학술논문
'학술논문'
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1~10
Electronic Resource
Electronic Resource
Bakhshalizadeh, S; Hock, DHH; Siddall, NAA; Kline, BLL; Sreenivasan, R; Bell, KMM; Casagranda, F; Kamalanathan, S; Sahoo, J; Narayanan, N; Naik, D; Suryadevara, V; Compton, AGG; Amarasekera, SSC; Kapoor, R; Jaillard, S; Simpson, A; Robevska, G; van den Bergen, J; Pachernegg, S; Ayers, KLL; Thorburn, DRR; Stroud, DAA; Hime, GRR; Sinclair, AHH; Tucker, EJJ
Electronic Resource
Frazier, AE; Compton, AG; Kishita, Y; Hock, DH; Welch, AE; Amarasekera, SSC; Rius, R; Formosa, LE; Imai-Okazaki, A; Francis, D; Wang, M; Lake, NJ; Tregoning, S; Jabbari, JS; Lucattini, A; Nitta, KR; Ohtake, A; Murayama, K; Amor, DJ; McGillivray, G; Wong, FY; van der Knaap, MS; Vermeulen, RJ; Wiltshire, EJ; Fletcher, JM; Lewis, B; Baynam, G; Ellaway, C; Balasubramaniam, S; Bhattacharya, K; Freckmann, M-L; Arbuckle, S; Rodriguez, M; Taft, RJ; Sadedin, S; Cowley, MJ; Minoche, AE; Calvo, SE; Mootha, VK; Ryan, MT; Okazaki, Y; Stroud, DA; Simons, C; Christodoulou, J; Thorburn, DR
Academic Journal
Amarasekera SSC; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia.; Hock DH; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC 3010, Australia.; Lake NJ; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Genetics, Yale School of Medicine, New Haven, CT 06510 USA.; Calvo SE; Broad Institute, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA 02446, USA.; Grønborg SW; Department of Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen 2100, Denmark.; Center for Inherited Metabolic Disease, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen 2100, Denmark.; Krzesinski EI; Monash Genetics, Monash Health, Melbourne, VIC 3168 Australia.; Department of Paediatrics, Monash University, Melbourne, VIC 3168 Australia.; Amor DJ; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia.; Fahey MC; Monash Genetics, Monash Health, Melbourne, VIC 3168 Australia.; Department of Paediatrics, Monash University, Melbourne, VIC 3168 Australia.; Simons C; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Wibrand F; Department of Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen 2100, Denmark.; Mootha VK; Broad Institute, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA 02446, USA.; Lek M; Department of Genetics, Yale School of Medicine, New Haven, CT 06510 USA.; Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia.; Department of Pathology, University of Melbourne, Melbourne, VIC 3010, Australia.; Stark Z; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia.; Østergaard E; Department of Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen 2100, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen 2200, Denmark.; Christodoulou J; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia.; Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW 2006, Australia.; Thorburn DR; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia.; Stroud DA; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC 3010, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Compton AG; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
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
Academic Journal
Bakhshalizadeh S; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Hock DH; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, Australia.; Siddall NA; Department of Anatomy and Physiology, University of Melbourne, Parkville, Australia.; Kline BL; Murdoch Children's Research Institute, Melbourne, Australia.; Sreenivasan R; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Bell KM; Department of Bioinformatics, Murdoch Children's Research Institute, Melbourne, Australia.; Casagranda F; Department of Anatomy and Physiology, University of Melbourne, Parkville, Australia.; Kamalanathan S; Department of Endocrinology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, 605006, India.; Sahoo J; Department of Endocrinology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, 605006, India.; Narayanan N; Department of Endocrinology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, 605006, India.; Naik D; Department of Endocrinology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, 605006, India.; Suryadevara V; Department of Endocrinology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, 605006, India.; Compton AG; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Australia.; Amarasekera SSC; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Kapoor R; Department of Anatomy and Physiology, University of Melbourne, Parkville, Australia.; Jaillard S; Univ Rennes, CHU