Zobrazeno 1 - 10
of 74 206
pro vyhledávání: '"RARE DISEASES"'
Autor:
Rius A; Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires (FCEyN-UBA) e Instituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET, Pabellón 2 de Ciudad Universitaria, Ciudad de Buenos Aires C1428EHA, Argentina. Electronic address: anaflorazul@gmail.com., Aguirre N; Bitgenia, Análisis de Datos Genómicos, Camino Parque Centenario N° 2565 - La Plata, Alicia Moreau de Justo N° 1750 3° H - CABA, Buenos Aires, Argentina., Erra L; Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires (FCEyN-UBA) e Instituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET, Pabellón 2 de Ciudad Universitaria, Ciudad de Buenos Aires C1428EHA, Argentina., Brunello FG; Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires (FCEyN-UBA) e Instituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET, Pabellón 2 de Ciudad Universitaria, Ciudad de Buenos Aires C1428EHA, Argentina., Biagioli G; Bitgenia, Análisis de Datos Genómicos, Camino Parque Centenario N° 2565 - La Plata, Alicia Moreau de Justo N° 1750 3° H - CABA, Buenos Aires, Argentina., Zaiat J; Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires (FCEyN-UBA) e Instituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET, Pabellón 2 de Ciudad Universitaria, Ciudad de Buenos Aires C1428EHA, Argentina., Marti MA; Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires (FCEyN-UBA) e Instituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET, Pabellón 2 de Ciudad Universitaria, Ciudad de Buenos Aires C1428EHA, Argentina.
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2025 Jan 30; Vol. 566, pp. 120065. Date of Electronic Publication: 2024 Nov 29.
Autor:
Ogloblinsky MC; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Bocher O; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Institute of Translational Genomics, Helmholtz Zentrum München, Munich, Germany., Aloui C; Inserm, NeuroDiderot, Unité Mixte de Recherche, Université Paris Cité, Paris, France., Leutenegger AL; Inserm, NeuroDiderot, Unité Mixte de Recherche, Université Paris Cité, Paris, France., Ozisik O; INSERM, Marseille Medical Genetics (MMG), Aix Marseille University, Marseille, France., Baudot A; INSERM, Marseille Medical Genetics (MMG), Aix Marseille University, Marseille, France., Tournier-Lasserve E; Inserm, NeuroDiderot, Unité Mixte de Recherche, Université Paris Cité, Paris, France.; Assistance Publique-Hôpitaux de Paris, Service de Génétique Moléculaire Neurovasculaire, Hôpital Saint-Louis, Paris, France., Castillo-Madeen H; Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Portland, Oregon, USA., Lewinsohn D; Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Portland, Oregon, USA., Conrad DF; Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Portland, Oregon, USA., Génin E; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Centre Hospitalier Régional Universitaire de Brest, Brest, France., Marenne G; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.
Publikováno v:
Genetic epidemiology [Genet Epidemiol] 2025 Jan; Vol. 49 (1), pp. e22593. Date of Electronic Publication: 2024 Sep 24.
Autor:
Dumbuya JS; Department of Paediatrics, Affiliated Hospital of Guangdong Medical University, Zhanjiang, 524002, China., Ahmad B; Department of Paediatrics, Affiliated Hospital of Guangdong Medical University, Zhanjiang, 524002, China., Zeng C; Department of Paediatrics, Affiliated Hospital of Guangdong Medical University, Zhanjiang, 524002, China., Chen X; Haikou Affiliated Hospital of Xiangya Medical College, Central South University, Haikou, 570208, China., Lu J; Department of Paediatrics, Affiliated Hospital of Guangdong Medical University, Zhanjiang, 524002, China. lu139762@163.com.
Publikováno v:
Health and quality of life outcomes [Health Qual Life Outcomes] 2024 Dec 19; Vol. 22 (1), pp. 108. Date of Electronic Publication: 2024 Dec 19.
Autor:
Wlodkowski T; Zentrum für Kinder und Jugendmedizin, Sektion Pädiatrische Nephrologie, Universitätsklinikum Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Deutschland. tanja.wlodkowski@med.uni-heidelberg.de., Haeberle S; Zentrum für Kinder und Jugendmedizin, Sektion Pädiatrische Nephrologie, Universitätsklinikum Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Deutschland., Schaefer F; Zentrum für Kinder und Jugendmedizin, Sektion Pädiatrische Nephrologie, Universitätsklinikum Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Deutschland.
Publikováno v:
Innere Medizin (Heidelberg, Germany) [Inn Med (Heidelb)] 2024 Dec; Vol. 65 (12), pp. 1283-1292. Date of Electronic Publication: 2024 Nov 13.
Autor:
Liu ITT; Program On Regulation, Therapeutics, and Law (PORTAL), Division of Pharmacoepidemiology and Pharmacoeconomics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA. Electronic address: akesselheim@bwh.harvard.edu., Kesselheim AS; Program On Regulation, Therapeutics, and Law (PORTAL), Division of Pharmacoepidemiology and Pharmacoeconomics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA.
Publikováno v:
The Journal of pediatrics [J Pediatr] 2024 Dec; Vol. 275, pp. 114211. Date of Electronic Publication: 2024 Jul 24.
Autor:
Willmen L; Department of Nephrology, Hannover Medical School, Hanover, Germany., Völkel L; Department of Nephrology, Hannover Medical School, Hanover, Germany., Willmen T; Clinic of Prosthetic Dentistry and Biomedical Materials Science, Hannover Medical School, Hanover, Germany., Deckersbach T; Department of Psychology, DIPLOMA University, Bad Sooden-Allendorf, Germany., Geyer S; Department of Medical Sociology, Hannover Medical School, Hanover, Germany., Wagner AD; Department of Nephrology, Hannover Medical School, Hanover, Germany. wagner.annette@mh-hannover.de.
Publikováno v:
BMC health services research [BMC Health Serv Res] 2024 Nov 12; Vol. 24 (1), pp. 1388. Date of Electronic Publication: 2024 Nov 12.
Autor:
Vásquez P; Centre for Health Services Research, Faculty of Medicine, The University of Queensland, Brisbane, QLD, Australia. Electronic address: paolandreavasquezv@gmail.com., Hall L; School of Public Health, Faculty of Medicine, The University of Queensland, Brisbane, QLD, Australia., Merlo G; Healthcare Improvement Unit, Clinical Excellence Queensland, Queensland Health, Brisbane, QLD, Australia.
Publikováno v:
Value in health regional issues [Value Health Reg Issues] 2024 Nov; Vol. 44, pp. 101026. Date of Electronic Publication: 2024 Jul 25.
Autor:
Lewek J; Department of Preventive Cardiology and Lipidology, Medical University of Lodz (MUL), Lodz, Poland; Department of Cardiology and Adult Congenital Heart Diseases, Polish Mother's Memorial Hospital Research Institute (PMMHRI), Lodz, Poland., Sosnowska B; Department of Preventive Cardiology and Lipidology, Medical University of Lodz (MUL), Lodz, Poland., Starostecka E; Regional Rare Disease Centre, Polish Mother's Memorial Hospital Research Institute (PMMHRI), Lodz, Poland., Konopka A; Regional Rare Disease Centre, Polish Mother's Memorial Hospital Research Institute (PMMHRI), Lodz, Poland., Gach A; Department of Genetics, Polish Mother's Memorial Hospital Research Institute (PMMHRI), Lodz, Poland., Rutkowska L; Department of Genetics, Polish Mother's Memorial Hospital Research Institute (PMMHRI), Lodz, Poland., Adach W; Department of Preventive Cardiology and Lipidology, Medical University of Lodz (MUL), Lodz, Poland., Mierczak K; Department of Preventive Cardiology and Lipidology, Medical University of Lodz (MUL), Lodz, Poland., Bielecka-Dąbrowa A; Department of Preventive Cardiology and Lipidology, Medical University of Lodz (MUL), Lodz, Poland; Department of Cardiology and Adult Congenital Heart Diseases, Polish Mother's Memorial Hospital Research Institute (PMMHRI), Lodz, Poland., Banach M; Department of Preventive Cardiology and Lipidology, Medical University of Lodz (MUL), Lodz, Poland; Department of Cardiology and Adult Congenital Heart Diseases, Polish Mother's Memorial Hospital Research Institute (PMMHRI), Lodz, Poland. Electronic address: maciej.banach@iczmp.edu.pl.
Publikováno v:
International journal of cardiology [Int J Cardiol] 2025 Jan 15; Vol. 419, pp. 132667. Date of Electronic Publication: 2024 Oct 22.
Autor:
Sheikh Hassani M; Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, United Arab Emirates., Jain R; Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, United Arab Emirates., Ramaswamy S; Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, United Arab Emirates., Sinha S; Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, United Arab Emirates., El Naofal M; Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, United Arab Emirates., Halabi N; Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, United Arab Emirates., Alyafei S; Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, United Arab Emirates., Alfalasi R; Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, United Arab Emirates., Shenbagam S; Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, United Arab Emirates., Taylor A; Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, United Arab Emirates., Abou Tayoun A; Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, United Arab Emirates.; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, United Arab Emirates.
Publikováno v:
Clinical chemistry [Clin Chem] 2025 Jan 03; Vol. 71 (1), pp. 169-184.
Autor:
Laskowski NM; Population, Policy and Practice, UCL Great Ormond Street Institute of Child Health, London, UK.; School of Medicine, Cardiff University, Cardiff, UK., Clarke A; Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK., Patch C; Engagement and Society, Wellcome Connecting Science, Wellcome Genome Campus, Hinxton, UK., Pichini A; Genomics England, London, UK., Hill M; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital, London, UK.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK., Whyte S; North East Thames Clinical Genetics Service, Great Ormond Street Hospital, London, UK.; Department of Clinical Genetics, Children's Health Ireland at Crumlin, Dublin, Ireland., Lewis C; Population, Policy and Practice, UCL Great Ormond Street Institute of Child Health, London, UK.; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital, London, UK.
Publikováno v:
Public health genomics [Public Health Genomics] 2025; Vol. 28 (1), pp. 1-18. Date of Electronic Publication: 2024 Nov 08.