부산대학교 도서관

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

Karwacki-Neisius, V; Jang, A; Cukuroglu, E; Tai, A; Jiao, A; Predes, D; Yoon, J; Brookes, E; Chen, J; Iberg, A; Halbritter, F; Õunap, K; Gecz, J; Schlaeger, TM; Ho Sui, S; Göke, J; He, X; Lehtinen, MK; Pomeroy, SL; Shi, Y

Nature

Tooming M; Genetics and Personalized Medicine Clinic, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Mertsina P; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Kahre T; Genetics and Personalized Medicine Clinic, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Teek R; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Vainumäe I; Children's Clinic, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Children's Clinic, Tartu University Hospital, Tartu, Estonia.; Lilles S; Children's Clinic, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Children's Clinic, Tartu University Hospital, Tartu, Estonia.; Wojcik MH; Divisions of Newborn Medicine and Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.; Broad Center for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, United States.; Ilves P; Department of Radiology, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Radiology Clinic, Tartu University Hospital, Tartu, Estonia.; Õunap K; Genetics and Personalized Medicine Clinic, 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: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Planas-Serra, L; Rodríguez, M; Rodriguez-Palmero, A; Vélez-Santamaria, V; Schlüter, A; Verdura, E; Gereñu, G; Jiménez-Zúñiga, A; de Munaín, AL; Iñañez, A; Casas, J; Bech, JJ; De La Torre, C; Iascone, M; Tenconi, R; Maroofian, R; Karimiani, EG; Leal, S; Schrauwen, I; Öhman, S; Järvelä, I; Granvik, J; Reinson, K; Kurvinen, E; Ounap, K; Kalayci, T; Sharifi, S; Casasnovas, C; Anderson, E; Pandey, U; Pujol, A

European Journal of Human Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)

van de Kamp, J M; Betsalel, O T; Mercimek-Mahmutoglu, S; Abulhoul, L; Grünewald, S; Anselm, I; Azzouz, H; Bratkovic, D; de Brouwer, A; Hamel, B; Kleefstra, T; Yntema, H; Campistol, J; Vilaseca, M A; Cheillan, D; D’Hooghe, M; Diogo, L; Garcia, P; Valongo, C; Fonseca, M; Frints, S; Wilcken, B; von der Haar, S; Meijers-Heijboer, H E; Hofstede, F; Johnson, D; Kant, S G; Lion-Francois, L; Pitelet, G; Longo, N; Maat-Kievit, J A; Monteiro, J P; Munnich, A; Muntau, A C; Nassogne, M C; Osaka, H; Ounap, K; Pinard, J M; Quijano-Roy, S; Poggenburg, I; Poplawski, N; Abdul-Rahman, O; Ribes, A; Arias, A; Yaplito-Lee, J; Schulze, A; Schwartz, C E; Schwenger, S; Soares, G; Sznajer, Y; Valayannopoulos, V; Van Esch, H; Waltz, S; Wamelink, M M C; Pouwels, P J W; Errami, A; van der Knaap, M S; Jakobs, C; Mancini, G M; Salomons, G S

Journal of Medical Genetics. Jul 01, 2013 50(7):463-472

van Bon, B W M; Mefford, H C; Menten, B; Koolen, D A; Sharp, A J; Nillesen, W M; Innis, J W; de Ravel, T J L; Mercer, C L; Fichera, M; Stewart, H; Connell, L E; Õunap, K; Lachlan, K; Castle, B; Van der Aa, N; van Ravenswaaij, C; Nobrega, M A; Serra-Juhé, C; Simonic, I; de Leeuw, N; Pfundt, R; Bongers, E M; Baker, C; Finnemore, P; Huang, S; Maloney, V K; Crolla, J A; van Kalmthout, M; Elia, M; Vandeweyer, G; Fryns, J P; Janssens, S; Foulds, N; Reitano, S; Smith, K; Parkel, S; Loeys, B; Woods, C G; Oostra, A; Speleman, F; Pereira, A C; Kurg, A; Willatt, L; Knight, S J L; Vermeesch, J R; Romano, C; Barber, J C; Mortier, G; Pérez-Jurado, L A; Kooy, F; Brunner, H G; Eichler, E E; Kleefstra, T; de Vries, B B A

Journal of Medical Genetics. Aug 01, 2009 46(8):511-523

Bartholdi, D; Krajewska-Walasek, M; Õunap, K; Gaspar, H; Chrzanowska, K H; Ilyana, H; Kayserili, H; Lurie, I W; Schinzel, A; Baumer, A

