Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Bounford KM"'
Autor:
Jeyaraj R; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, University College London, London WC1N 1EH, UK., Bounford KM; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK., Ruth N; Institute of Immunology and Immunotherapy, University of Birmingham, Birmingham B15 2TT, UK.; Liver Unit, Birmingham Women's and Children's Hospital, Birmingham B4 6NH, UK., Lloyd C; Liver Unit, Birmingham Women's and Children's Hospital, Birmingham B4 6NH, UK., MacDonald F; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham B15 2TG, UK., Hendriksz CJ; Steve Biko Academic Unit, Level D3 New Pretoria Academic Hospital, Malherbe Street, Pretoria 0002, South Africa., Baumann U; Institute of Immunology and Immunotherapy, University of Birmingham, Birmingham B15 2TT, UK.; Paediatric Gastroenterology and Hepatology, Hannover Medical School, 30625 Hannover, Germany., Gissen P; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, University College London, London WC1N 1EH, UK., Kelly D; Institute of Immunology and Immunotherapy, University of Birmingham, Birmingham B15 2TT, UK.; Liver Unit, Birmingham Women's and Children's Hospital, Birmingham B4 6NH, UK.
Publikováno v:
Genes [Genes (Basel)] 2021 Nov 21; Vol. 12 (11). Date of Electronic Publication: 2021 Nov 21.
Autor:
Baruteau J; Gene Transfer Technology Group, Institute for Women's Health, University College London, London, UK. julien.baruteau@gosh.nhs.uk.; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, WC1N 3JH, London, UK. julien.baruteau@gosh.nhs.uk.; Genetics and Genomic Medicine Programme, Great Ormond Street Institute of Child Health, University College London, London, UK. julien.baruteau@gosh.nhs.uk., Jameson E; Metabolic Medicine Department, Royal Manchester Children Hospital NHS Foundation Trust, Manchester, UK., Morris AA; Metabolic Medicine Department, Royal Manchester Children Hospital NHS Foundation Trust, Manchester, UK., Chakrapani A; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, WC1N 3JH, London, UK.; Metabolic Medicine Department, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK., Santra S; Metabolic Medicine Department, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK., Vijay S; Metabolic Medicine Department, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK., Kocadag H; Gene Transfer Technology Group, Institute for Women's Health, University College London, London, UK., Beesley CE; North East Thames Regional Genetic Services, Great Ormond Street Hospital NHS Foundation Trust, London, UK., Grunewald S; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, WC1N 3JH, London, UK., Murphy E; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK., Cleary M; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, WC1N 3JH, London, UK., Mundy H; Metabolic Medicine Department, Evelina Children's Hospital, London, UK., Abulhoul L; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, WC1N 3JH, London, UK., Broomfield A; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, WC1N 3JH, London, UK.; Metabolic Medicine Department, Royal Manchester Children Hospital NHS Foundation Trust, Manchester, UK., Lachmann R; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK., Rahman Y; Metabolic Medicine Department, St Thomas Hospital, London, UK., Robinson PH; Paediatric Metabolic Medicine, Royal Hospital for Sick Children, Glasgow, UK., MacPherson L; Neuroradiology Department, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK., Foster K; Neuroradiology Department, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK., Chong WK; Neuroradiology Department, Great Ormond Street Hospital NHS Foundation Trust, London, UK., Ridout DA; Population, Policy and Practice Programme, UCL Institute of Child Health, London, UK., Bounford KM; West Midlands Regional Genetic Laboratory, Birmingham Women's Hospital, Birmingham, UK., Waddington SN; Gene Transfer Technology Group, Institute for Women's Health, University College London, London, UK.; Wits/SAMRC Antiviral Gene Therapy Research Unit, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa., Mills PB; Genetics and Genomic Medicine Programme, Great Ormond Street Institute of Child Health, University College London, London, UK., Gissen P; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, WC1N 3JH, London, UK.; Genetics and Genomic Medicine Programme, Great Ormond Street Institute of Child Health, University College London, London, UK.; MRC Laboratory for Molecular Cell Biology, University College London, London, UK., Davison JE; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, WC1N 3JH, London, UK.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2017 May; Vol. 40 (3), pp. 357-368. Date of Electronic Publication: 2017 Mar 01.
