학술논문
'학술논문'
에서 검색결과 270건 | 목록
1~10
Academic Journal
Sirrs, Sandra; Fabbro, Elisa; Sechi, Annalisa; Aguiar, P; Ben‐Omran, T; Bordugo, A; Brodosi, L; Cassiman, D; Akj, Chan; Chaves, P; Gerald, De Jong; Douillard, C; Durães, J; Naga, K El; Fazio, T; Faghfoury, H; Galloway, P; Glamuzina, E; Dcc, Gomes; Hollak, Ce; Hochuli, M; Horvath, G; Mch, Janssen; Kantola, I; Khan, A; Lam, Kwok M.K. Pok Fu; Lachmann, R; Langendonk, J; Langeveld, M; Lavigne, C; Lehman, A; Loughrey, C; Maillot, F; Marchi, G; Marelli, C; Mattman, A; Meersseman, W; Miller‐Hodges, E; Mochel, F; Morel, C; Murphy, E; Nimmo, G; Oliveira, Jp; Pastores, G; Pintos‐Morell, G; Prasad, C; Rahman, S; Rahman, Y; Ribeiro, R; Rockman‐Greenberg, C; Sharma, R; Stepien, Km; Tarnopolsky, M; Tchan, M; Vitturi, N; Wagenmakers, M; Wilcox, G; Ziagaki, A
JIMD Reports. September 2022, Vol. 63 Issue 5, p468, 7 p.
Academic Journal
Drug Design, Development and Therapy, Vol Volume 14, Pp 2149-2158 (2020)
Academic Journal
Barbero-Herranz R; Microbiology Department, Hospital Universitario Ramón y Cajal and Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), 28034 Madrid, Spain.; Garriga-García M; Endocrinology and Nutrition Service, Hospital Universitario Ramón y Cajal, 28034 Madrid, Spain.; Moreno-Blanco A; Microbiology Department, Hospital Universitario Ramón y Cajal and Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), 28034 Madrid, Spain.; CIBER de Enfermedades Infecciosas, Instituto de Salud Carlos III, 28029 Madrid, Spain.; Palacios E; Microbiology Department, Hospital Universitario Ramón y Cajal and Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), 28034 Madrid, Spain.; Ruiz-Sala P; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Autonomous University of Madrid (UAM), IdiPaz, 28049 Madrid, Spain.; CIBER de Enfermedades Raras, Instituto de Salud Carlos III, 28049 Madrid, Spain.; Vicente-Santamaría S; Endocrinology and Nutrition Service, Hospital Universitario Ramón y Cajal, 28034 Madrid, Spain.; Stanescu S; Unidad de Enfermedades Metabólicas Hospital, CSUR, MetabERN, Pediatric Department, Hospital Universitario Ramón y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), 28034 Madrid, Spain.; Belanger-Quintana A; Unidad de Enfermedades Metabólicas Hospital, CSUR, MetabERN, Pediatric Department, Hospital Universitario Ramón y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), 28034 Madrid, Spain.; Pintos-Morell G; Vall d'Hebron Institut de Recerca (VHIR), Unidad de Enfermedades Raras, Hospital Vall d'Hebron Barcelona Hospital Campus, Comité Médico Consultivo MPS-Lisosomales, 08035 Barcelona, Spain.; Arconada B; Federación Española de Enfermedades Raras (FEDER), 28009 Madrid, Spain.; Del Campo R; Microbiology Department, Hospital Universitario Ramón y Cajal and Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), 28034 Madrid, Spain.; CIBER de Enfermedades Infecciosas, Instituto de Salud Carlos III, 28029 Madrid, Spain.; Faculty of Health Sciences, Alfonso X El Sabio University, Villanueva de la Cañada, 28691 Madrid, Spain.; Avendaño-Ortiz J; Microbiology Department, Hospital Universitario Ramón y Cajal and Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), 28034 Madrid, Spain.; CIBER de Enfermedades Infecciosas, Instituto de Salud Carlos III, 28029 Madrid, Spain.
Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE
Academic Journal
Adams DR; National Human Genome Research Institute, National Institutes of Health, USA. Electronic address: david.adams@nih.gov.; van Karnebeek CDM; Departments of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Amsterdam Gastro-enterology Endocrinology Metabolism, Amsterdam University Medical Centers, the Netherlands.; Agulló SB; Centre Nacional d'Anàlisi Genòmica (CNAG), Spain; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Spain.; Faùndes V; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile, Chile.; Jamuar SS; Genetics Service, KK Women's and Children's Hospital and Paediatrics ACP, Duke-NUS Medical School, Singapore; Singhealth Duke-NUS Institute of Precision Medicine, Singapore.; Lynch SA; Children's Health Ireland, Ireland.; Pintos-Morell G; Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital, Spain; MPS-Spain Patient Advocacy Organization, Spain.; Puri RD; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, India.; Shai R; Pediatric Cancer Molecular Lab, Sheba Medical Center, Israel.; Steward CA; Genomics England, United Kingdom.; Tumiene B; Vilnius University, Faculty of Medicine, Institute of Biomedical Sciences, Lithuania.; Verloes A; Département de Génétique, CHU Paris - Hôpital Robert Debré, France.
Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE
Academic Journal
Ramaswami U; Beck M; Hughes D; Kampmann C; Botha J; Pintos-Morell G; West ML; Niu DM; Nicholls K; Giugliani R
Drug Design, Development and Therapy, Vol Volume 13, Pp 3705-3715 (2019)
Academic Journal
Guillem Pintos-Morell; Javier Blasco-Alonso; María L. Couce; Luís G. Gutiérrez-Solana; Encarna Guillén-Navarro; Mar O'Callaghan; Mireia del Toro
Molecular Genetics and Metabolism Reports, Vol 15, Iss , Pp 116-120 (2018)
Electronic Resource
Moreno-Martinez, D.; Aguiar, P.; Auray-Blais, C.; Beck, M.; Bichet, D. G.; Burlina, A.; Cole, D.; Elliott, P.; Feldt-Rasmussen, U.; Feriozzi, S.; Fletcher, J.; Giugliani, R.; Jovanovic, A.; Kampmann, C.; Langeveld, M.; Lidove, O.; Linhart, A.; Mauer, M.; Moon, J. C.; Muir, A.; Nowak, A.; Oliveira, J. P.; Ortiz, A.; Pintos-Morell, G.; Politei, J.; Rozenfeld, P.; Schiffmann, R.; Svarstad, E.; Talbot, A. S.; Thomas, M.; Tøndel, C.; Warnock, D.; West, M. L.; Hughes, D. A.
Moreno-Martinez , D , Aguiar , P , Auray-Blais , C , Beck , M , Bichet , D G , Burlina , A , Cole , D , Elliott , P , Feldt-Rasmussen , U , Feriozzi , S , Fletcher , J , Giugliani , R , Jovanovic , A , Kampmann , C , Langeveld , M , Lidove , O , Linhart , A , Mauer , M , Moon , J C , Muir , A , Nowak , A , Oliveira , J P , Ortiz , A , Pintos -Morell , G , Politei , J , Rozenfeld , P , Schiffmann , R , Svarstad , E , Talbot , A S , Thomas , M , Tøndel , C , Warnock , D , West , M L & Hughes , D A 2021 , ' Standardising clinical outcomes measures for adult clinical trials in Fabry disease : A global Delphi consensus ' , Molecular Genetics and Metabolism , vol. 132 , no. 4 , pp. 234-243 .
Academic Journal
Casado, E.; Gómez-Alonso, C.; Pintos-Morell, G.; Bou-Torrent, R.; Barreda-Bonis, A.C.; Torregrosa, J.V.; Broseta-Monzó, J.J.; Arango-Sancho, P.; Chocrón-de-Benzaquen, S.; Olmedilla-Ishishi, Y.; Soler-López, B.
In: Orphanet Journal of Rare Diseases . (Orphanet Journal of Rare Diseases, December 2023, 18(1))
Electronic Resource
Academic Journal
Alcalde-Martín, C.; Muro-Tudelilla, J.M.; Cancho-Candela, R.; Gutiérrez-Solana, L.G.; Pintos-Morell, G.; Martí-Herrero, M.; Munguira-Aguado, P.; Galán-Gómez, E.
European Journal of Medical Genetics. 53(6):371-377
검색 결과 제한하기
제한된 항목
[검색어] Pintos‐Morell, G
발행연도 제한
-
학술DB(Database Provider)
저널명(출판물, Title)
출판사(Publisher)
자료유형(Source Type)
주제어
언어