يعرض 1 - 10 نتائج من 90 نتيجة بحث عن '"DISEASES::Congenital"', وقت الاستعلام: 0.99s تنقيح النتائج
  1. 1
    دورية أكاديمية

    المساهمون: Institut Català de la Salut, Vall d'Hebron Barcelona Hospital Campus

    المصدر: Scientia

    وصف الملف: application/pdf

    العلاقة: European Heart Journal - Case Reports;8(6); https://doi.org/10.1093/ehjcr/ytae190Test; Rifé-Pardo È, Rello P, Sambola A, Gordon B. Successful thromboaspiration of bilateral pulmonary thromboembolism in a Fontan circulation patient: a case report. Eur Hear J - Case Reports. 2024 Jun 24;8(6):ytae190.; https://hdl.handle.net/11351/11650Test

  2. 2
    دورية أكاديمية

    المساهمون: Institut Català de la Salut, Caballero T Allergy department, Hospital Universitario La Paz, Madrid, Spain. Hospital La Paz Institute for Health Research (IdiPAZ), Madrid, Spain. Biomedical Research Network on Rare Diseases (CIBERER U754), Madrid, Spain. Alonso C Nursing department, Complejo Hospitalario Universitario de Vigo, Vigo, Pontevedra, Spain. Baeza ML Allergy department, Complejo Hospitalario Universitario de Vigo, Vigo, Pontevedra, Spain. Biomedical Research Network on Rare Diseases U761 (CIBERER), Madrid, Spain. Baynova K Allergy department, Hospital Universitario Virgen del Rocío, Madrid, Spain. Cabeza J Hospital Pharmacy, Hospital Universitario Clínico San Cecilio, Granada, Spain. Cortés I Market Access, CSL Behring, Barcelona, Spain. Guilarte M Servei d’Al·lergologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

    المصدر: Scientia

    وصف الملف: application/pdf

    العلاقة: Orphanet Journal of Rare Diseases;19(1); https://doi.org/10.1186/s13023-024-03182-1Test; Caballero T, Alonso C, Baeza ML, Baynova K, Cabeza J, Cortés I, et al. Hereditary angioedema in Spain: medical care and patient journey. Orphanet J Rare Dis. 2024 May 21;19(1):210.; https://hdl.handle.net/11351/11508Test

  3. 3
    دورية أكاديمية

    المساهمون: Institut Català de la Salut, Rofes P, Dueñas N, del Valle J Hereditary Cancer Program, Catalan Institute of Oncology, Molecular Mechanisms and Experimental Therapy in Oncology Program, Institut d'Investigació Biomèdica de Bellvitge – IDIBELL, L'Hospitalet de Llobregat, Spain. Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain. Navarro M Hereditary Cancer Program, Catalan Institute of Oncology, Molecular Mechanisms and Experimental Therapy in Oncology Program, Institut d'Investigació Biomèdica de Bellvitge – IDIBELL, L'Hospitalet de Llobregat, Spain. Balmaña J Hereditary Cancer Genetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Ramón y Caja T Medical Oncology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

    المصدر: Scientia

    وصف الملف: application/pdf

    العلاقة: Cancer Medicine;13(7); https://doi.org/10.1002/cam4.7041Test; Rofes P, Dueñas N, del Valle J, Navarro M, Balmaña J, Ramón y Cajal T, et al. Tumor analysis of MMR genes in Lynch-like syndrome: Challenges associated with results interpretation. Cancer Med. 2024 Apr 1;13(7):e7041.; https://hdl.handle.net/11351/11300Test; 001194464900001

  4. 4
    دورية أكاديمية

    المساهمون: Institut Català de la Salut, Gil-Serrano J, Labrador-Horrillo M, Sala-Cunill A, Luengo O, Guilarte M Servei d’Al·lergologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Malalties Sistèmiques, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Departament de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain. Galvan-Blasco P, Bigas P, Pereira-González J, Cardona V Servei d’Al·lergologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Malalties Sistèmiques, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

    المصدر: Scientia

    وصف الملف: application/pdf

    العلاقة: Frontiers in Immunology;15; https://doi.org/10.3389/fimmu.2024.1400526Test; info:eu-repo/grantAgreement/ES/PE2017-2020/PI20%2F01061; Gil-Serrano J, Labrador-Horrillo M, Galvan-Blasco P, Sala-Cunill A, Bigas P, Pereira-Gonzá lez J, et al. Systemic inflammation biomarkers during angioedema attacks in hereditary angioedema. Front Immunol. 2024 Jun 17;15:1400526.; https://hdl.handle.net/11351/11675Test

  5. 5
    دورية أكاديمية

    المساهمون: Institut Català de la Salut, Rodríguez-Blanque R Research Group CTS1068, Andalusia Research Plan, Junta de Andalucía, Granada, Spain. San Cecilio University Hospital, Granada, Spain. Nursing Department, Faculty of Health Sciences, University of Granada, Granada, Spain. Almazán-Soto C Vall d’Hebron Hospital Universitari, Barcelona, Spain. Piqueras-Sola B Research Group CTS1068, Andalusia Research Plan, Junta de Andalucía, Granada, Spain. Hospital University Virgen de las Nieves, Granada, Spain. Sánchez-García JC Research Group CTS1068, Andalusia Research Plan, Junta de Andalucía, Granada, Spain. Nursing Department, Faculty of Health Sciences, University of Granada, Granada, Spain. Reinoso-Cobo A Department of Nursing and Podiatry, Faculty of Health Sciences, University of Malaga, Ampliación de Campus de Teatinos, Malaga, Spain. Menor-Rodríguez MJ Área Sanitaria Santiago de Compostela-Barbanza, Subdirección de Humanización y Atención a la Ciudadanía, Santiago de Compostela, Spain, Vall d'Hebron Barcelona Hospital Campus

    المصدر: Scientia

    وصف الملف: application/pdf

    العلاقة: Journal of Clinical Medicine;12(20); https://doi.org/10.3390/jcm12206694Test; Rodríguez-Blanque R, Almazán-Soto C, Piqueras-Sola B, Sánchez-García JC, Reinoso-Cobo A, Menor-Rodríguez MJ, et al. Chiari Syndrome: Advances in Epidemiology and Pathogenesis: A Systematic Review. J Clin Med. 2023 Oct 23;12(20):6694.; https://hdl.handle.net/11351/10758Test; 001093694200001

  6. 6
    دورية أكاديمية

    المساهمون: Institut Català de la Salut, Burballa C Departamento de Nefrología, Hospital del Mar, Barcelona, Spain. Duran M, Cantero-Recasens G Grup de Fisiopatologia Renal, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Martínez Grup de Fisiopatologia Renal, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Grupo de Investigación Traslacional Vascular y Renal, IRB-Lleida, Lérida, Spain. Ariceta G Servei de Nefrologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Departament de Bioquímica i Biologia Molecular, Unitat de Bioquímica de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain. Meseguer A Grup de Fisiopatologia Renal, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Departament de Bioquímica i Biologia Molecular, Unitat de Bioquímica de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain, Vall d'Hebron Barcelona Hospital Campus

    المصدر: Scientia

    وصف الملف: application/pdf

    العلاقة: Nefrología;43; https://doi.org/10.1016/j.nefro.2023.06.005Test; Burballa C, Duran M, Martínez C, Ariceta G, Cantero-Recasens G, Meseguer A. Aislamiento y caracterización de vesículas extracelulares enriquecidas en exosomas en pacientes españoles con enfermedad de Dent. Nefrología. 2023 Dec;43:76–83.; https://hdl.handle.net/11351/10888Test

  7. 7
    دورية أكاديمية

    المساهمون: Institut Català de la Salut, Werfel L Department of Human Genetics, Hannover Medical School, Hannover, Germany. Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany. Martens H Department of Human Genetics, Hannover Medical School, Hannover, Germany. Hennies I, Fröde K Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany. Gjerstad AC Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway. Altarescu G Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel. Valenzuela Palafoll I Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

    المصدر: Scientia

    وصف الملف: application/pdf

    العلاقة: Kidney International Reports;8(11); https://doi.org/10.1016/j.ekir.2023.08.008Test; Werfel L, Martens H, Hennies I, Gjerstad AC, Fröde K, Altarescu G, et al. Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life. Kidney Int Reports. 2023 Nov;8(11):2439–57.; https://hdl.handle.net/11351/10741Test; 001109004400001

  8. 8
    دورية أكاديمية

    المساهمون: Institut Català de la Salut, Moncho D Servei de Neurofisiologia Clínica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Unitat de Recerca en Neurotraumatologia i Neurocirurgia (UNINN), Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Poca MA, Sahuquillo J Unitat de Recerca en Neurotraumatologia i Neurocirurgia (UNINN), Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Servei de Neurocirurgia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Servei de Cirurgia, Universitat Autònoma de Barcelona, Bellaterra, Spain. Rahnama K, Sánchez Roldán MÁ, Santa-Cruz D Servei de Neurofisiologia Clínica, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

    المصدر: Scientia

    وصف الملف: application/pdf

    العلاقة: Journal of Clinical Medicine;12(20); https://doi.org/10.3390/jcm12206472Test; info:eu-repo/grantAgreement/ES/PEICTI2021-2023/PI22%2F01082; Moncho D, Poca MA, Rahnama K, Sánchez Roldán MÁ, Santa-Cruz D, Sahuquillo J. The Role of Neurophysiology in Managing Patients with Chiari Malformations. J Clin Med. 2023 Oct 11;12(20):6472.; https://hdl.handle.net/11351/10586Test

  9. 9
    دورية أكاديمية

    المساهمون: Institut Català de la Salut, Baum MA Division of Nephrology, Boston Children’s Hospital, Boston, Massachusetts, USA. Langman C Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA. Cochat P Reference Centre for Rare Renal Diseases, Hôpital Femme Mère Enfant, Lyon, France. Lieske JC Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA. Moochhala SH UCL Department of Renal Medicine, Royal Free Hospital, London, UK. Hamamoto S Department of Nephro-urology, Nagoya City University, Nagoya, Japan. Ariceta G Servei de Nefrologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

    المصدر: Scientia

    وصف الملف: application/pdf

    العلاقة: Kidney International;103(1); https://doi.org/10.1016/j.kint.2022.07.025Test; Baum MA, Langman C, Cochat P, Lieske JC, Moochhala SH, Hamamoto S, et al. PHYOX2: A Pivotal Randomized Study of Nedosiran in Primary Hyperoxaluria Type 1 or 2. Kidney Int. 2023 Jan;103(1):207-17.; https://hdl.handle.net/11351/8992Test

  10. 10
    دورية أكاديمية

    المساهمون: Institut Català de la Salut, Ariceta G Vall d’Hebron Hospital Universitari, Barcelona, Spain. Collard L Centre Hospitalier Umniversitaire de Liege, Liege, Belgium. Abroug S Hôpital Universitaire Sahloul, Sousse, Tunisia. Moochhala SH Royal Free Hospital, London, UK. Gould E Vanderbilt University Hospital, Nashville, USA. Boussetta A Charles Nicolle University Hospital, Tunis, Tunisia. Fraga G Vall d’Hebron Hospital Universitari, Barcelona, Spain. Hospital Sant Pau, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

    المصدر: Scientia

    وصف الملف: application/pdf

    العلاقة: Pediatric Nephrology;38(2); https://doi.org/10.1007/s00467-022-05591-5Test; Ariceta G, Collard L, Abroug S, Moochhala SH, Gould E, Boussetta A, et al. ePHex: a phase 3, double-blind, placebo-controlled, randomized study to evaluate long-term efficacy and safety of Oxalobacter formigenes in patients with primary hyperoxaluria. Pediatr Nephrol. 2023 Feb;38(2):403–15.; https://hdl.handle.net/11351/8962Test; 000794091100003