Zobrazeno 1 - 10
of 484
pro vyhledávání: '"Julkowska, D."'
Autor:
Landi A; Fondazione per la Ricerca Farmacologica Gianni Benzi Onlus, Bari, Italy., Mimouni Y; European Joint Programme on Rare Diseases Coordination, INSERM, Paris, France., Giannuzzi V; Fondazione per la Ricerca Farmacologica Gianni Benzi Onlus, Bari, Italy., Schaefer F; Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University of Heidelberg, Heidelberg, Germany., Altavilla A; Teddy European Network of Excellence for Paediatric Research, Pavia, Italy.; Espace Ethique PACA-Corse Assistance Publique - Hôpitaux de Marseille (AP-HM), Hôpital de la Timone, Marseille, France., Gibson S; Department of Genetics and Genome Biology, University of Leicester, Leicester, United Kingdom., Julkowska D; European Joint Programme on Rare Diseases Coordination, INSERM, Paris, France.
Publikováno v:
Frontiers in medicine [Front Med (Lausanne)] 2024 Apr 17; Vol. 11, pp. 1384026. Date of Electronic Publication: 2024 Apr 17 (Print Publication: 2024).
Autor:
Baynam G; Rare Care Centre and Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Western Australia, Australia. gareth.baynam@health.wa.gov.au.; Faculty of Health and Medicine, Division of Pediatrics, University of Western Australia, Perth, Western Australia, Australia. gareth.baynam@health.wa.gov.au.; Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia. gareth.baynam@health.wa.gov.au.; Faculty of Medicine, University of Notre Dame, Fremantle, Western Australia, Australia. gareth.baynam@health.wa.gov.au.; Faculty of Science and Engineering, Spatial Sciences, Curtin University, Perth, Western Australia, Australia. gareth.baynam@health.wa.gov.au.; Faculty of Medicine, Notre Dame University, Perth, Western Australia, Australia. gareth.baynam@health.wa.gov.au.; School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia. gareth.baynam@health.wa.gov.au., Julkowska D; IRDiRC Scientific Secretariat, French National Institute of Health and Medical Research (Inserm), Paris, France., Bowdin S; Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge, UK., Hermes A; National Centre for Indigenous Genomics, Australian National University, Canberra, Australian Capital Territory, Australia., McMaster CR; Department of Pharmacology, Dalhousie University, Halifax, Nova Scotia, Canada.; Institute of Genetics, Canadian Institutes of Health Research, Halifax, Nova Scotia, Canada., Prichep E; Platform on Shaping the Future of Health and Healthcare, World Economic Forum, New York, NY, USA., Richer É; Institute of Genetics, Canadian Institutes of Health Research, Halifax, Nova Scotia, Canada., van der Westhuizen FH; Human Metabolomics, North-West University, Potchefstroom, South Africa., Repetto GM; Facultad de Medicina, Center for Genetics and Genomics, Clinica Alemana Universidad del Desarrollo, Santiago, Chile., Malherbe H; Department of Biochemistry, Genetics and Microbiology, University of Pretoria, Pretoria, South Africa.; Rare Diseases South Africa, Johannesburg, South Africa., Reichardt JKV; Australian Institute of Tropical Health and Medicine, James Cook University, Smithfield, Queensland, Australia., Arbour L; Department of Medical Genetics, University of British Columbia, Victoria, British Columbia, Canada., Hudson M; Faculty of Maori and Indigenous Studies, University of Waikato, Hamilton, New Zealand., du Plessis K; Rare Diseases South Africa, Johannesburg, South Africa., Haendel M; Oregon Clinical and Translational Research Institute, Oregon Health and Science University, Portland, OR, USA., Wilcox P; Department of Mathematics and Statistics, University of Otago, Dunedin, New Zealand., Lynch SA; National Rare Disease Office, Mater Misericordiae University Hospital, Dublin, Ireland.; Academic Centre on Rare Diseases, University College Dublin, Dublin, Ireland., Rind S; Western Australian Register of Developmental Anomalies, Perth, Western Australia, Australia., Easteal S; National Centre for Indigenous Genomics, Australian National University, Canberra, Australian Capital Territory, Australia., Estivill X; Quantitative Genomics Medicine Laboratories (qgenomics), Esplugues de Llobregat, Barcelona, Spain., Caron N; UBC Centre for Excellence in Indigenous Health, Vancouver, British Columbia, Canada.; UBC Northern Medical Program and Department of Surgery, Prince George, British Columbia, Canada., Chongo M; UBC Centre for Excellence in Indigenous Health, Vancouver, British Columbia, Canada., Thomas Y; Western Australian Register of Developmental Anomalies, Perth, Western Australia, Australia., Letinturier MCV; IRDiRC Scientific Secretariat, French National Institute of Health and Medical Research (Inserm), Paris, France., Vorster BC; Centre for Human Metabolomics, North-West University, Capetown, South Africa.