Journal of Medical Genetics. Mar 01, 2009 46(3):192-197

Mauring L; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia; Eye Clinic, Tartu University Hospital, Tartu, Estonia. Electronic address: laura.mauring@kliinikum.ee.; Puusepp S; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Parik M; Eye Clinic, Tartu University Hospital, Tartu, Estonia.; Roomets E; Tallinn's Children's Hospital, Tallinn, Estonia.; Teek R; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Reimand T; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Pajusalu S; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Kaljurand K; Eye Clinic, Tartu University Hospital, Tartu, Estonia; Department of Eye Clinic, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Õunap K; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

Rubio-Gozalbo ME; Department of Pediatrics and Clinical Genetics, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, P. Debyelaan 25, P.O. Box 5800, 6202 AZ, Maastricht, The Netherlands. estela.rubio@mumc.nl.; Haskovic M; Department of Pediatrics and Clinical Genetics, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, P. Debyelaan 25, P.O. Box 5800, 6202 AZ, Maastricht, The Netherlands.; Bosch AM; Amsterdam UMC, University of Amsterdam, Pediatric Metabolic Diseases, Emma Children's Hospital, Amsterdam, Netherlands.; Burnyte B; Institute of Biomedical Sciences of the Faculty of Medicine of Vilnius University, Vilnius, Lithuania.; Coelho AI; Department of Pediatrics and Clinical Genetics, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, P. Debyelaan 25, P.O. Box 5800, 6202 AZ, Maastricht, The Netherlands.; Cassiman D; Metabolic Center, Department of Gastroenterology-Hepatology, Leuven University Hospitals and KU Leuven, Leuven, Belgium.; Couce ML; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, S. Neonatology, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, Spain.; Dawson C; Department of Endocrinology, Queen Elizabeth Hospital Birmingham, London, UK.; Demirbas D; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Derks T; Section of Metabolic Diseases, Beatrix Children's Hospital, and Groningen University Institute for Drug Exploration (GUIDE), University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Eyskens F; Antwerp University Hospital, Antwerp, Belgium.; Forga MT; Hospital Clinic Barcelona, Barcelona, Spain.; Grunewald S; Metabolic Medicine Department, Great Ormond Street Hospital, Institute for Child Health UCL, London, UK.; Häberle J; Division of Metabolism and Children's Research Center, University Children's Hospital, Zurich, Switzerland.; Hochuli M; Department of Endocrinology, Diabetes, and Clinical Nutrition, University Hospital Zurich, Zurich, Switzerland.; Hubert A; APHP, HUPS, Hôpital Antoine Béclère, Centre de Référence Maladies Héréditaires Hépatiques, Clamart, France.; Université Paris Sud-Paris Saclay, and INSERM U 1195, Paris, France.; Huidekoper HH; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC-Sophia Children's Hospital, Rotterdam, The Netherlands.; Janeiro P; Department of Pediatrics, Hospital Santa Maria, Centro Hospitalar Universitário Lisboa Norte EPE, Lisbon, Portugal.; Kotzka J; Institute for Clinical Biochemistry and Pathobiochemistry, German Diabetes Center, Leibniz Center for Diabetes Research at Heinrich Heine University, Düsseldorf, Germany.; Knerr I; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Temple Street, Dublin, Ireland.; Labrune P; APHP, HUPS, Hôpital Antoine Béclère, Centre de Référence Maladies Héréditaires Hépatiques, Clamart, France.; Université Paris Sud-Paris Saclay, and INSERM U 1195, Paris, France.; Landau YE; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Langendonk JG; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Möslinger D; Department for Pediatrics and Adolescent Medicine, Inborn Errors of Metabolism, Medical University of Vienna, Vienna, Austria.; Müller-Wieland D; Clinical Research Center, Department of Medicine I, University Hospital RWTH Aachen, Aachen, Germany.; Murphy E; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.; Õunap K; Department of Clinical Genetics, United Laboratories and Institute of Clinical Medicine, Tartu University Hospital, Tartu, Estonia.; Ramadza D; Department of Pediatrics, University Hospital Centre, Zagreb, Croatia.; Rivera IA; Research Institute for Medicines (iMed.ULisboa), and Department of Biochemistry and Human Biology, Faculty of Pharmacy, Universidade de Lisboa, Lisbon, Portugal.; Scholl-Buergi S; Universitätsklink für Pädiatrie, Tirol Kliniken GmbH, Innsbruck, Austria.; Stepien KM; Mark Holland Metabolic Unit, Adult Inherited Metabolic Disorders Department, Salford Royal NHS Foundation Trust, Salford, M6 8HD, UK.; Thijs A; Vrije Universiteit Amsterdam, Internal Medicine, Amsterdam UMC, Amsterdam, Netherlands.; Tran C; Center for Molecular Diseases, Division of Genetic Medicine, University Hospital Lausanne, Lausanne, Switzerland.; Vara R; Department of Paediatric Inherited Metabolic Disease, Evelina London Children's Hospital, London, UK.; Visser G; Department of Pediatrics, University Medical Centre Utrecht, Utrecht, The Netherlands.; Vos R; Department of Methodology and Statistics, CAPHRI School for Primary Care and Public Health, Faculty Health Medicine and Life Sciences, Maastricht, The Netherlands.; de Vries M; Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands.; Waisbren SE; Department of Pediatrics, Division of Genomics and Genetics, Harvard Medical School and Boston Children's Hospital, Boston, USA.; Welsink-Karssies MM; Amsterdam UMC, University of Amsterdam, Pediatric Metabolic Diseases, Emma Children's Hospital, Amsterdam, Netherlands.; Wortmann SB; University Children's Hospital, Parcelsus Medical University (PMU), Salzburg, Austria.; Gautschi M; Department of Pediatrics and Institute of Clinical Chemistry, Inselspital, University Hospital Bern, Bern, Switzerland.; Treacy EP; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; National Centre for Inherited Metabolic Disorders, Mater Misericordiae University Hospital, Dublin 7, Ireland.; Berry GT; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

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J Med Genet
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JOURNAL OF MEDICAL GENETICS

Walters, RG; Jacquemont, S; Valsesia, A; De Smith, AJ; Martinet, D; Andersson, J; Falchi, M; Chen, F; Andrieux, J; Lobbens, S; Delobel, B; Stutzmann, F; El-Sayed Moustafa, JS; Chevre, JC; Lecoeur, C; Vatin, V; Bouquillon, S; Buxton, JL; Boute, O; Holder-Espinasse, M; Cuisset, JM; Lemaitre, MP; Ambresin, AE; Brioschi, A; Gaillard, M; Giusti, V; Fellmann, F; Ferrarini, A; Hadjikhani, N; Campion, D; Guilmatre, A; Goldenberg, A; Calmels, N; Mandel, JL; Le Caignec, C; David, A; Isidor, B; Cordier, MP; Dupuis-Girod, S; Labalme, A; Sanlaville, D; Beri-Dexheimer, M; Jonveaux, P; Leheup, B; Ounap, K; Bochukova, EG; Henning, E; Keogh, J; Ellis, RJ; Macdermot, KD; Van Haelst, MM; Vincent-Delorme, C; Plessis, G; Touraine, R; Philippe, A; Malan, V; Mathieu-Dramard, M; Chiesa, J; Blaumeiser, B; Kooy, RF; Caiazzo, R; Pigeyre, M; Balkau, B; Sladek, R; Bergmann, S; Mooser, V; Waterworth, D; Reymond, A; Vollenweider, P; Waeber, G; Kurg, A; Palta, P; Esko, T; Metspalu, A; Nelis, M; Elliott, P; Hartikainen, AL; McCarthy, MI; Peltonen, L; Carlsson, L; Jacobson, P; Sjostrom, L; Huang, N; Hurles, ME; O'Rahilly, S; Farooqi, IS; Mannik, K; Jarvelin, MR; Pattou, F; Meyre, D; Walley, AJ; Coin, LJ; Blakemore, AI; Froguel, P; Beckmann, JS

Nature
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Bartholdi, D; Krajewska-Walasek, M; Ounap, K; Gaspar, H; Chrzanowska, K H; Ilyana, H; Kayserili, H; Lurie, I W; Schinzel, A; Baumer, A

Journal of Medical Genetics. 46:192-197

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.; 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.; Roomere H; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Murumets Ü; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Roht L; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Simenson K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Reimand 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.; Department of Biomedicine, Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia.; Õunap 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.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Pronicka, E; Ropacka-Lesiak, M; Trubicka, J; Pajdowska, M; Linke, M; Ostergaard, E; Saunders, C; Horsch, S; van Karnebeek, C; Yaplito-Lee, J; Distelmaier, F; Õunap, K; Rahman, S; Castelle, M; Kelleher, J; Baris, S; Iwanicka-Pronicka, K; Steward, CG; Ciara, E; Wortmann, SB; Additional individual contributors, .

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

Joost K; Department of Genetics, United Laboratories, Tartu, Estonia ; The Centre of Excellence for Translational Medicine, University of Tartu, Tartu, Estonia.; Rodenburg RJ; Piirsoo A; van den Heuvel L; Zordania R; Põder H; Talvik I; Kilk K; Soomets U; 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

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

Muru K; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Kalev I; Teek R; Sõnajalg M; Kuuse K; Reimand T; 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

Puusepp H; Department of Paediatrics, University of Tartu, 6 Lunini Street, Tartu 50406, Estonia. helenp@ut.ee; Kall K; Salomons GS; Talvik I; Männamaa M; Rein R; Jakobs C; Õunap K

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis 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.