학술논문

발행년
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(예 : 2010-2015)
'학술논문' 에서 검색결과 179건 | 목록 1~10
Academic Journal
Feillet F; Hôpital d'enfants Brabois, INSERM 1256 NGERE, Faculty of Medicine, Vandoeuvre les Nancy, France.; Ficicioglu C; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Lagler FB; Institute of Inherited Metabolic Diseases and Department of Pediatrics, Paracelsus Medical Private University, Salzburg, Austria.; Longo N; University of Utah, Salt Lake City, Utah, USA.; Muntau AC; University Children's Hospital, Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Burlina A; University Hospital, Padova, Italy.; Trefz FK; Division of Inborn Metabolic Diseases, University Children's Hospital, Department of General Pediatrics, Heidelberg, Germany.; van Spronsen FJ; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center of Groningen, University of Groningen, Groningen, The Netherlands.; Arnoux JB; Necker-Enfants Malades University Hospital, Paris, France.; Lindstrom K; BioMarin Pharmaceutical Inc, Novato, California, USA.; Lilienstein J; BioMarin Pharmaceutical Inc, Novato, California, USA.; Clague GE; BioMarin Pharmaceutical Inc, Novato, California, USA.; Rowell R; BioMarin Pharmaceutical Inc, Novato, California, USA.; Burton BK; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.
Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE
Academic Journal
Okten SB; Acibadem Health Group, Department of Obstetrics, Gynecology and Reproductive Medicine, Acibadem Kozyatagi Hospital, Istanbul, Turkey. Electronic address: berkemokten@gmail.com.; Cetin C; Faculty of Medicine, Department of Obstetrics and Gynecology, Bezmialem University, Istanbul, Turkey.; Tok OE; School of Medicine and Research Institute for Health Sciences and Technologies, Histology and Embryology, Istanbul Medipol University, Istanbul, Turkey.; Guler EM; Hamidiye Faculty of Medicine Department of Medical Biochemistry, University of Health Sciences Turkey and Haydarpasa Numune Health Application and Research Center, Clinic of Medical Biochemistry, Istanbul, Turkey.; Taha SH; Faculty of Medicine, Department of Obstetrics and Gynecology, Bezmialem University, Istanbul, Turkey.; Ozcan P; Faculty of Medicine, Department of Obstetrics and Gynecology, Bezmialem University, Istanbul, Turkey.; Ficicioglu C; Acibadem Health Group, Department of Obstetrics, Gynecology and Reproductive Medicine, Acibadem Kozyatagi Hospital, Istanbul, Turkey.
Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101122473 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1472-6491 (Electronic) Linking ISSN: 14726483 NLM ISO Abbreviation: Reprod Biomed Online Subsets: MEDLINE
Academic Journal
Katler QS; Division of Reproductive Endocrinology and Infertility, Department of Gynecology and Obstetrics, Emory University School of Medicine, Atlanta, Georgia, USA.; Stepien KM; Adult Inherited Metabolic Diseases Department, Salford Royal Foundation NHS Trust, Salford, UK.; Paull N; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.; Patel S; Neuroscience and Behavioral Biology Program, Emory University, Atlanta, Georgia, USA.; Adams M; Division of Pediatric Genetics and Metabolism, UNC School of Medicine, Chapel Hill, North Carolina, USA.; Balci MC; Department of Pediatric Metabolic Disease, Istanbul Medical School, Istanbul, Turkey.; Berry GT; Division of Genetics and Genomics, Department of Pediatrics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Bosch AM; Division of Metabolic Diseases, Amsterdam Gastroenterology Endocrinology Metabolism, Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.; DeLaO A; Wasatch Pediatrics, Salt Lake City, Utah, USA.; Demirbas D; Division of Genetics and Genomics, Department of Pediatrics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Edman J; Department of Pediatric Genetics, University of Illinois-Chicago, Chicago, Illinois, USA.; Ficicioglu C; Division of Human Genetics and Metabolism, The Children's Hospital of Philadelphia, Perelman School of Medicine at The University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Goff M; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Hacker S; Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.; Knerr I; National Centre for Inherited Metabolic Disorders, Temple St. Children's University Hospital, Dublin, Ireland.; Lancaster K; Division of Pediatric Genetics and Metabolism, UNC School of Medicine, Chapel Hill, North Carolina, USA.; Li H; Departments of Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA.; Mendelsohn BA; Department of Genetics, Oakland Medical Center, Kaiser Permanente, Oakland, California, USA.; Nichols B; Department of Clinical Nutrition, Arkansas Children's Hospital, Little Rock, Arkansas, USA.; de Rezende Pinto WBV; Division of Neuromuscular Diseases, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.; Rocha JC; Nutrition & Metabolism, NOVA Medical School, Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisbon, Portugal.; Reference Centre of Inherited Metabolic Diseases, Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal.; Center for Health Technology and Services Research (CINTESIS), NOVA Medical School, Lisbon, Portugal, Lisbon, Portugal.; Rubio-Gozalbo ME; Department of Pediatrics, Department of Clinical Genetics, GROW-School for Oncology and Reproduction, European Reference Network for Hereditary Metabolic Disorders (MetabERN) member and United for Metabolic Diseases Member, Maastricht University Medical Centre, Maastricht, The Netherlands.; Saad-Naguib M; Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.; Scholl-Buergi S; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Searcy S; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; de Souza PVS; Division of Neuromuscular Diseases, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.; Wittenauer A; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.; Fridovich-Keil JL; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE
Editorial & Opinion
Millington DS; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27709, USA.; Ficicioglu C; Section of Biochemical Genetics, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101665400 Publication Model: Electronic Cited Medium: Internet ISSN: 2409-515X (Electronic) Linking ISSN: 2409515X NLM ISO Abbreviation: Int J Neonatal Screen Subsets: PubMed not MEDLINE
Academic Journal
Ozcan P; Department of Obstetrics and Gynecology, Bezmialem University Faculty of Medicine Istanbul, Turkey. Electronic address: drpinarozcan@hotmail.com.; Cetin C; Department of Obstetrics and Gynecology, Bezmialem University Faculty of Medicine Istanbul, Turkey.; Okten B; Department of Obstetrics and Gynecology, Acibadem Health Group Istanbul, Turkey.; Tanoglu FB; Department of Obstetrics and Gynecology, Bezmialem University Faculty of Medicine Istanbul, Turkey.; Taha HS; Department of Obstetrics and Gynecology, Bezmialem University Faculty of Medicine Istanbul, Turkey.; Pasin O; Department of Biostatistics, Faculty of Medicine, Bezmialem Foundation University, Fatih Istanbul, Turkey.; Ficicioglu C; Department of Obstetrics and Gynecology, Acibadem Health Group Istanbul, Turkey.
Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101122473 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1472-6491 (Electronic) Linking ISSN: 14726483 NLM ISO Abbreviation: Reprod Biomed Online Subsets: MEDLINE
Academic Journal
Gold JI; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA. Electronic address: goldj@chop.edu.; Gold NB; Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital for Children and Harvard Medical School, Boston, MA.; Strong A; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA.; Tully E; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.; Xiao R; Division of Biostatistics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Biostatistics, Epidemiology & Informatics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.; Schwartz LA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA; Division of Oncology, The Children's Hospital of Philadelphia, Philadelphia, PA.; Ficicioglu C; Division of Human Genetics, Section of Biochemical Genetics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
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
Brower A; American College of Medical Genetics and Genomics (ACMG), Bethesda, MD, United States.; Chan K; American College of Medical Genetics and Genomics (ACMG), Bethesda, MD, United States.; Williams M; Geisinger Health System, Danville, PA, United States.; Berry S; Division of Genetics and Metabolism, Department of Pediatrics, University of Minnesota Twin Cities, Minneapolis, MN, United States.; Currier R; School of Medicine, University of California, San Francisco, San Francisco, CA, United States.; Rinaldo P; Mayo College, Ajmer, India.; Caggana M; Wadsworth Center, New York State Department of Health, Albany, NY, United States.; Gaviglio A; Connectics Consulting, Atlanta, GA, United States.; Wilcox W; Department of Human Genetics, Division of Medical Genetics, Emory University, Atlanta, GA, United States.; Steiner R; Department of Pediatrics, University of Wisconsin-Madison, Madison, WI, United States.; Holm IA; Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.; Taylor J; American College of Medical Genetics and Genomics (ACMG), Bethesda, MD, United States.; Orsini JJ; Wadsworth Center, New York State Department of Health, Albany, NY, United States.; Brunelli L; Division of Neonatology, The University of Utah, Salt Lake City, UT, United States.; Adelberg J; MedStar Heart and Vascular Institute, Fairfax, VA, United States.; Bodamer O; Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.; Viall S; Departments of Molecular & Medical Genetics and Pediatrics, Oregon Health and Science University, Portland, OR, United States.; Scharfe C; Department of Pediatrics, Yale University, New Haven, CT, United States.; Wasserstein M; Albert Einstein College of Medicine, New York, NY, United States.; Chen JY; Center for Genomic Medicine, Harvard University, Cambridge, MA, United States.; Escolar M; Department of Pediatrics, Children's Hospital of Pittsburgh, Pittsburgh, PA, United States.; Goldenberg A; Department of Bioethics and Medical Humanities, Case Western Reserve University, Cleveland, OH, United States.; Swoboda K; Massachusetts General Hospital Cancer Center, Boston, MA, United States.; Ficicioglu C; Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Matern D; Mayo Clinic, Rochester, MN, United States.; Lee R; Texas Department of State Health Services, Austin, TX, United States.; Watson M; Washington University School of Medicine (Adjunct), St. Louis, MO, United States.
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
Academic Journal
Szigety KM; Division of Human Genetics.; Crowley TB; Division of Human Genetics.; Gaiser KB; Division of Human Genetics.; Chen EY; Division of Human Genetics.; Priestley JRC; Division of Human Genetics.; Williams LS; Division of Human Genetics.; Rangu SA; Division of Human Genetics.; Wright CM; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; Adusumalli P; Division of Human Genetics.; Ahrens-Nicklas RC; Division of Human Genetics.; Calderon B; Division of Human Genetics.; Cuddapah SR; Division of Human Genetics.; Edmondson A; Division of Human Genetics.; Ficicioglu C; Division of Human Genetics.; Ganetzky R; Division of Human Genetics.; Kalish JM; Division of Human Genetics.; Departments of Pediatrics.; Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; Krantz ID; Division of Human Genetics.; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; Departments of Pediatrics.; Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; McDonald-McGinn DM; Division of Human Genetics.; Departments of Pediatrics.; Medne L; Division of Human Genetics.; Muraresku C; Division of Human Genetics.; Pyle LC; Division of Human Genetics.; Departments of Pediatrics.; Zackai EH; Division of Human Genetics.; Campbell IM; Division of Human Genetics.; Department of Biomedical and Health Information, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Sheppard SE; Division of Human Genetics.; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; Departments of Pediatrics.
Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model: Print Cited Medium: Internet ISSN: 1098-4275 (Electronic) Linking ISSN: 00314005 NLM ISO Abbreviation: Pediatrics Subsets: MEDLINE
Academic Journal
Strong A; Division of Human Genetics, Children's Hospital of Philadelphia.; The Center for Applied Genomics, Children's Hospital of Philadelphia.; Ficicioglu C; Division of Human Genetics, Children's Hospital of Philadelphia.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
Publisher: Wiley Country of Publication: United States NLM ID: 8211545 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1536-4801 (Electronic) Linking ISSN: 02772116 NLM ISO Abbreviation: J Pediatr Gastroenterol Nutr Subsets: MEDLINE
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