; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Muru K; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia.; Roht L; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia.; Tihveräinen A; Department of Child Neurology, Turku University Hospital, Turku 20500, Finland.; Teek R; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Thomson U; Centre for Neurological Diseases, West-Tallinn Central Hospital, Tallinn 10617, Estonia.; Atallah I; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, 1011 Lausanne, Switzerland.; Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, 1011 Lausanne, Switzerland.; Buoni S; Division of Child and Adolescent Neuropsychiatry, University of Siena, Siena 53100, Italy.; Canitano R; Division of Child and Adolescent Neuropsychiatry, University of Siena, Siena 53100, Italy.; Scandurra V; Division of Child and Adolescent Neuropsychiatry, University of Siena, Siena 53100, Italy.; Rossetti A; Clinical Paediatrics, Department of Molecular Medicine and Development, University of Siena, Siena 53100, Italy.; Grosso S; Clinical Paediatrics, Department of Molecular Medicine and Development, University of Siena, Siena 53100, Italy.; Battini R; IRCCS Stella Maris Foundation, Department of Developmental Neuroscience, Pisa 98125, Italy.; Department of Clinical and Experimental Medicine, University of Pisa, Pisa 56122, Italy.; Baldassarri M; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Mencarelli MA; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Rizzo CL; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Bruttini M; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Mari F; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Ariani F; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Renieri A; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.; Pinto AM; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.

Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Yakoreva M; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Kahre T; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Žordania R; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Reinson K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Teek R; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Tillmann V; Department of Paediatrics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Children's Clinic, Tartu University Hospital, Tartu, Estonia.; Peet A; Department of Paediatrics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Children's Clinic, Tartu University Hospital, Tartu, Estonia.; Õiglane-Shlik E; Department of Paediatrics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Children's Clinic, Tartu University Hospital, Tartu, Estonia.; Pajusalu S; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Murumets Ü; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Vals MA; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Children's Clinic, Tartu University Hospital, Tartu, Estonia.; Mee P; United Laboratories, Tartu University Hospital, Tartu, Estonia.; Wojcik MH; Divisions of Newborn Medicine and Genetics and Genomics, Boston Children's Hospital, Boston, MA, 02115, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia. katrin.ounap@kliinikum.ee.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia. katrin.ounap@kliinikum.ee.; Broad Institute of MIT and Harvard, Cambridge, MA, USA. katrin.ounap@kliinikum.ee.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Joost, K.; Tammur, P.; Teek, R.; Žilina, O.; Peters, M.; Kreile, M.; Lace, B.; Žordania, R.; Talvik, I.; Õunap, K.