Publikováno v:
Nature genetics [Nat Genet] 2024 Feb; Vol. 56 (2), pp. 189-193.
Autor:
Beaverson KL; Pfizer, Inc, Cambridge, MA, USA., Julkowska D; IRDiRC Scientific Secretariat, French National Institute of Health and Medical Research (Inserm), Paris, France., Letinturier MCV; IRDiRC Scientific Secretariat, French National Institute of Health and Medical Research (Inserm), Paris, France., Aartsma-Rus A; Leiden University Medical Center, Leiden, The Netherlands., Austin J; GlobalSkin - International Alliance of Dermatology Patient Organizations, Ottawa, ON, Canada., Bueren J; The Center for Energy, Environmental, and Technological Research (CIEMAT), Madrid, Spain., Frost S; Tiber Capital Group, Mc Lean, VA, USA., Hamamura M; Takeda Japan, Chuo-ku, Tokyo, Japan., Larkindale J; PepGen, Cambridge, MA, USA., LaRosa G; Pfizer, Inc, Cambridge, MA, USA., Magenheim R; BioNTech, Mainz, Germany., Merico A; Fondazione Telethon, Rome, Italy., Pasmooij AMG; Medicines Evaluation Board (CBG/MEB), Utrecht, The Netherlands., Pirard V; Sanofi, Etterbeek, Belgium., Ekow Thomford N; Pharmacogenomics and Genomic Medicine Group & Lab, School of Medical Sciences, CoHAS, University of Cape Coast, Cape Coast, Ghana Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Rondesbosch, South Africa., Wada M; Keio University Hospital, Shinjuku City, Tokyo, Japan., Wong-Rieger D; Canadian Organization for Rare Disorders, Toronto, ON, Canada., Hartman AL; National Institute of Neurological Disorders and Stroke, National Institutes of Health, 6001 Executive Blvd., Rockville, MD 20852, USA.
Publikováno v:
Therapeutic advances in rare disease [Ther Adv Rare Dis] 2023 Jul 29; Vol. 4, pp. 26330040231188979. Date of Electronic Publication: 2023 Jul 29 (Print Publication: 2023).