Autor:
Topak, Ali1 at204986@hotmail.com
Publikováno v:
European Research Journal. Nov2023, Vol. 9 Issue 6, p1438-1443. 6p.
Autor:
Mighiu, Claudia1 (AUTHOR) claudia.mighiu@hcdeconomics.com, O'Hara, Sonia1 (AUTHOR), Ferri Grazzi, Enrico1 (AUTHOR), Murray, Karen F.2 (AUTHOR), Schattenberg, Jörn M.3 (AUTHOR), Ventura, Emily4 (AUTHOR), Karakaidos, Melanie4 (AUTHOR), Taylor, Alison5 (AUTHOR), Brrang, Harpreet5 (AUTHOR), Dhawan, Anil6 (AUTHOR), Willemse, Jose7 (AUTHOR), Finnegan, Alan8 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 2/2/2022, Vol. 17 Issue 1, p1-9. 9p.
Autor:
Vogel GF; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Institute of Cell Biology, Medical University of Innsbruck, Innsbruck, Austria., Podpeskar A; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Rieder D; Division of Bioinformatics, Medical University of Innsbruck, Innsbruck, Austria., Salzer H; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Garczarczyk-Asim D; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Wang L; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China., Abuduxikuer K; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China., Wang JS; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China., Scharrer A; Department of Pathology, Medical University Vienna, Vienna, Austria., Faqeih EA; Section of Medical Genetics, King Fahad Medical City, Children's Specialist Hospital, Riyadh, Kingdom of Saudi Arabia., Aseeri AT; Section of Gastroenterology and Hepatology, King Fahad Medical City, Children's Specialist Hospital, Riyadh, Kingdom of Saudi Arabia., Vodopiutz J; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Comprehensive Center for Pediatrics, Medical University of Vienna, Vienna, Austria., Heilos A; Department of Pediatric Nephrology and Gastroenterology, Medical University Vienna, Vienna, Austria., Pichler J; Department of Pediatric Nephrology and Gastroenterology, Medical University Vienna, Vienna, Austria., Huber WD; Department of Pediatric Nephrology and Gastroenterology, Medical University Vienna, Vienna, Austria., Müller T; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Knisely AS; Diagnostik- und Forschungsinstitut für Pathologie, Medizinische Universität Graz, Graz, Austria., Janecke AR; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Publikováno v:
Clinical genetics [Clin Genet] 2024 Sep; Vol. 106 (3), pp. 224-233. Date of Electronic Publication: 2024 Mar 29.
Autor:
Azhar, Sughra (AUTHOR), Ikam, Farooq (AUTHOR), Shirazi, Sarina Zainab (AUTHOR), Altaf, Junaid (AUTHOR), Pervaiz, Rahmeen (AUTHOR)
Publikováno v:
Pakistan Armed Forces Medical Journal. 10/31/2023, Vol. 73 Issue 5, p1284-1284. 1p.
Autor:
Wehrman, Andrew, Lee, Christine K.
Publikováno v:
Current Opinion in Pediatrics; Oct2022, Vol. 34 Issue 5, p491-495, 5p
Publikováno v:
Van Tip Dergisi; 2022, Vol. 29 Issue 4, p445-453, 9p
Autor:
Min Sun, Mueller, Jonathan W., Gilligan, Lorna C., Taylor, Angela E., Shaheen, Fozia, Noczyńska, Anna, T'Sjoen, Guy, Denvir, Louise, Shenoy, Savitha, Fulton, Piers, Cheetham, Timothy D., Gleeson, Helena, Rahman, Mushtaqur, Krone, Nils P., Taylor, Norman F., Shackleton, Cedric H. L., Arlt, Wiebke, Idkowiak, Jan
Publikováno v:
European Journal of Endocrinology; Nov2021, Vol. 185 Issue 5, p729-741, 13p
Autor:
Seminotti, Bianca, da Silva, Janaína Camacho, Ribeiro, Rafael Teixeira, Leipnitz, Guilhian, Wajner, Moacir
Publikováno v:
Molecular Neurobiology; Feb2020, Vol. 57 Issue 2, p1233-1244, 12p