학술논문
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'학술논문'
에서 검색결과 1,227건 | 목록
1~20
Academic Journal
Savarirayan, R; Ireland, P; Irving, M; Thompson, D; Alves, I; Baratela, WAR; Betts, J; Bober, MB; Boero, S; Briddell, J
NATURE REVIEWS ENDOCRINOLOGY. 18(3):173-189
Academic Journal
Qi, Y; Chan, ML; Mould, DR; Larimore, K; Fisheleva, E; Cherukuri, A; Day, J; Savarirayan, R; Irving, M; Bacino, CA; Hoover-Fong, J; Ozono, K; Mohnike, K; Wilcox, WR; Bober, MB; Henshaw, J
Clin Pharmacokinet
Academic Journal
Flöttmann, R.; Wagner, J.; Kobus, K.; Curry, C.; Savarirayan, R.; Nishimura, G.; Yasui, N.; Spranger, J.; Van Esch, H.; Lyons, M.; DuPont, B.; Dwivedi, A.; Klopocki, E.; Horn, D.; Mundlos, S.; Spielmann, M.
Journal of Medical Genetics
Academic Journal
Savarirayan R; Skeletal Biology, Murdoch Children's Research Institute, Parkville, Melbourne, Australia.; Royal Children's Hospital, Parkville, Melbourne, Australia.; Department of Pediatrics, University of Melbourne, Parkville, Melbourne, Australia.; McDonnell C; Paediatric Endocrinology and Diabetes, Children's Health Ireland at Temple Street, Dublin, Ireland.; Paediatric Endocrinology, University of Dublin, Trinity College, Dublin, Ireland.; Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Hoernschemeyer DG; Pediatric Intensive Care Unit, University of Missouri Children's Hospital, Columbia.; Legare JM; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison.; Abuzzahab MJ; McNeely Pediatric Diabetes Center and Endocrine Clinic, Children's Minnesota, Minneapolis.; Hofman PL; Clinical Research Unit, The Liggins Institute, University of Auckland, Auckland, New Zealand.; Campeau PM; Department de Pediatrie, Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, Quebec, Canada.; de Bergua Domingo JM; Department of Orthopedics, Unidad de Cirugía Artroscópica, Vithas Vitoria Hospital, Vitoria-Gasteiz, Spain.; Ward LM; Pediatric Bone Health, University of Ottawa, Ottawa, Ontario, Canada.; Paediatric Orthopaedic Surgery, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Smit K; Pediatric Bone Health, University of Ottawa, Ottawa, Ontario, Canada.; Paediatric Orthopaedic Surgery, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Smith A; Endocrine Sciences, Ascendis Pharma, Palo Alto, California.; Mao M; Endocrine Sciences, Ascendis Pharma, Palo Alto, California.; Ominsky MS; Endocrine Sciences, Ascendis Pharma, Palo Alto, California.; Freiberg LC; Endocrine Sciences, Ascendis Pharma, Hellerup, Denmark.; Shu AD; Endocrine Sciences, Ascendis Pharma, Palo Alto, California.; Hove HB; Department of Clinical Genetics and Paediatrics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Publisher: American Medical Association Country of Publication: United States NLM ID: 101589544 Publication Model: Print Cited Medium: Internet ISSN: 2168-6211 (Electronic) Linking ISSN: 21686203 NLM ISO Abbreviation: JAMA Pediatr Subsets: MEDLINE
Academic Journal
Hoover-Fong JE; School of Medicine, Johns Hopkins University, 733 N. Broadway, Suite 579, Baltimore, MD, 21205, USA.; Savarirayan R; Murdoch Children's Research Institute, 59 Flemington Road, Parkville, Melbourne, VIC, Australia.; Alves I; ANDO Portugal, Av. D. Leonor Fernandes 46, 7005-144, Évora, Portugal.; Crews C; The Chandler Project, Little Rock, AR, 72207, USA.; Nemours Children's Hospital, Orlando, FL, USA.; Haider A; School of Medicine, Johns Hopkins University, 733 N. Broadway, Suite 579, Baltimore, MD, 21205, USA.; Growing Stronger, 440 N Wolfe Street, Sunnyvale, CA, 94085, USA.; Iruretagoyena SN; Fundación ALPE Achondroplasia, Calle Conde Real Agrado, 2, 33205, Gijón, Spain.; Grumet A; BridgeBio Pharma Inc., 1800 Owens St., San Francisco, CA, 94158, USA.; Colwell HH; Health Outcomes Solutions, 1149 Crystal Drive, Palm Beach Gardens, FL, 33418, USA.; Rogoff D; BridgeBio Pharma Inc., 1800 Owens St., San Francisco, CA, 94158, USA.; Muslimova E; BridgeBio Pharma Inc., 1800 Owens St., San Francisco, CA, 94158, USA.; Mathias SD; Health Outcomes Solutions, 1149 Crystal Drive, Palm Beach Gardens, FL, 33418, USA. smathias@healthoutcomessolutions.com.
Publisher: Health Communications Inc Country of Publication: United States NLM ID: 8611864 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1865-8652 (Electronic) Linking ISSN: 0741238X NLM ISO Abbreviation: Adv Ther Subsets: MEDLINE
Academic Journal
Billich N; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Ledang JK; Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, Nesodden, Norway.; Bredahl AM; Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, Nesodden, Norway.; Raj S; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Velvin G; Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, Nesodden, Norway.; Ireland PJ; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Queensland Children's Hospital, South Brisbane, Queensland, Australia.; Tuohy M; Royal Children's Hospital, Parkville, Victoria, Australia.; Fredwall SO; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, Nesodden, Norway.; Savarirayan R; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, Victoria, Australia.; Victorian Clinical Genetics Service, Parkville, Victoria, Australia.
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
Academic Journal
Alves I; ANDO Portugal, Évora, Portugal.; Comprehensive Health Research Centre (CHRC), Health and Sport Department, School of Health and Human Development, Évora University, Évora, Portugal.; Fredwall SO; National Centre for Rare Diseases, Sunnaas, Nesodden, Norway.; Hughes M; Biotech Industry Liaison Committee Chair, Little People of America, Sonoma, CA, USA.; Ireland PJ; School of Health and Rehabilitation Sciences, University of Queensland, Brisbane, Queensland, Australia. penny.ireland@health.qld.gov.au.; Queensland Children's Hospital, Brisbane, Queensland, Australia. penny.ireland@health.qld.gov.au.; Kaisermann MC; Growing Stronger, Saratoga, CA, USA.; Fundación ALPE Acondroplasia, Gijón, Spain.; Savarirayan R; Murdoch Children's Research Institute, Royal Children's Hospital Melbourne, University of Melbourne, Parkville, Victoria, Australia.
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
Academic Journal
McDonnell C; Discipline of Paediatrics, Children's Health Ireland at Temple Street, Dublin, Ireland.; Trinity College, University of Dublin, Dublin, Ireland.; Hove HB; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Irving M; Guy's and St Thomas' NHS Foundation Trust, Evelina Children's Hospital, London, UK.; White KK; Department of Pediatric Orthopedic Surgery, Children's Hospital Colorado, Aurora, Colorado, USA.; Fontecha CG; Orthopaedics and Traumatology Service, Hospital Sant Joan de Déu, Barcelona, Spain.; Legare JM; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.; Högler W; Department of Pediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria.; Hoernschemeyer DG; Pediatric Orthopedics, University of Missouri Children's Hospital, Columbia, Missouri, USA.; Schnabel D; Center for Chronically Sick Children, Charité - University Medicine Berlin, Berlin, Germany.; Unger S; Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland.; Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Hofman P; The Liggins Institute, University of Auckland, Auckland, New Zealand.; Yu Y; Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Ma H; Department of Pediatrics, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China.; Gong C; Department of Endocrine and Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, National Centre for Children's Health, Beijing, China.; Luo X; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.; Burrow TA; Department of Pediatrics, University of Arkansas for Medical Sciences College of Medicine, Little Rock, Arkansas, USA.; Baujat G; Service de Médecine Génomique des Maladies Rares Hôpital Universitaire Necker-Enfants Malades, Institut Imagine, Université Paris Cité, Paris, France.; Mora S; Department of Pediatrics, Laboratory of Pediatric Endocrinology, IRCCS Ospedale San Raffaele, Milan, Italy.; Fiscaletti M; CHU Sainte-Justine Azrieli Research Centre, University of Montreal, Montreal, Québec, Canada.; Zhao C; Ascendis Pharma Inc., Palo Alto, California, USA.; Makara MA; Ascendis Pharma Inc., Palo Alto, California, USA.; Shu AD; Ascendis Pharma Inc., Palo Alto, California, USA.; Savarirayan R; Skeletal Biology, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia, ravi.savarirayan@mcri.edu.au.; University of Melbourne, Parkville, Victoria, Australia, ravi.savarirayan@mcri.edu.au.
Publisher: Karger Country of Publication: Switzerland NLM ID: 101525157 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1663-2826 (Electronic) Linking ISSN: 16632818 NLM ISO Abbreviation: Horm Res Paediatr Subsets: MEDLINE
Academic Journal
Savarirayan R; Tofts L; Irving M; Wilcox W; Bacino CA; Hoover-Fong J; Rosendo Ullot Font; Harmatz P; Rutsch F; Bober MB; Polgreen LE; Ginebreda I; Mohnike K; Charrow J; Hoernschmeyer D; Ozono K; Alanay Y; Arundel P; Kagami S; Yasui N; White KK; Saal HM; Leiva-Gea A; Luna-González F; Mochizuki H; Basel D; Porco DM; Jayaram K; Fisheleva E; Huntsman-Labed A; Day J
Lancet
r -FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r -FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Fundació Sant Joan de Déu
instname
Academic Journal
Savarirayan R; Murdoch Children's Research Institute, Royal Children's Hospital Victoria, University of Melbourne, Parkville, Victoria, Australia. Electronic address: ravi.savarirayan@mcri.edu.au.; Irving M; Guy's and St Thomas' NHS Foundation Trust, Evelina Children's Hospital, London, United Kingdom.; Wilcox WR; Emory University, Atlanta, GA.; Bacino CA; Baylor College of Medicine, Houston, TX.; Hoover-Fong JE; Johns Hopkins University School of Medicine, Baltimore, MD.; Harmatz P; UCSF Benioff Children's Hospital Oakland, Oakland, CA.; Polgreen LE; Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA.; Mohnike K; Otto-von-Guericke Universität, Universitätskinderklinik, Magdeburg, Germany.; Prada CE; Division of Genetics, Genomics and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL.; Kubota T; Osaka University, Osaka, Japan.; Arundel P; Sheffield Children's NHS Foundation Trust, Sheffield Children's Hospital, Sheffield, United Kingdom.; Leiva-Gea A; Instituto de Investigación Biomédica de Málaga-Plataforma Bionand, Málaga, Andalucía, Spain; Hospital Universitario Virgen de la Victoria, Málaga, Spain.; Rowell R; BioMarin Pharmaceutical Inc., Novato, CA.; Low A; BioMarin (United Kingdom) Limited, London, United Kingdom.; Sabir I; BioMarin (United Kingdom) Limited, London, United Kingdom.; Huntsman-Labed A; BioMarin (United Kingdom) Limited, London, United Kingdom.; Day J; BioMarin (United Kingdom) Limited, London, United Kingdom.
Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Academic Journal
Buciek LH; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Pediatrics, Center for Rare Diseases, Rigshospitalet, Copenhagen, Denmark.; Jacobsen JR; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Pediatrics, Center for Rare Diseases, Rigshospitalet, Copenhagen, Denmark.; Raj S; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Adams AM; Respiratory and Sleep Medicine, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia.; Vandeleur M; Respiratory and Sleep Medicine, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia.; Hove HB; Department of Pediatrics, Center for Rare Diseases, Rigshospitalet, Copenhagen, Denmark.; Buchwald CV; Department of Otorhinolaryngology, Head and Neck Surgery, and Audiology, Rigshospitalet, Copenhagen, Denmark.; Kiaer EK; Department of Otorhinolaryngology, Head and Neck Surgery, and Audiology, Rigshospitalet, Copenhagen, Denmark.; Griffiths A; Respiratory and Sleep Medicine, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia.; Savarirayan R; Molecular Therapies, Murdoch Children's Research Institute, Parkville, Victoria, Australia ravi.savarirayan@mcri.edu.au.
Publisher: BMJ Pub. Group [etc.] Country of Publication: England NLM ID: 0372434 Publication Model: Electronic Cited Medium: Internet ISSN: 1468-2044 (Electronic) Linking ISSN: 00039888 NLM ISO Abbreviation: Arch Dis Child Subsets: MEDLINE
Academic Journal
Lee, E; Le, T; Zhu, Y; Elakis, G; Turner, A; Lo, W; Venselaar, H; Verrenkamp, CA; Snow, N; Mowat, D; Kirk, EP; Sachdev, R; Smith, J; Brown, NJ; Wallis, M; Barnett, C; McKenzie, F; Freckmann, ML; Collins, F; Chopra, M; Gregersen, N; Hayes, I; Rajagopalan, S; Tan, TY; Stark, Z; Savarirayan, R; Yeung, A; Adès, L; Gattas, M; Gibson, K; Gabbett, M; Amor, DJ; Lattanzi, W; Boyd, S; Haan, E; Gianoutsos, M; Cox, TC; Buckley, MF; Roscioli, T
Genetics in Medicine, 20, 9, pp. 1061-1068
Academic Journal
Savarirayan, R; Tofts, L; Irving, M; Wilcox, W; Bacino, C; Hoover-Fong, J; Font, RU; Harmatz, P; Rutsch, F; Carroll, R; Polgreen, L; Ginebreda, I; Mohnike, K; Charrow, J; Prada, C; Hoernschemeyer, D; Ozono, K; Kubota, T; Alanay, Y; Arundel, P; Kotani, Y; Yasui, N; White, K; Brandstetter, S; Saal, H; Leiva-Gea, A; Luna-González, F; Mochizuki, H; Tajima, A; Basel, D; Fisheleva, E; Rowell, R; Labed, AH; Day, J
Genetics in Medicine Open, Vol 2, Iss, Pp 101038-(2024)
Academic Journal
Taylor-Miller T; Victorian Clinical Genetics Service, Melbourne, Parkville, Victoria, Australia.; Savarirayan R; Victorian Clinical Genetics Service, Melbourne, Parkville, Victoria, Australia.; Molecular Therapies, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.
Publisher: Taylor & Francis Country of Publication: England NLM ID: 101278293 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-8417 (Electronic) Linking ISSN: 17446651 NLM ISO Abbreviation: Expert Rev Endocrinol Metab Subsets: MEDLINE
Academic Journal
Savarirayan, R; Wilcox, W; Harmatz, P; Phillips, J; Polgreen, L; Tofts, L; Ozono, K; Arundel, P; Irving, M; Bacino, C; Basel, D; Carroll, R; Charrow, J; Mochizuki, H; Kotani, Y; Saal, H; Han, L; Low, A; Fisheleva, E; Day, J
Genetics in Medicine Open, Vol 2, Iss, Pp 101028-(2024)
Academic Journal
Savarirayan, R; Tofts, L; Irving, M; Wilcox, W; Bacino, C; Hoover-Fong, J; Font, RU; Harmatz, P; Rutsch, F; Carroll, R; Polgreen, L; Ginebreda, I; Mohnike, K; Charrow, J; Prada, C; Hoernschemeyer, D; Ozono, K; Kubota, T; Alanay, Y; Arundel, P; Kotani, Y; Yasui, N; White, K; Brandstetter, S; Saal, H; Leiva-Gea, A; Luna-González, F; Mochizuki, H; Tajima, A; Basel, D; Fisheleva, E; Low, A; Lawrinson, S; Day, J
Genetics in Medicine Open, Vol 2, Iss, Pp 101036-(2024)
Academic Journal
Hoover-Fong, J; Irving, M; Bacino, C; Charrow, J; Prada, C; Cormier-Daire, V; Polgreen, L; Harmatz, P; Ghani, S; Fisheleva, E; Low, A; Day, J; Phillips, J; Savarirayan, R
Genetics in Medicine Open, Vol 2, Iss, Pp 101041-(2024)
Academic Journal
Prickett, TCR; Espiner, EA; Irving, M; Bacino, C; Phillips, JA; Savarirayan, R; Day, JRS; Fisheleva, E; Larimore, K; Chan, ML; Jeha, GS
Sci Rep
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Academic Journal
Bicknell LS; Department of Biochemistry, University of Otago, Dunedin, New Zealand. louise.bicknell@otago.ac.nz.; Hirschhorn JN; Division of Endocrinology, Boston Children's Hospital, Boston, MA, USA.; Departments of Paediatrics, Harvard Medical School, Boston, MA, USA.; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Departments of Genetics, Harvard Medical School, Boston, MA, USA.; Savarirayan R; Murdoch Children's Research Institute, Royal Children's Hospital and University of Melbourne, Parkville, Victoria, Australia. ravi.savarirayan@mcri.edu.au.
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 100962779 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1471-0064 (Electronic) Linking ISSN: 14710056 NLM ISO Abbreviation: Nat Rev Genet Subsets: MEDLINE
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