부산대학교 도서관

Kristi, Simenson; Eve, Õiglane-Shlik; Rita, Teek; Kati, Kuuse; Katrin, Õunap

American Journal of Medical Genetics Part A. 164:806-809

Oja KT; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Ilisson M; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Reinson K; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Muru K; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Reimand T; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Peterson H; Institute of Computer Science, Faculty of Science and Technology, University of Tartu, Tartu, Estonia.; Fishman D; Institute of Computer Science, Faculty of Science and Technology, University of Tartu, Tartu, Estonia.; STACC OÜ, Tartu, Estonia.; Haller T; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.; Kronberg J; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.; Estonian Biobank Research Team; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.; Wojcik MH; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, United States.; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, United States.; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA, United States.; Kennedy AD; Metabolon, Morrisville, NC, United States.; Sommerville L; Metabolon, Morrisville, NC, United States.; Michelotti G; Metabolon, Morrisville, NC, United States.; O'Donnell-Luria A; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, United States.; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, United States.; Õiglane-Shlik E; Department of Pediatrics, Institute of Clinical Medicine, Faculty of Medicine, University of Tartu, Tartu, Estonia.; Children's Clinic, Tartu University Hospital, Tartu, Estonia.; Pajusalu S; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Õunap K; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE

Estévez-Arias B; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Sarv S; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Bonello-Palot N; Marseille Medical Genetics, Aix-Marseille University-Inserm UMR 1251, Marseille, France.; Genetic Department, Timone Hospital, APHM, Marseille, France.; Carrera-García L; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Ortez C; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Expósito-Escudero J; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Yubero D; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Department of Genetic and Molecular Medicine-IPER, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Muchart J; Department of Radiology, Hospital Sant Joan de Déu, Barcelona, Spain.; Delmont E; Reference Center for Neuromuscular Disorders and ALS, APHM, CHU La Timone, Filnemus, ERN Neuro-NMD, Marseille, France.; Õiglane-Shlik E; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Children's Clinic, Tartu University Hospital, Tartu, Estonia.; Meren T; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Puusepp S; Department of Pathology, Tartu University Hospital, Tartu, Estonia.; Murumets Ü; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Salomons GS; Department Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Udd B; Folkhälsan Research Center, Helsinki, Finland.; Medicum, University of Helsinki, Helsinki, Finland.; Tampere Neuromuscular Center, Tampere University Hospital, Tampere, Finland.; Väli L; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Neurology Clinic, Tartu University Hospital, Tartu, Estonia.; Cantarero L; Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Nascimento A; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Ramón-Maiques S; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Structure of Macromolecular Targets Unit, Instituto de Biomedicina de Valencia (IBV), CSIC, Valencia, Spain.; Centro de Investigación Príncipe Felipe (CIPF), Associated Unit to IBV-CSIC, Valencia, Spain.; Õunap K; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Hoenicka J; Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Natera-de Benito D; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Palau F; Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Hospital Sant Joan de Déu, Barcelona, Spain.; Division of Pediatrics, Faculty of Medicine and Health Sciences, Universitat de Barcelona, Barcelona, Spain.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

Õunap, Katrin ; Muru, Kai ; Õiglane-Shlik, Eve ; Ilves, Pilvi ; Pajusalu, Sander ; Kuus, Imbi ; Wojcik, Monica H. ; Reimand, Tiia

In European Journal of Medical Genetics February 2020 63(2)

Simenson, Kristi; Õiglane-Shlik, Eve; Teek, Rita; Kuuse, Kati; Õunap, Katrin

American Journal Of Medical Genetics - A. Mar 01, 2014 164(3):806-809

Reinson, Karit ; Kovacs-Nagy, Reka ; Õiglane-Shlik, Eve ; Pajusalu, Sander ; Nõukas, Margit ; Wintjes, Liesbeth T. ; van den Brandt, Frans C.A. ; Brink, Maaike ; Acker, Till ; Ahting, Uwe ; Hahn, Andreas ; Schänzer, Anne ; Haack, Tobias B. ; Rodenburg, Richard J. ; Õunap, Katrin