Autor:
Nabbout R; Department of Pediatric Neurology, Reference Center for Rare Epilepsies, Hôpital Necker-Enfants Malades, APHP, member of ERN EPICARE, Institut Imagine, INSERM U1163, Université Paris Cité, Paris, France. rima.nabbout@aphp.fr., Zanello G; Institut National de la Santé et de la Recherche Médicale, Paris, France., Baker D; Martin, Blanck, and Associates, Arlington, VA, USA., Black L; Sanford Research, Sioux Falls, SD, USA., Brambilla I; Dravet Italia Onlus Italy - ePAG EpiCARE, Verone, Italy., Buske OJ; PhenoTips, Toronto, ON, Canada., Conklin LS; ReveraGen BioPharma, Rockville, MD, USA., Davies EH; Aparito Limited, Metabolic Support UK, Wrexham, UK., Julkowska D; Institut National de la Santé et de la Recherche Médicale, Paris, France., Kim Y; Korea Disease Control and Prevention Agency, Cheongju-si, Chungcheongbuj-do, Korea., Klopstock T; Friedrich-Baur-Institute, Department of Neurology, LMU Klinikum, Ludwig-Maximilians-Universität München, Ziemssenstr. 1, 80336, Munich, Germany., Nakamura H; Department of Clinical Research Support, Clinical Research and Education Promotion Division, National Center of Neurology and Psychiatry, Tokyo, Japan., Nielsen KG; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Pariser AR; Alltrna, Cambridge, MA, USA., Pastor JC; IOBA (Eye Institute), University of Valladolid, Valladolid, Spain., Scarpa M; Regional Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy.; European Reference Network. For Hereditary Metabolic Diseases (MetabERN), Dublin, Ireland., Smith M; Canadian Organization for Rare Disorders, Toronto, ON, Canada., Taruscio D; National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy., Groft S; Division of Rare Diseases Research Innovation, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 May 09; Vol. 18 (1), pp. 109. Date of Electronic Publication: 2023 May 09.
Autor:
Julkowska, D, Austin, C P, Cutillo, C M, Gancberg, D, Hager, C, Halftermeyer, J, Jonker, A H, Lau, L P L, Norstedt, I, Rath, A, Schuster, R, Simelyte, E, van Weely, S
Publikováno v:
Gene Therapy
Over the last two decades, important contributions were made at national, European and international levels to foster collaboration into rare diseases research. The European Union (EU) has put much effort into funding rare diseases research, encourag
Autor:
Monaco L, Zanello G, Baynam G, Jonker AH, Julkowska D, Hartman AL, O'Connor D, Wang CM, Wong-Rieger D, Pearce DA
Publikováno v:
Nature reviews. Drug discovery [Nat Rev Drug Discov] 2022 May; Vol. 21 (5), pp. 319-320.
Autor:
Ou, Peiling1 (AUTHOR), Wen, Ru1 (AUTHOR), Shi, Linfeng1 (AUTHOR), Wang, Jian1 (AUTHOR), Liu, Chen1 (AUTHOR) liuchen@aifmri.com
Publikováno v:
Orphanet Journal of Rare Diseases. 9/13/2024, Vol. 19 Issue 1, p1-10. 10p.
Autor:
Wang, Chiuhui Mary1 (AUTHOR) mary.wang@rarediseasesint.org, Whiting, Amy Heagle1 (AUTHOR), Rath, Ana2 (AUTHOR), Anido, Roberta3 (AUTHOR), Ardigò, Diego4 (AUTHOR), Baynam, Gareth5 (AUTHOR), Dawkins, Hugh6 (AUTHOR), Hamosh, Ada7 (AUTHOR), Le Cam, Yann8 (AUTHOR), Malherbe, Helen9,10 (AUTHOR), Molster, Caron M.11 (AUTHOR), Monaco, Lucia12 (AUTHOR), Padilla, Carmencita D.13 (AUTHOR), Pariser, Anne R.12 (AUTHOR), Robinson, Peter N.14 (AUTHOR), Rodwell, Charlotte2 (AUTHOR), Schaefer, Franz15 (AUTHOR), Weber, Stefanie16 (AUTHOR), Macchia, Flaminia1 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 9/11/2024, Vol. 19 Issue 1, p1-6. 6p.
Autor:
Aldosari, Abdullah Nasser1 Dr.anad@outlook.sa, Aldosari, T. Saeed2
Publikováno v:
Clinical & Experimental Pediatrics. Sep2024, Vol. 67 Issue 9, p435-446. 12p.
Autor:
Alotaibi, Hawazin1,2, Anis, Amna M.3,4, Alloghbi, Abdurahman5 alloghbi@kku.edu.sa, Alshammari, Kanan6
Publikováno v:
Journal of Immunotherapy & Precision Oncology. Aug2024, Vol. 7 Issue 3, p178-189. 12p.