부산대학교 도서관

Jacob, P; Lindelof, H; Rustad, CF; Sutton, VR; Moosa, S; Udupa, P; Hammarsjo, A; Bhavani, GS; Batkovskyte, D; Tveten, K; Dalal, A; Horemuzova, E; Nordgren, A; Tham, E; Shah, HT; Merckoll, E; Orellana, L; Nishimura, G; Girisha, KM; Grigelioniene, G

NPJ genomic medicine. 8(1):39

Rustad CF; Centre for Rare Disorders, Oslo University Hospital, Oslo, Norway.; Backe PH; Department of Microbiology, Oslo University Hospital HF, Rikshospitalet, Oslo, Norway.; Department of Medical Biochemistry, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.; Jin C; Proteomics Core Facility at Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Merckoll E; Unilabs Radiology Norway, Oslo, Norway.; Tveten K; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.; Maciej-Hulme ML; Department of Life Sciences and Health, Oslo Metropolitan University, Oslo, Norway.; Karlsson N; Department of Life Sciences and Health, Oslo Metropolitan University, Oslo, Norway.; Department of Medical Biochemistry and Cell Biology, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Prescott T; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.; Sand ES; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.; Woldseth B; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.; Elgstøen KBP; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.; Holla ØL; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.

Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

N. Riise; B. R. Lindberg; M. A. Kulseth; S. O. Fredwall; R. Lundby; M.-E. Estensen; L. Drolsum; E. Merckoll; K. Krohg-Sørensen; B. Paus

BMC Medical Genetics, Vol 19, Iss 1, Pp 1-7 (2018)

Wang, Z; Iida, A; Miyake, N; Nishiguchi, KM; Fujita, K; Nakazawa, T; Alswaid, A; Albalwi, MA; Kim, OH; Cho, TJ; Lim, GY; Isidor, B; David, A; Rustad, CF; Merckoll, E; Westvik, J; Stattin, EL; Grigelioniene, G; Kou, I; Nakajima, M; Ohashi, H; Smithson, S; Matsumoto, N; Nishimura, G; Ikegawa, S

PloS one. 11(3):e0150555

Riise, N.; Lindberg, B. R.; Kulseth, M. A.; Fredwall, S. O.; Lundby, R.; Estensen, M.-E.; Drolsum, L.; Merckoll, E.; Krohg-Sørensen, K.; Paus, B.

BMC Medical Genetics. 19(1)

Huhnstock, S.; Wiig, O.; Merckoll, E.; Svenningsen, S.; Terjesen, T.

BONE & JOINT JOURNAL; DEC 2021, 103B 12, p1815-p1820, 6p.

Rustad CF; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.; Prescott TE; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.; Merckoll E; Department of Radiology, Oslo University Hospital, Oslo, Norway.; Kristensen E; Norwegian National Unit for Diagnostics of Congenital Metabolic Disorders, Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.; Salvador CL; Norwegian National Unit for Diagnostics of Congenital Metabolic Disorders, Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.; Nordgarden H; TAKO-centre (National Resource Centre for Oral health in Rare Disorders), Lovisenberg Diaconal Hospital, Oslo, Norway.; Tveten K; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.

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

Rustad CF; Tveten K; Braathen GJ; Merckoll E; Kirkhus E; Fossmo HL; Ørstavik K

Publisher: Norske Laegeforening Country of Publication: Norway NLM ID: 0413423 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 0807-7096 (Electronic) Linking ISSN: 00292001 NLM ISO Abbreviation: Tidsskr Nor Laegeforen Subsets: PubMed not MEDLINE; MEDLINE

Rustad CF; Tveten K; Braathen GJ; Merckoll E; Kirkhus E; Fossmo HL; Ørstavik K

Publisher: Norske Laegeforening Country of Publication: Norway NLM ID: 0413423 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 0807-7096 (Electronic) Linking ISSN: 00292001 NLM ISO Abbreviation: Tidsskr Nor Laegeforen Subsets: MEDLINE

Voisin N; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland.; Schnur RE; GeneDx, Gaithersburg, MD 20877, USA; Cooper Medical School of Rowan University, Division of Genetics, Camden, NJ 08103, USA.; Douzgou S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester M13 9NT, UK.; Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.; Rustad CF; Department of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway.; Brown NJ; Victorian Clinical Genetics Services, Flemington Road, Parkville, VIC 3052, Australia; Murdoch Children's Research Institute, Flemington Road, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, VIC 3052, Australia.; Earl DL; Seattle Children's, Seattle, WA 98105, USA.; Keren B; Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique - Hôpitaux de Paris, Groupe de Recherche Clinique Déficience Intellectuelle et Autisme UPMC, Paris 75013, France.; Levchenko O; Research Centre for Medical Genetics, Moscow 115522, Russia.; Geuer S; Max Planck Institute for Molecular Genetics, Berlin 14195, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin 10117, Germany.; Verheyen S; Institute of Human Genetics, Diagnostic and Research Center for Molecular Biomedicine, Medical University of Graz, 8010 Graz, Austria.; Johnson D; Sheffield Clinical Genetics Service, Sheffield S10 2TQ, UK.; Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR 72701, USA.; Hančárová M; Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic.; Amor DJ; Murdoch Children's Research Institute, Flemington Road, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, VIC 3052, Australia.; Bebin EM; Department of Neurology, University of Alabama at Birmingham, Birmingham, AL 35294, USA.; Blatterer J; Institute of Human Genetics, Diagnostic and Research Center for Molecular Biomedicine, Medical University of Graz, 8010 Graz, Austria.; Brusco A; Department of Medical Sciences, University of Torino, Torino 10126, Italy; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Torino 10126, Italy.; Cappuccio G; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples 80131, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples 80078, Italy.; Charrow J; Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.; Chatron N; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland; Genetics Department, Lyon University Hospital, Lyon 69007, France.; Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.; Courtin T; Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique - Hôpitaux de Paris, Groupe de Recherche Clinique Déficience Intellectuelle et Autisme UPMC, Paris 75013, France.; Dadali E; Research Centre for Medical Genetics, Moscow 115522, Russia.; Delafontaine J; Swiss Institute of Bioinformatics, Lausanne 1015, Switzerland.; Del Giudice E; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples 80131, Italy.; Doco M; Secteur Génétique, CHU Reims, EA3801, SFR CAPSANTE, 51092 Reims, France.; Douglas G; GeneDx, Gaithersburg, MD 20877, USA.; Eisenkölbl A; Department of Pediatrics and Adolescent Medicine, Johannes Kepler University, Kepler University Hospital Linz, Krankenhausstraße 26-30, 4020 Linz, Austria.; Funari T; GeneDx, Gaithersburg, MD 20877, USA.; Giannuzzi G; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland.; Gruber-Sedlmayr U; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, 8036 Graz, Austria.; Guex N; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland; Bioinformatics Competence Center, University of Lausanne, Lausanne 1015, Switzerland.; Heron D; Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique - Hôpitaux de Paris, Groupe de Recherche Clinique Déficience Intellectuelle et Autisme UPMC, Paris 75013, France.; Holla ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.; Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35233, USA.; Juusola J; GeneDx, Gaithersburg, MD 20877, USA.; Kronn D; New York Medical College, Valhalla, NY 10595, USA.; Lavrov A; Research Centre for Medical Genetics, Moscow 115522, Russia.; Lee C; Victorian Clinical Genetics Services, Flemington Road, Parkville, VIC 3052, Australia.; Lorrain S; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland; Protein Analysis Facility, University of Lausanne, Lausanne 1015, Switzerland.; Merckoll E; Department of Radiology, Oslo University Hospital, 0424 Oslo, Norway.; Mikhaleva A; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland.; Norman J; Integris Pediatric Neurology, Oklahoma City, OK 73112, USA.; Pradervand S; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste 34100, Italy.; Prchalová D; Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic.; Rhodes L; GeneDx, Gaithersburg, MD 20877, USA.; Sanders VR; Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.; Sedláček Z; Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic.; Seebacher HA; Institute of Human Genetics, Diagnostic and Research Center for Molecular Biomedicine, Medical University of Graz, 8010 Graz, Austria.; Sellars EA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR 72701, USA.; Sirchia F; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste 34100, Italy.; Takenouchi T; Center for Medical Genetics, Department of Pediatrics, Keio University School of Medicine, Tokyo 1608582, Japan.; Tanaka AJ; Department of Pediatrics, Columbia University, New York, NY 10032, USA; Department of Medicine, Columbia University, New York, NY 10032, USA.; Taska-Tench H; Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.; Tønne E; Department of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway.; Tveten K; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.; Vitiello G; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples 80131, Italy.; Vlčková M; Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic.; Uehara T; Center for Medical Genetics, Department of Pediatrics, Keio University School of Medicine, Tokyo 1608582, Japan.; Nava C; Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique - Hôpitaux de Paris, Groupe de Recherche Clinique Déficience Intellectuelle et Autisme UPMC, Paris 75013, France.; Yalcin B; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67404, France.; Kosaki K; Center for Medical Genetics, Department of Pediatrics, Keio University School of Medicine, Tokyo 1608582, Japan.; Donnai D; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester M13 9NT, UK.; Mundlos S; Max Planck Institute for Molecular Genetics, Berlin 14195, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin 10117, Germany.; Brunetti-Pierri N; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples 80131, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples 80078, Italy.; Chung WK; Department of Pediatrics, Columbia University, New York, NY 10032, USA; Department of Medicine, Columbia University, New York, NY 10032, USA.; Reymond A; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland. Electronic address: alexandre.reymond@unil.ch.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE