학술논문

발행년
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(예 : 2010-2015)
'학술논문' 에서 검색결과 220건 | 목록 1~10
Editorial & Opinion
Waisbren SE; Boston Children's Hospital and Harvard Medical School, Boston, MA, United States of America. Electronic address: Susan.waisbren@childrens.harvard.edu.; Christ SE; Clinical Neuropsychology Laboratory, University of Missouri, Columbia, MO, United States of America.; Bilder DA; Huntsman Mental Health Institute, University of Utah, Salt Lake City, UT, United States of America.; Bjoraker KJ; 3:1 Neuropsychology Consultants, PLLC, Aurora, CO, United States of America.; Bolton S; Clinical Neuropsychology Laboratory, University of Missouri, Columbia, MO, United States of America.; Chamberlin S; flok Health.org (advocacy and research organization), Montclair, NJ, United States of America.; Grant ML; Tower Health Medical Group, St. Christopher's Hospital for Children, and Drexel College of Medicine, Philadelphia, PA, United States of America.; Janzen DM; Doernbecher Children's Hospital and Oregon Health & Science University, Portland, OR, United States of America.; Katz R; Ann & Robert H. Lurie Children's Hospital, Division of Genetics, Genomics and Metabolism, Chicago, IL, United States of America.; Lubliner E; Lubliner Psychological Services, Miller Place, NY and Hofstra University, Hempstead, NY, United States of America.; Martin A; Department of Pediatrics, Section of Neurology, Children's Hospital Colorado and University of Colorado School of Medicine, Aurora, CO, United States of America.; McQueen K; National PKU Alliance, United States of America.; Moshkovich O; ICON Insights, Evidence and Value, Raleigh, NC, United States of America.; Nguyen-Driver M; University of Arkansas for Medical Sciences, Little Rock, AR, United States of America.; Shim S; Ann & Robert H. Lurie Children's Hospital, Division of Genetics, Genomics and Metabolism, Chicago, IL, United States of America.; Stefanatos AK; Children's Hospital of Philadelphia, Philadelphia, PA, United States of America.; Wilkening G; Children's Hospital of Colorado, University of Colorado Schools of Medicine and Public Health, Aurora, CO, United States of America.; Harding C; Doernbecher Children's Hospital and Oregon Health & Science University, Portland, OR, United States of America.
Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE
Academic Journal
Ramos-Álvarez R; Department of Social Psychology, Melilla Campus, University of Granada, Melilla, Spain. Electronic address: rodolfo@ugr.es.; Kapp M; Teaching Innovation Project, Melilla Campus, University of Granada, Melilla, Spain.; Bélanger-Quintana A; Metabolic Diseases Unit, Department of Paediatrics, Ramón y Cajal Hospital, CSUR, MetabERN, Madrid, Spain.; Rodríguez-Ruiz MM; Osakidetza, Basque Health Service, Vitoria, Spain.; Solano-Galvis CA; Department of Experimental Psychology, Melilla Campus, University of Granada, Melilla, Spain.; Campos Soto A; Department of Didactics and School Organization, Melilla Campus, University of Granada, Melilla, Spain.; Ahring K; Center for PKU, Copenhagen University Hospital, Copenhagen, Denmark.; Waisbren SE; Genetics and Metabolism Programs, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States.
Publisher: Elsevier Science Country of Publication: United States NLM ID: 8802712 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-1244 (Electronic) Linking ISSN: 08999007 NLM ISO Abbreviation: Nutrition Subsets: MEDLINE
Electronic Resource
Rubio-Gozalbo , ME , Haskovic , M , Bosch , AM , Burnyte , B , Coelho , AI , Cassiman , D , Couce , ML , Dawson , C , Demirbas , D , Derks , T , Eyskens , F , Forga , MT , Grunewald , S , Haberle , J , Hochuli , M , Hubert , A , Huidekoper , H , Janeiro , P , Kotzka , J , Knerr , I , Labrune , P , Landau , YE , Langendonk , J , Moeslinger , D , Mueller-Wieland , D , Murphy , E , Ounap , K , Ramadza , D , Rivera , IA , Scholl-Buergi , S , Stepien , KM , Thijs , A , Tran , C , Vara , R , Visser , G , Vos , R , Vries , M , Waisbren , SE , Welsink-Karssies , MM , Wortmann , SB , Gautschi , M , Treacy , EP & Berry , GT 2019 , ' The natural history of classic galactosemia: lessons from the GalNet registry ' , Orphanet Journal of Rare Diseases , vol. 14 , 86 .
Electronic Resource
Posset , R , Garbade , SF , Gleich , F , Gropman , AL , de Lonlay , P , Hoffmann , GF , Garcia-Cazorla , A , Nagamani , SCS , Baumgartner , MR , Schulze , A , Dobbelaere , D , Yudkoff , M , Kölker , S , Zielonka , M , Ah Mew , N , Berry , SA , McCandless , SE , Coughlin , C , Enns , G , Gallagher , RC , Burrage , LC , Seminara , J , Harding , CO , Burgard , P , Le Mons , C , Merritt , JL II , Stricker , T , Bedoyan , JK , Berry , GT , Diaz , GA , Wong , D , Tuchman , M , Waisbren , S , Weisfeld-Adams , JD , Burlina , AB , Leão Teles , E , Pedrón-Giner , C , Lund , AM , Dionisi-Vici , C , Williams , M , Mütze , U , Karall , D , Blasco-Alonso , J , Couce , ML , Sykut-Cegielska , J , Augoustides-Savvopoulou , P , Ruiz Gomez , A , Bari? , I , Schiff , M , Chien , YH , Lindner , M , Chabrol , B , Skouma , A , Zeman , J , Sokal , E , Santer , R , Eyskens , F , Freisinger , P , Peña-Quintana , L , Roland , D , Cortès-Saladelafont , E & Djordjevic , M 2020 , ' Long-term effects of medical management on growth and weight in individuals with urea cycle disorders ' , Scientific Reports , vol. 10 , no. 1 , 11948 .
Academic Journal
Pereira S; Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas.; Smith HS; Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas.; Frankel LA; Department of Psychological, Health, and Learning Sciences, University of Houston, Houston, Texas.; Christensen KD; Department of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, Massachusetts.; Department of Population Medicine, Harvard Medical School, Boston, Massachusetts.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Islam R; Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas.; Robinson JO; Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas.; Genetti CA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.; Blout Zawatsky CL; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts.; Zettler B; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts.; Parad RB; Department of Pediatric Newborn Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts.; Waisbren SE; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.; Beggs AH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.; Green RC; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts.; Precision Population Health Initiative, Ariadne Labs, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Holm IA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.; McGuire AL; Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas.
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
Report
Rohr F; Met Ed Co, Boulder, CO, USA.; Wessel A; Department of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Nutrition, Boston Children's Hospital, Boston, MA, USA.; Harding CO; Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR, USA.; Waisbren SE; Harvard Medical School, Boston, MA, USA.; Viau K; Department of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Kritzer A; Department of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.
Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE
Academic Journal
Waisbren SE; Boston Children's Hospital and Harvard Medical School, Boston, MA, USA. susan.waisbren@childrens.harvard.edu.
Publisher: Springer Country of Publication: United States NLM ID: 8610370 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-7365 (Electronic) Linking ISSN: 08857490 NLM ISO Abbreviation: Metab Brain Dis Subsets: MEDLINE
Academic Journal
Schwartz TS; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Rutgers Robert Wood Johnson Medical School, Piscataway, New Jersey, USA.; Christensen KD; PRecisiOn Medicine Translational Research (PROMoTeR) Center, Department of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, Massachusetts, USA.; The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA.; Uveges MK; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.; Connell School of Nursing, Boston College, Chestnut Hill, Massachusetts, USA.; Waisbren SE; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA.; McGuire AL; Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas, USA.; Pereira S; Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas, USA.; Robinson JO; Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas, USA.; Beggs AH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA.; Green RC; The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA.; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.; Bachmann GA; Rutgers Robert Wood Johnson Medical School, Piscataway, New Jersey, USA.; Rabson AB; Rutgers Robert Wood Johnson Medical School, Piscataway, New Jersey, USA.; Holm IA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA.
Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE
Academic Journal
Yee KS; Takeda Development Center Americas, Inc., Cambridge, MA, USA. karen.yee@takeda.com.; Wu Y; Takeda Development Center Americas, Inc., Cambridge, MA, USA.; Harrington M; Shire (a member of the Takeda group of companies), Lexington, MA, USA.; Pfizer, 610 Main Street, Cambridge, MA, 02139, USA.; Waisbren SE; Genetics and Genomics Division, Boston Children's Hospital, Boston, MA, USA.
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
Waisbren SE; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States of America. Electronic address: susan.waisbren@childrens.harvard.edu.; Tran C; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States of America.; Demirbas D; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States of America.; Gubbels CS; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States of America.; Hsiao M; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States of America.; Daesety V; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States of America.; Berry GT; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States of America. Electronic address: gerard.berry@childrens.harvard.edu.
Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE
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