يعرض 1 - 20 نتائج من 89 نتيجة بحث عن '"Gussinye, M"', وقت الاستعلام: 0.59s تنقيح النتائج
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    Academic Journal
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    Academic Journal

    المساهمون: Center for Marine Environmental Sciences Bremen (MARUM), Universität Bremen Deutschland = University of Bremen Germany = Université de Brême Allemagne, Petrobras Research Center (CENPES), Petrobras, Guangzhou Institute of Geochemistry Chinese Academy of Sciences (CAS), Guangzhou, China (GIGCAS), Chinese Academy of Sciences Beijing (CAS), IFP Energies nouvelles (IFPEN), Southern University of Science and Technology (SUSTech)

    المصدر: ISSN: 0278-7407.

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    المساهمون: Grupo de Apoyo al Síndrome de Insensibilidad a los Andrógenos (GrApSIA), Audi,L, Fernández-Cancio,M, Carrascosa,A, Andaluz,P, Vilaró,E, Vicens-Calvet,E, Gussinyé,M, Albusi,MA, Yeste,D, Clemente,M Pediatric Endocrinology Research Unit, Research Institute, Hospital Vall d’Hebron, Autonomous University, CIBERER (Centre for Biomedical Research Network on Rare Diseases), Instituto de Salud Carlos III, Barcelona, Spain. Torán,N, Pirón,C, Hernandez de la Calle,I, Campo,M del, Vendrell,T Departments of Pathology, Pediatric Surgery, Gynecology, and Genetics, Hospital Vall d’Hebron, Barcelona, Spain. Blanco,A, Martínez-Mora,J, Granada,ML, Salinas,I Departments of Pediatric Surgery, Biochemistry, and Endocrinology, Hospital Germans Trias-Pujol, Badalona, Spain. Forn,J, Calaf,J Departments of Pediatrics and Gynecology, Hospital Santa Creu i Sant Pau, Barcelona, Spain. Angerri,O Department of Urology, Fundació Puigvert, Barcelona, Spain. Martínez-Sopena,MJ Department of Pediatrics, Hospital Clínico, Valladolid, Spain. Valle,J del, García,E Department of Pediatric Endocrinology, Hospital Virgen del Rocío, Sevilla, Spain. Gracia-Bouthelier,R, Lapunzina,P Departments of Pediatric Endocrinology and Genetics, Hospital La Paz, Madrid, Spain. Mayayo,E, Labarta,JI Department of Pediatric Endocrinology, Hospital Infantil Miguel Servet, Zaragoza, Spain. Lledó,G, Sánchez del Pozo,J Department of Pediatric Endocrinology, Hospital 12 de Octubre, Madrid, Spain. Arroyo,J Department of Pediatrics, Complejo Hospitalario de Cáceres, Cáceres, Spain. Pérez-Aytes,A Department of Pediatrics, Hospital Infantil La Fe, Valencia, Spain. Beneyto,M Department of Genetics, Hospital La Fe, Valencia, Spain. Segura,A Department of Urology, Hospital General Universitario de Alicante, Alicante, Spain. Borrás,V Department of Pediatrics, Hospital de Granollers, Granollers, Spain. Gabau,E Department of Genetics, Corporació Hospitalaria Parc Taulí, Sabadell, Spain. Caimarí,M Department of Pediatrics, Hospital Son Dureta, Palma de Mallorca, Spain. Rodríguez,A Department of Pediatrics, Hospital Txagorritxu, Vitoria, Spain. Martínez-Aedo,MJ Department of Pediatric Endocrinology, Hospital Carlos Haya, Málaga, Spain. Carrera,M Centro de Patología Celular CPC, Barcelona, Spain. Castaño,L Research Institute, CIBERER, Instituto de Salud Carlos III, Hospital de Cruces, Bilbao, Spain. Andrade,M Department of Biochemistry, Hospital Xeral CIES, Vigo, Spain. Bermúdez de la Vega,JA Department of Pediatric Endocrinology, Hospital Virgen de la Macarena,Sevilla, Spain., This work was supported by grants from Instituto de Salud Carlos III, Madrid, Spain PI06/0903 and CIBERER (Center for Biomedical Research on Rare Diseases) and from AGAUR (University and Research Management and Evaluation Agency), Barcelona, Spain (SGR02 00042 and SGR05 00908).

    مصطلحات موضوعية: 3-oxo-5-alfa-esteroide 4-deshidrogenasa, Exonas, Disgenesia gonadal 46XY, Heterocigoto, Intrones, Mutación, Receptores de andrógenos, Reacción en cadena de la polimerasa por transcriptasa inversa, Medical Subject Headings::Named Groups::Persons::Age Groups::Adolescent, Medical Subject Headings::Named Groups::Persons::Age Groups::Child, Medical Subject Headings::Named Groups::Persons::Age Groups::Child::Child, Preschool, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Gene Components::Exons, Medical Subject Headings::Check Tags::Female, Medical Subject Headings::Anatomy::Cells::Connective Tissue Cells::Fibroblasts, Medical Subject Headings::Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Urogenital Abnormalities::Disorders of Sex Development::46, XY Disorders of Sex Development::Gonadal Dysgenesis, 46,XY, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype::Heterozygote, Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans, Medical Subject Headings::Named Groups::Persons::Age Groups::Infant, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Gene Components::Introns, Medical Subject Headings::Check Tags::Male, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Phenotype, Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Transcription Factors::Receptors

    وصف الملف: application/pdf

    Relation: http://jcem.endojournals.org/content/95/4/1876.abstract; Audi L, Fernández-Cancio M, Carrascosa A, Andaluz P, Torán N, Piró C, et al. Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development. J. Clin. Endocrinol. Metab. 2010; 95(4):1876-88; http://hdl.handle.net/10668/1323

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    Academic Journal
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    وصف الملف: text

    Relation: https://oceanrep.geomar.de/id/eprint/1465/1/Reston.pdf; Reston, T. J., Ranero, C. R., Ruoff, O., Perez-Gussinye, M. and Danobeitia, J. J. (2004) Geometry of extensional faults developed at slow-spreading centres from seismic reflection data in the Central Atlantic (Canary Basin). Open Access Geophysical Journal International, 159 . pp. 591-606. DOI 10.1111/j.1365-246X.2004.02444.x .

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    Academic Journal

    وصف الملف: text

    Relation: https://oceanrep.geomar.de/id/eprint/7170/7/Perez_Gussiny_2003.pdf; Perez-Gussinye, M., Ranero, C. R., Reston, T. J. and Sawyer, D. (2003) Mechanisms of extension at nonvolcanic margins: Evidence from the Galicia interior basin, west of Iberia. Open Access Journal of Geophysical Research: Solid Earth, 108 (B5). p. 2245. DOI 10.1029/2001JB000901 .

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    المصدر: Articles publicats en revistes (Ciències Clíniques)

    وصف الملف: 9 p.; application/pdf

    Relation: Reproducció digital del document publicat en format paper; Revista de Psiquiatría de la Facultad de Medicina de Barcelona., 1992, vol. 19, num. 4, p. 139-147; http://hdl.handle.net/2445/100362; 103669

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