Rennes, INSERM, EHESP, IRSET (Institut de Recherche en Santé, Environnement et Travail) - UMR_S 1085, 35000, Rennes, France.; CHU Rennes, Service de Cytogénétique et Biologie Cellulaire, 35033, Rennes, France.; Simpson A; School of Allied Health, College of Science, Health and Engineering, La Trobe University, Bundoora, VIC, Australia.; College of Health and Human Services, Charles Darwin University, Darwin, NT, Australia.; Robevska G; Murdoch Children's Research Institute, Melbourne, Australia.; van den Bergen J; Murdoch Children's Research Institute, Melbourne, Australia.; Pachernegg S; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Ayers KL; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Thorburn DR; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Australia.; Stroud DA; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Australia.; Hime GR; Department of Anatomy and Physiology, University of Melbourne, Parkville, Australia. g.hime@unimelb.edu.au.; Sinclair AH; Murdoch Children's Research Institute, Melbourne, Australia. andrew.sinclair@mcri.edu.au.; Department of Paediatrics, University of Melbourne, Melbourne, Australia. andrew.sinclair@mcri.edu.au.; Tucker EJ; Murdoch Children's Research Institute, Melbourne, Australia. elena.tucker@mcri.edu.au.; Department of Paediatrics, University of Melbourne, Melbourne, Australia. elena.tucker@mcri.edu.au.
Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
Academic Journal
Frazier AE; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; These authors contributed equally: A.E. Frazier, A.G. Compton.; Compton AG; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; These authors contributed equally: A.E. Frazier, A.G. Compton.; Kishita Y; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, 113-8421, Japan.; Hock DH; Department of Biochemistry and Molecular Biology and Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Melbourne, VIC 3052, Australia.; Welch AE; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Amarasekera SSC; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; Rius R; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; Formosa LE; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, VIC 3800, Australia.; Imai-Okazaki A; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, 113-8421, Japan.; Division of Genomic Medicine Research, Medical Genomics Center, National Center for Global Health and Medicine, Tokyo 162-8655, Japan.; Francis D; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Wang M; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Lake NJ; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; Department of Genetics, Yale School of Medicine, New Haven, CT 06510, USA.; Tregoning S; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Jabbari JS; Australian Genome Research Facility Ltd, Victorian Comprehensive Cancer Centre, Melbourne VIC 3052, Australia.; Lucattini A; Australian Genome Research Facility Ltd, Victorian Comprehensive Cancer Centre, Melbourne VIC 3052, Australia.; Nitta KR; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, 113-8421, Japan.; Ohtake A; Department of Pediatrics & Clinical Genomics, Saitama Medical University Hospital, Saitama, 350-0495, Japan.; Murayama K; Department of Metabolism, Chiba Children's Hospital, Chiba, 266-0007, Japan.; Amor DJ; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; McGillivray G; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Wong FY; Ritchie Centre, Hudson Institute of Medical Research; Department of Paediatrics, Monash University; and Monash Newborn, Monash Children's Hospital, Melbourne, VIC 3168, Australia.; van der Knaap MS; Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands.; Functional Genomics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit and Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands.; Jeroen Vermeulen R; Department of Neurology, Maastricht University Medical Center, 6229 HX, Maastricht, The Netherlands.; Wiltshire EJ; Department of Paediatrics and Child Health, University of Otago Wellington and Capital and Coast District Health Board, Wellington 6021, New Zealand.; Fletcher JM; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia.; Lewis B; Department of Clinical Biochemistry, PathWest Laboratory Medicine Western Australia, Nedlands, WA 6009, Australia.; Baynam G; Western Australian Register of Developmental Anomalies and Genetic Services of Western Australia and King Edward Memorial Hospital for Women Perth, Subiaco, WA 6008, Australia.; Telethon Kids Institute and School of Paediatrics and Child Health, The University of Western Australia, Perth, WA 6009, Australia.; Ellaway C; Genetic Metabolic Disorders Service, Sydney Children's Hospital Network, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.; Disciplines of Genomic Medicine and Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW 2145, Australia.; Balasubramaniam S; Genetic Metabolic Disorders Service, Sydney Children's Hospital Network, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.; Bhattacharya K; Genetic Metabolic Disorders Service, Sydney Children's Hospital Network, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.; Disciplines of Genomic Medicine and Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW 2145, Australia.; Freckmann ML; Clinical Genetics, The Canberra Hospital, Garran, ACT 2605, Australia.; Arbuckle S; Department of Histopathology, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW 2145, Australia.; Rodriguez M; Discipline of Pathology, School of Medical Sciences, The University of Sydney, Sydney, NSW 2006, Australia.; Taft RJ; Illumina, Inc., San Diego, CA 92121, USA.; Sadedin S; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Cowley MJ; Children's Cancer Institute, Kensington, NSW 2750, Australia; St Vincent's Clinical School, UNSW Sydney, Darlinghurst, NSW 2010, Australia.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.; Minoche AE; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.; Calvo SE; Broad Institute, Cambridge, MA 02142, USA; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA; Harvard Medical School, Boston, MA 02446, USA.; Mootha VK; Broad Institute, Cambridge, MA 02142, USA; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA; Harvard Medical School, Boston, MA 02446, USA.; Ryan MT; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, VIC 3800, Australia.; Okazaki Y; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, 113-8421, Japan.; Stroud DA; Department of Biochemistry and Molecular Biology and Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Melbourne, VIC 3052, Australia.; Simons C; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD 4072 Australia.; Christodoulou J; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Disciplines of Genomic Medicine and Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW 2145, Australia.; Thorburn DR; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Lead contact.
Publisher: Cell Press Country of Publication: United States NLM ID: 101769215 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-6340 (Electronic) Linking ISSN: 26666340 NLM ISO Abbreviation: Med
Academic Journal
Abeyratne SAE; Amarasekera SSC; Ranaweera LT; Salpadoru TB; Thilakarathne SMNK; Knowles NJ; Wadsworth J; Puvanendiran S; Kothalawala H; Jayathilake BK; Wijithasiri HA; Chandrasena MMPSK; Sooriyapathirana SDSS
Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: PubMed not MEDLINE
Academic Journal
Abeyratne SAE; Animal Virus Laboratory, Veterinary Research Institute, Polgolla, Kandy, Sri Lanka.; Postgraduate Institute of Science, University of Peradeniya, Peradeniya, Sri Lanka.; Amarasekera SSC; Department of Molecular Biology and Biotechnology, Faculty of Science, University of Peradeniya, Peradeniya, Sri Lanka.; Ranaweera LT; Department of Molecular Biology and Biotechnology, Faculty of Science, University of Peradeniya, Peradeniya, Sri Lanka.; Salpadoru TB; Department of Molecular Biology and Biotechnology, Faculty of Science, University of Peradeniya, Peradeniya, Sri Lanka.; Thilakarathne SMNK; Department of Molecular Biology and Biotechnology, Faculty of Science, University of Peradeniya, Peradeniya, Sri Lanka.; Knowles NJ; The Pirbright Institute, Pirbright, Woking, Surrey, United Kingdom.; Wadsworth J; The Pirbright Institute, Pirbright, Woking, Surrey, United Kingdom.; Puvanendiran S; Animal Virus Laboratory, Veterinary Research Institute, Polgolla, Kandy, Sri Lanka.; Kothalawala H; Animal Virus Laboratory, Veterinary Research Institute, Polgolla, Kandy, Sri Lanka.; Jayathilake BK; Animal Virus Laboratory, Veterinary Research Institute, Polgolla, Kandy, Sri Lanka.; Wijithasiri HA; Animal Virus Laboratory, Veterinary Research Institute, Polgolla, Kandy, Sri Lanka.; Chandrasena MMPSK; Animal Virus Laboratory, Veterinary Research Institute, Polgolla, Kandy, Sri Lanka.; Sooriyapathirana SDSS; Postgraduate Institute of Science, University of Peradeniya, Peradeniya, Sri Lanka.; Department of Molecular Biology and Biotechnology, Faculty of Science, University of Peradeniya, Peradeniya, Sri Lanka.
Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE
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