Molecular Syndromology; 2010, Vol. 1 Issue 6, p311-315, 5p

Reinson K; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Paediatrics, University of Tartu, Tartu, Estonia.; Õiglane-Shlik E; Department of Paediatrics, University of Tartu, Tartu, Estonia.; Children's Clinic, Tartu University Hospital, Tartu, Estonia.; Talvik I; Department of Paediatrics, University of Tartu, Tartu, Estonia.; Children's Clinic, Tartu University Hospital, Tartu, Estonia.; Vaher U; Children's Clinic, Tartu University Hospital, Tartu, Estonia.; Õunapuu A; Neurology Clinic, Tartu University Hospital, Tartu, Estonia.; Ennok M; Neurology Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Neurology and Neurosurgery, University of Tartu, Tartu, Estonia.; Teek R; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Paediatrics, University of Tartu, Tartu, Estonia.; Pajusalu S; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Institute of Biomedicine and Translational Medicine, Department of Biomedicine, University of Tartu, Tartu, Estonia.; Murumets Ü; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Tomberg T; Radiology Clinic, Tartu University Hospital, Tartu, Estonia.; Puusepp S; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Piirsoo A; Institute of Biomedicine and Translational Medicine, Department of Biomedicine, University of Tartu, Tartu, Estonia.; Reimand T; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Paediatrics, University of Tartu, Tartu, Estonia.; Institute of Biomedicine and Translational Medicine, Department of Biomedicine, University of Tartu, Tartu, Estonia.; Õunap K; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Paediatrics, University of Tartu, Tartu, Estonia.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Õiglane-Shlik E; Department of Pediatrics, Faculty of Medicine, University of Tartu, Tartu, Estonia; Children's Clinic, Tartu University Hospital, Tartu, Estonia. Electronic address: eve.oiglane-slik@kliinikum.ee.; Puusepp S; Faculty of Medicine, University of Tartu, Tartu, Estonia.; Talvik I; Department of Pediatrics, Faculty of Medicine, University of Tartu, Tartu, Estonia; Children's Clinic, Tartu University Hospital, Tartu, Estonia.; Vaher U; Children's Clinic, Tartu University Hospital, Tartu, Estonia.; Rein R; Children's Clinic, Tartu University Hospital, Tartu, Estonia.; Tammur P; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Reimand T; Department of Pediatrics, Faculty of Medicine, University of Tartu, Tartu, Estonia; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Biomedicine, Institute of Biomedicine and Centre for Translational Medicine, University of Tartu, Tartu, Estonia.; Teek R; Department of Pediatrics, Faculty of Medicine, University of Tartu, Tartu, Estonia; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Žilina O; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.; Tomberg T; Department of Neurology and Neurosurgery, Faculty of Medicine, University of Tartu, Tartu, Estonia.; Õunap K; Department of Pediatrics, Faculty of Medicine, University of Tartu, Tartu, Estonia; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2130 (Electronic) Linking ISSN: 10903798 NLM ISO Abbreviation: Eur J Paediatr Neurol Subsets: MEDLINE

Vals MA; 1 Department of Genetics, United Laboratories, Tartu University Hospital , Tartu, Estonia .; 2 Department of Pediatrics, University of Tartu , Tartu, Estonia .; 3 Children's Clinic, Tartu University Hospital , Tartu, Estonia .; Yakoreva M; 1 Department of Genetics, United Laboratories, Tartu University Hospital , Tartu, Estonia .; 2 Department of Pediatrics, University of Tartu , Tartu, Estonia .; Kahre T; 1 Department of Genetics, United Laboratories, Tartu University Hospital , Tartu, Estonia .; 2 Department of Pediatrics, University of Tartu , Tartu, Estonia .; Mee P; 4 United Laboratories, Tartu University Hospital , Tartu, Estonia .; Muru K; 1 Department of Genetics, United Laboratories, Tartu University Hospital , Tartu, Estonia .; 2 Department of Pediatrics, University of Tartu , Tartu, Estonia .; Joost K; 1 Department of Genetics, United Laboratories, Tartu University Hospital , Tartu, Estonia .; Teek R; 1 Department of Genetics, United Laboratories, Tartu University Hospital , Tartu, Estonia .; 2 Department of Pediatrics, University of Tartu , Tartu, Estonia .; Soellner L; 5 Institute of Human Genetics , RWTH Aachen, Aachen, Germany .; Eggermann T; 5 Institute of Human Genetics , RWTH Aachen, Aachen, Germany .; Õunap K; 1 Department of Genetics, United Laboratories, Tartu University Hospital , Tartu, Estonia .; 2 Department of Pediatrics, University of Tartu , Tartu, Estonia .

Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101494210 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1945-0257 (Electronic) Linking ISSN: 19450257 NLM ISO Abbreviation: Genet Test Mol Biomarkers Subsets: MEDLINE

Muru, K.; Kalev, I.; Teek, R.; Sõnajalg, M.; Kuuse, K.; Reimand, T.; Õunap, K.

Molecular Syndromology; 2010, Vol. 1 Issue 6, p307-310, 4p

Joost K; The Centre of Excellence for Translational Medicine, Tartu University Hospital, Tartu.; Tammur P; Teek R; Zilina O; Peters M; Kreile M; Lace B; Zordania R; Talvik I; Ounap K

Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE