학술논문


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'학술논문' 에서 검색결과 153건 | 목록 1~20
Academic Journal
Stepien KM; Northern Care Alliance NHS Foundation Trust, Salford, UK. karolina.stepien@nca.nhs.uk.; Burton BK; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Bober MB; Nemours/Alfred I. DuPont Hospital for Children, Wilmington, DE, USA.; Campeau PM; CHU Sainte-Justine Research Center, Montreal, Quebec, Canada.; Ellaway C; Sydney Children's Hospital Network, The Children's Hospital at Westmead, Westmead, Sydney, NSW, Australia.; Bhattacharya K; Sydney Children's Hospital Network, The Children's Hospital at Westmead, Westmead, Sydney, NSW, Australia.; Guffon N; Reference Centre of Inherited Metabolic Disease, Hospices Civils de Lyon, Lyon, France.; Hinds D; BioMarin Pharmaceutical Inc., Novato, CA, USA.; Hunt A; BioMarin Pharmaceutical Inc., Novato, CA, USA.; Lail A; BioMarin Pharmaceutical Inc., Novato, CA, USA.; Lin SP; MacKay Children's Hospital, Taipei, Taiwan.; Magner M; Department of Pediatrics and Inherited Metabolic Disorders, General University Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic.; Murphy E; National Hospital for Neurology and Neurosurgery, London, UK.; Reisewitz P; BioMarin Pharmaceutical Inc., Novato, CA, USA.; Mitchell JJ; McGill University Health Centre, Montreal, Quebec, Canada.
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
Qi Y; BioMarin Pharmaceutical Inc., 105 Digital Dr., Novato, CA, 949449, USA. yulan.qi@bmrn.com.; Chan ML; BioMarin Pharmaceutical Inc., 105 Digital Dr., Novato, CA, 949449, USA.; Mould DR; Projections Research Inc., Phoenixville, PA, USA.; Larimore K; BioMarin Pharmaceutical Inc., 105 Digital Dr., Novato, CA, 949449, USA.; Fisheleva E; BioMarin Pharmaceutical Inc., 105 Digital Dr., Novato, CA, 949449, USA.; Cherukuri A; BioMarin Pharmaceutical Inc., 105 Digital Dr., Novato, CA, 949449, USA.; Day J; BioMarin (UK) Limited, London, UK.; Savarirayan R; Murdoch Children's Research Institute, Royal Children's Hospital, University of Melbourne, Parkville, VIC, Australia.; Irving M; Guy's and St Thomas' NHS Foundation Trust, Evelina Children's Hospital, London, UK.; Bacino CA; Baylor College of Medicine, Houston, TX, USA.; Hoover-Fong J; Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.; Ozono K; Osaka University Hospital, Osaka, Japan.; Mohnike K; Otto-von-Guericke-Universität, Magdeburg, Germany.; Wilcox WR; Emory University, Atlanta, GA, USA.; Bober MB; Nemours-Alfred I. du Pont Hospital for Children, Wilmington, DE, USA.; Henshaw J; BioMarin Pharmaceutical Inc., 105 Digital Dr., Novato, CA, 949449, USA.
Publisher: Adis, part of Springer Science+Business Media Country of Publication: Switzerland NLM ID: 7606849 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1179-1926 (Electronic) Linking ISSN: 03125963 NLM ISO Abbreviation: Clin Pharmacokinet Subsets: MEDLINE
Gourgas O; Department of Medicine, McGill University, Montreal, QC, Canada.; Lemire G; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Eaton AJ; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; University of Alberta, Edmonton, AB, Canada.; Alshahrani S; Faculty of Dental Medicine and Oral Health Sciences, McGill University, Montreal, QC, Canada.; Department of Oral and Maxillofacial Surgery, Faculty of Dentistry, King Abdulaziz University, Jeddah, Saudi Arabia.; Duker AL; Nemours Children's Health, Wilmington, DE, USA.; Li J; Department of Medicine, McGill University, Montreal, QC, Canada.; Carroll RS; Nemours Children's Health, Wilmington, DE, USA.; Mackenzie S; Nemours Children's Health, Wilmington, DE, USA.; Nikkel SM; University of British Columbia, Vancouver, BC, Canada.; Bober MB; Nemours Children's Health, Wilmington, DE, USA.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Murshed M; Department of Medicine, McGill University, Montreal, QC, Canada. monzur.murshed@mcgill.ca.; Faculty of Dental Medicine and Oral Health Sciences, McGill University, Montreal, QC, Canada. monzur.murshed@mcgill.ca.; Shriners Hospitals for Children - Canada, Montreal, QC, Canada. monzur.murshed@mcgill.ca.
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE; PubMed not MEDLINE
Academic Journal
Westerheim I; Osteogenesis Imperfecta Federation Europe, Heffen, Belgium.; Hart T; Osteogenesis Imperfecta Foundation, Gaithersburg, MD, USA.; van Welzenis T; Osteogenesis Imperfecta Federation Europe, Heffen, Belgium.; Wekre LL; TRS National Resource Center for Rare Disorders, Sunnaas Rehabilitation Hospital, Bjørnemyr, Norway.; Semler O; University of Cologne, Cologne, Germany.; Raggio C; Hospital for Special Surgery, New York, USA.; Bober MB; Alfred I. duPont Hospital, Wilmington, USA.; Rapoport M; Wickenstones Ltd., Abingdon, UK. maria@wickenstones.com.; Prince S; Wickenstones Ltd., Abingdon, UK.; Rauch F; McGill University, Montreal, Canada.
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
Semler O; Faculty of Medicine, Center for Rare Diseases, University Hospital Cologne, University of Cologne, Cologne, Germany. joerg.semler@uk-koeln.de.; Cormier-Daire V; Centre of Reference for Constitutional Bone Diseases (MOC), Department of Clinical Genetics, Paris Centre University, INSERM UMR 1163, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.; Lausch E; Pediatric Genetics, Center for Pediatric and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany.; Bober MB; Nemours Skeletal Dysplasia Program, Nemours Children's Hospital, Delaware, Wilmington, DE, USA.; Carroll R; Nemours Skeletal Dysplasia Program, Nemours Children's Hospital, Delaware, Wilmington, DE, USA.; Sousa SB; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; University Clinic of Genetics, Faculty of Medicine, Universidade de Coimbra, Coimbra, Portugal.; Deyle D; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Faden M; Medical Genetic Unit, Children's Hospital, King Saud Medical City, Riyadh, Saudi Arabia.; Hartmann G; Vienna Bone and Growth Center, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.; Huser AJ; Paley Advanced Limb Lengthening Institute, West Palm Beach, FL, USA.; Legare JM; Department of Pediatrics, School of Medicine and Public Health, University of Wisconsin, Madison, WI, USA.; Mohnike K; Universitätskinderklinik, Otto-Von-Guericke Universität, Magdeburg, Germany.; Rohrer TR; Department of General Pediatrics and Neonatology, Saarland University Medical Centre, Homburg, Germany.; Rutsch F; Department of General Pediatrics, Münster University Children's Hospital, Münster, Germany.; Smith P; Division of Endocrinology, Phoenix Children's Hospital, Phoenix, AZ, USA.; Travessa AM; Department of Medical Genetics, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.; Verardo A; Division of Pediatric Endocrinology, Children's Hospital of New Jersey at Newark Beth Israel Medical Center, Newark, NJ, USA.; White KK; Children's Hospital Colorado, Aurora, CO, USA.; Wilcox WR; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.; Hoover-Fong J; Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.
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
Academic Journal
Savarirayan R; Murdoch Children's Research Institute, Royal Children's Hospital Victoria, University of Melbourne, Parkville, VIC, Australia. Electronic address: ravi.savarirayan@mcri.edu.au.; Irving M; Guy's and St. Thomas' NHS Foundation Trust, Evelina Children's Hospital, London, UK.; Wilcox WR; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.; Bacino CA; Baylor College of Medicine, Houston, TX, USA.; Hoover-Fong JE; Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Harmatz P; UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.; Polgreen LE; Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.; Palm K; Otto-von-Guericke Universität, Universitätskinderklinik, Magdeburg, Germany.; Prada CE; Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Kubota T; Osaka University, Osaka, Japan.; Arundel P; Sheffield Children's NHS Foundation Trust, Sheffield Children's Hospital, Sheffield, UK.; Kotani Y; Tokushima University Hospital, Tokushima, Japan.; Leiva-Gea A; Hospital Universitario Virgen de la Victoria, Instituto de Investigación Biomédica de Málaga, Málaga, Spain.; Bober MB; Nemours-Alfred I. du Pont Hospital for Children, Wilmington, DE, USA.; Hecht JT; McGovern Medical School and School of Dentistry, University of Texas Health, Houston, TX, USA.; Legare JM; University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.; Lawrinson S; BioMarin (UK) Limited, Ltd., London, UK.; Low A; BioMarin (UK) Limited, Ltd., London, UK.; Sabir I; BioMarin (UK) Limited, Ltd., London, UK.; Huntsman-Labed A; BioMarin (UK) Limited, Ltd., London, UK.; Day JRS; BioMarin (UK) Limited, Ltd., London, UK.
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 Subsets: MEDLINE
Academic Journal
Robertson N; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; Joshi A; South West Thames Centre for Genomics, St George's, Epsom and St Helier University Hospitals and Health Group, London, UK.; Ritchie F; Royal Hospital for Children and Young People, Edinburgh, UK.; Schim van der Loeff I; Great North Children's Hospital, RVI Hospital, Newcastle Upon Tyne, UK.; Royan D; Royal Hospital for Children and Young People, Edinburgh, UK.; Duker AL; Nemours Children's Hospital, Wilmington, Delaware, USA.; Rice GI; Division of Evolution, Infection & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Bober MB; Nemours Children's Hospital, Wilmington, Delaware, USA.; Mansour S; South West Thames Centre for Genomics, St George's, Epsom and St Helier University Hospitals and Health Group, London, UK.; Cardiovascular and Genomics Research Institute, City St George's University of London, London, UK.; Campbell DI; Great North Children's Hospital, RVI Hospital, Newcastle Upon Tyne, UK.; Brennan M; Royal Hospital for Children and Young People, Edinburgh, UK.; Brown L; Royal Hospital for Children and Young People, Edinburgh, UK.; Jones L; Royal Hospital for Children and Young People, Edinburgh, UK.; Williams E; Great North Children's Hospital, RVI Hospital, Newcastle Upon Tyne, UK.; Jackson AP; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; Crow YJ; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Université Paris Cité, Paris, France.
Publisher: Wiley-VCH Country of Publication: Germany NLM ID: 1273201 Publication Model: Print Cited Medium: Internet ISSN: 1521-4141 (Electronic) Linking ISSN: 00142980 NLM ISO Abbreviation: Eur J Immunol Subsets: MEDLINE
Academic Journal
Starrett JH; Tyra Biosciences, Carlsbad, California, USA.; Lemoine C; Université de Paris Cité, Imagine Institute, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR1163, Paris, France.; Guillo M; Université de Paris Cité, Imagine Institute, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR1163, Paris, France.; Fayad C; Université de Paris Cité, Imagine Institute, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR1163, Paris, France.; Kaci N; Université de Paris Cité, Imagine Institute, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR1163, Paris, France.; Neal M; Tyra Biosciences, Carlsbad, California, USA.; Pettitt EA; Tyra Biosciences, Carlsbad, California, USA.; Pache M; Tyra Biosciences, Carlsbad, California, USA.; Ye Q; Tyra Biosciences, Carlsbad, California, USA.; Chouinard M; Tyra Biosciences, Carlsbad, California, USA.; Allen EL; Tyra Biosciences, Carlsbad, California, USA.; Baujat G; Université de Paris Cité, Imagine Institute, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR1163, Paris, France.; Department of Genomic Medicine for Rare Diseases, French Reference Center for Constitutional Bone Diseases, Necker-Enfants Malades Hospital, Paris, France.; Hudkins RL; Tyra Biosciences, Carlsbad, California, USA.; Bober MB; Tyra Biosciences, Carlsbad, California, USA.; Harris T; Tyra Biosciences, Carlsbad, California, USA.; Swanson RV; Tyra Biosciences, Carlsbad, California, USA.; Legeai-Mallet L; Université de Paris Cité, Imagine Institute, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR1163, Paris, France.
Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: eCollection Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE
Academic Journal
O'Connell DA; Thomas Jefferson University Philadelphia PA USA.; Carroll RS; Thomas Jefferson University Philadelphia PA USA.; Nemours Children's Hospital, Delaware Wilmington DE USA.; Duker AL; Nemours Children's Hospital, Delaware Wilmington DE USA.; Schelhaas AJ; Nemours Children's Hospital, Delaware Wilmington DE USA.; Postell MM; Nemours Children's Hospital, Delaware Wilmington DE USA.; Fawcett PT; Nemours Children's Hospital, Delaware Wilmington DE USA.; Bober MB; Thomas Jefferson University Philadelphia PA USA.; Nemours Children's Hospital, Delaware Wilmington DE USA.
Publisher: Oxford University Press Country of Publication: England NLM ID: 101707013 Publication Model: eCollection Cited Medium: Internet ISSN: 2473-4039 (Electronic) Linking ISSN: 24734039 NLM ISO Abbreviation: JBMR Plus Subsets: PubMed not MEDLINE
Academic Journal
Gourgas O; Department of Medicine, McGill University, Montreal, QC, Canada.; Lemire G; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Eaton AJ; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; University of Alberta, Edmonton, AB, Canada.; Alshahrani S; Faculty of Dental Medicine and Oral Health Sciences, McGill University, Montreal, QC, Canada.; Department of Oral and Maxillofacial Surgery, Faculty of Dentistry, King Abdulaziz University, Jeddah, Saudi Arabia.; Duker AL; Nemours Children's Health, Wilmington, DE, USA.; Li J; Department of Medicine, McGill University, Montreal, QC, Canada.; Carroll RS; Nemours Children's Health, Wilmington, DE, USA.; Mackenzie S; Nemours Children's Health, Wilmington, DE, USA.; Nikkel SM; University of British Columbia, Vancouver, BC, Canada.; Bober MB; Nemours Children's Health, Wilmington, DE, USA.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Murshed M; Department of Medicine, McGill University, Montreal, QC, Canada. monzur.murshed@mcgill.ca.; Faculty of Dental Medicine and Oral Health Sciences, McGill University, Montreal, QC, Canada. monzur.murshed@mcgill.ca.; Shriners Hospitals for Children - Canada, Montreal, QC, Canada. monzur.murshed@mcgill.ca.
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
Academic Journal
Campbell J; 1Nemours Children's Hospital, Thomas Jefferson University, Wilmington, Delaware.; Legare JM; 2Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.; Piatt J; 1Nemours Children's Hospital, Thomas Jefferson University, Wilmington, Delaware.; Gough E; 3Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland.; Pauli RM; 2Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.; Hashmi SS; 5McGovern Medical School at University of Texas Health, Houston, Texas.; Rodriguez-Buritica DF; 5McGovern Medical School at University of Texas Health, Houston, Texas.; Modaff P; 2Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.; Little ME; 1Nemours Children's Hospital, Thomas Jefferson University, Wilmington, Delaware.; Serna ME; 5McGovern Medical School at University of Texas Health, Houston, Texas.; Smid CJ; 2Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.; Dujmusic L; 2Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.; Hecht JT; 5McGovern Medical School at University of Texas Health, Houston, Texas.; Hoover-Fong JE; 4Department of Genetic Medicine, Greenberg Center for Skeletal Dysplasias, Johns Hopkins University, Baltimore, Maryland; and.; Bober MB; 1Nemours Children's Hospital, Thomas Jefferson University, Wilmington, Delaware.
Publisher: American Association of Neurological Surgeons Country of Publication: United States NLM ID: 101463759 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 1933-0715 (Electronic) Linking ISSN: 19330707 NLM ISO Abbreviation: J Neurosurg Pediatr Subsets: MEDLINE
Report
Sirohi N; Division of Allergy/Immunology, Nemours Children's Health, Wilmington, DE, USA.; Department of Pediatrics, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA.; Duker AL; Division of Medical Genetics, Nemours Children's Health, Wilmington, DE, USA.; Bober MB; Department of Pediatrics, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA.; Division of Medical Genetics, Nemours Children's Health, Wilmington, DE, USA.; DeFelice ML; Division of Allergy/Immunology, Nemours Children's Health, Wilmington, DE, USA. magee.defelice@nemours.org.; Department of Pediatrics, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA. magee.defelice@nemours.org.
Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE
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