In European Journal of Medical Genetics November 2019 62(11)

Puusepp, Sanna ; Reinson, Karit ; Pajusalu, Sander ; Murumets, Ülle ; Õiglane-Shlik, Eve ; Rein, Reet ; Talvik, Inga ; Rodenburg, Richard J. ; Õunap, Katrin

In Molecular Genetics and Metabolism Reports June 2018 15:80-89

Õiglane-Shlik, Eve ; Puusepp, Sanna ; Talvik, Inga ; Vaher, Ulvi ; Rein, Reet ; Tammur, Pille ; Reimand, Tiia ; Teek, Rita ; Žilina, Olga ; Tomberg, Tiiu ; Õunap, Katrin

In European Journal of Paediatric Neurology May 2014 18(3):338-346

Õunap K; From the The Institute of Clinical Medicine (K.Õ., T.R., E.Õ.-S., L.M., S. Pajusalu), Faculty of Medicine, University of Tartu; Genetics and Personalized Medicine Clinic (K.Õ., T.R., L.M., Sander Pajusalu); Children's Clinic (E.O.-S.); Pathology Department (S. Puusepp), Tartu University Hospital, Estonia; Folkhalsan Research Center (M.S., B.U.), Helsinki; and Tampere Neuromuscular Center (B.U.), Tampere, Finland.; Reimand T; From the The Institute of Clinical Medicine (K.Õ., T.R., E.Õ.-S., L.M., S. Pajusalu), Faculty of Medicine, University of Tartu; Genetics and Personalized Medicine Clinic (K.Õ., T.R., L.M., Sander Pajusalu); Children's Clinic (E.O.-S.); Pathology Department (S. Puusepp), Tartu University Hospital, Estonia; Folkhalsan Research Center (M.S., B.U.), Helsinki; and Tampere Neuromuscular Center (B.U.), Tampere, Finland.; Õiglane-Shlik E; From the The Institute of Clinical Medicine (K.Õ., T.R., E.Õ.-S., L.M., S. Pajusalu), Faculty of Medicine, University of Tartu; Genetics and Personalized Medicine Clinic (K.Õ., T.R., L.M., Sander Pajusalu); Children's Clinic (E.O.-S.); Pathology Department (S. Puusepp), Tartu University Hospital, Estonia; Folkhalsan Research Center (M.S., B.U.), Helsinki; and Tampere Neuromuscular Center (B.U.), Tampere, Finland.; Puusepp S; From the The Institute of Clinical Medicine (K.Õ., T.R., E.Õ.-S., L.M., S. Pajusalu), Faculty of Medicine, University of Tartu; Genetics and Personalized Medicine Clinic (K.Õ., T.R., L.M., Sander Pajusalu); Children's Clinic (E.O.-S.); Pathology Department (S. Puusepp), Tartu University Hospital, Estonia; Folkhalsan Research Center (M.S., B.U.), Helsinki; and Tampere Neuromuscular Center (B.U.), Tampere, Finland.; Mihkla L; From the The Institute of Clinical Medicine (K.Õ., T.R., E.Õ.-S., L.M., S. Pajusalu), Faculty of Medicine, University of Tartu; Genetics and Personalized Medicine Clinic (K.Õ., T.R., L.M., Sander Pajusalu); Children's Clinic (E.O.-S.); Pathology Department (S. Puusepp), Tartu University Hospital, Estonia; Folkhalsan Research Center (M.S., B.U.), Helsinki; and Tampere Neuromuscular Center (B.U.), Tampere, Finland.; Pajusalu S; From the The Institute of Clinical Medicine (K.Õ., T.R., E.Õ.-S., L.M., S. Pajusalu), Faculty of Medicine, University of Tartu; Genetics and Personalized Medicine Clinic (K.Õ., T.R., L.M., Sander Pajusalu); Children's Clinic (E.O.-S.); Pathology Department (S. Puusepp), Tartu University Hospital, Estonia; Folkhalsan Research Center (M.S., B.U.), Helsinki; and Tampere Neuromuscular Center (B.U.), Tampere, Finland.; Savarese M; From the The Institute of Clinical Medicine (K.Õ., T.R., E.Õ.-S., L.M., S. Pajusalu), Faculty of Medicine, University of Tartu; Genetics and Personalized Medicine Clinic (K.Õ., T.R., L.M., Sander Pajusalu); Children's Clinic (E.O.-S.); Pathology Department (S. Puusepp), Tartu University Hospital, Estonia; Folkhalsan Research Center (M.S., B.U.), Helsinki; and Tampere Neuromuscular Center (B.U.), Tampere, Finland.; Udd B; From the The Institute of Clinical Medicine (K.Õ., T.R., E.Õ.-S., L.M., S. Pajusalu), Faculty of Medicine, University of Tartu; Genetics and Personalized Medicine Clinic (K.Õ., T.R., L.M., Sander Pajusalu); Children's Clinic (E.O.-S.); Pathology Department (S. Puusepp), Tartu University Hospital, Estonia; Folkhalsan Research Center (M.S., B.U.), Helsinki; and Tampere Neuromuscular Center (B.U.), Tampere, Finland.

Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE

Sarv S; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Kahre T; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Vaidla E; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Pajusalu S; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Muru K; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Põder H; Tallinn Children's Hospital, Tallinn, Estonia.; Gross-Paju K; Centre for Neurological Diseases, West-Tallinn Central Hospital, Tallinn, Estonia.; Department of Health Technologies, eMed Lab, TalTech, Tallinn, Estonia.; Ütt S; Centre for Neurological Diseases, West-Tallinn Central Hospital, Tallinn, Estonia.; Žordania R; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Talvik I; Tallinn Children's Hospital, Tallinn, Estonia.; Õiglane-Shlik E; Children's Clinic, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Children's Clinic, Tartu University Hospital, Tartu, Estonia.; Muhu K; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Õunap K; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Veri K; 1 Department of Pediatrics, University of Tartu, Tartu, Estonia.; 2 Tallinn Children's Hospital, Tallinn, Estonia.; Talvik I; 1 Department of Pediatrics, University of Tartu, Tartu, Estonia.; 2 Tallinn Children's Hospital, Tallinn, Estonia.; 3 Children's Clinic, Tartu University Hospital, Tartu, Estonia.; Vaher U; 3 Children's Clinic, Tartu University Hospital, Tartu, Estonia.; Napa A; 3 Children's Clinic, Tartu University Hospital, Tartu, Estonia.; Ilves P; 4 Department of Radiology, Radiology Clinic, Tartu University Hospital, Tartu, Estonia.; Uibo O; 1 Department of Pediatrics, University of Tartu, Tartu, Estonia.; 3 Children's Clinic, Tartu University Hospital, Tartu, Estonia.; Õiglane-Shlik E; 1 Department of Pediatrics, University of Tartu, Tartu, Estonia.; 3 Children's Clinic, Tartu University Hospital, Tartu, Estonia.; Laugesaar R; 1 Department of Pediatrics, University of Tartu, Tartu, Estonia.; 3 Children's Clinic, Tartu University Hospital, Tartu, Estonia.; Rein R; 3 Children's Clinic, Tartu University Hospital, Tartu, Estonia.; Kolk A; 1 Department of Pediatrics, University of Tartu, Tartu, Estonia.; 3 Children's Clinic, Tartu University Hospital, Tartu, Estonia.; Noormets K; 3 Children's Clinic, Tartu University Hospital, Tartu, Estonia.; Reimand T; 1 Department of Pediatrics, University of Tartu, Tartu, Estonia.; 5 Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; 6 Institute of Biomedicine and Translational Medicine, Department of Biomedicine, University of Tartu, Tartu, Estonia.; Õunap K; 1 Department of Pediatrics, University of Tartu, Tartu, Estonia.; 5 Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Talvik T; 1 Department of Pediatrics, University of Tartu, Tartu, Estonia.; 3 Children's Clinic, Tartu University Hospital, Tartu, Estonia.; 7 Clinical Ethics Committee of Tartu University Hospital, Tartu, Estonia.

Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE

Laugesaar R; Department of Pediatrics Institute of Clinical Medicine University of Tartu Tartu Estonia.; Children's Clinic of Tartu University Hospital Tartu Estonia.; Vaher U; Children's Clinic of Tartu University Hospital Tartu Estonia.; Lõo S; Department of Pediatrics Institute of Clinical Medicine University of Tartu Tartu Estonia.; Children's Hospital Pediatric Research Centre University of Helsinki Helsinki Finland.; Helsinki University Hospital Helsinki Finland.; Kolk A; Department of Pediatrics Institute of Clinical Medicine University of Tartu Tartu Estonia.; Children's Clinic of Tartu University Hospital Tartu Estonia.; Männamaa M; Department of Pediatrics Institute of Clinical Medicine University of Tartu Tartu Estonia.; Children's Clinic of Tartu University Hospital Tartu Estonia.; Institute of Psychology University of Tallinn Tallinn Estonia.; Talvik I; Department of Neurology and Rehabilitation Tallinn Children's Hospital Tallinn Estonia.; Õiglane-Shlik E; Department of Pediatrics Institute of Clinical Medicine University of Tartu Tartu Estonia.; Children's Clinic of Tartu University Hospital Tartu Estonia.; Loorits D; Radiology Clinic of Tartu University Hospital Tartu Estonia.; Talvik T; Department of Pediatrics Institute of Clinical Medicine University of Tartu Tartu Estonia.; Children's Clinic of Tartu University Hospital Tartu Estonia.; Ilves P; Radiology Clinic of Tartu University Hospital Tartu Estonia.; Department of Radiology Institute of Clinical Medicine University of Tartu Tartu Estonia.

Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101692036 Publication Model: eCollection Cited Medium: Print ISSN: 2470-9239 (Print) Linking ISSN: 24709239 NLM ISO Abbreviation: Epilepsia Open Subsets: PubMed not MEDLINE

Puusepp, S. ; Reinson, K. ; Pajusalu, S. ; Oiglane-Shlik, E. ; Ilves, P. ; Wojcik, M. ; Ounap, K.

In Neuromuscular Disorders October 2019 29 Supplement 1:S202-S202

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

Vals MA; 1] Department of Paediatrics, University of Tartu, Tartu, Estonia [2] Children's Clinic, Tartu University Hospital, Tartu, Estonia [3] United Laboratories, Department of Genetics, Tartu University Hospital, Tartu, Estonia.; Õiglane-Shlik E; 1] Department of Paediatrics, University of Tartu, Tartu, Estonia [2] Children's Clinic, Tartu University Hospital, Tartu, Estonia.; Nõukas M; 1] Estonian Genome Center, University of Tartu, Tartu, Estonia [2] Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.; Shor R; Tallinn Children's Hospital, Tallinn, Estonia.; Peet A; 1] Department of Paediatrics, University of Tartu, Tartu, Estonia [2] Children's Clinic, Tartu University Hospital, Tartu, Estonia.; Kals M; Estonian Genome Center, University of Tartu, Tartu, Estonia.; Kivistik PA; Estonian Genome Center, University of Tartu, Tartu, Estonia.; Metspalu A; 1] Estonian Genome Center, University of Tartu, Tartu, Estonia [2] Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.; Õunap K; 1] Department of Paediatrics, University of Tartu, Tartu, Estonia [2] United Laboratories, Department of Genetics, Tartu University Hospital, Tartu, Estonia.

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

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

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Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Oiglane-Shlik, E; Zordania, R; Varendi, H; Antson, A; Magi, ML; Tasa, G; Bartsch, O; Talvik, T; Ounap, K

AMERICAN JOURNAL OF MEDICAL GENETICS PART A; JUN 1 2006, 140A 11, p1241-p1244, 4p.

Oiglane-Shlik, E; Tillmann, V; Talvik, T; Ounap, K

PEDIATRIC NEUROLOGY; JUL 2005, 33 1, p66-p69, 4p.

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

AMERICAN JOURNAL OF MEDICAL GENETICS PART A; NOV 1 2004, 130A 4, p415-p423, 9p.