Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Balfoort BM"'
Autor:
Balfoort BM; Department of Paediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., Van Den Broeck F; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.; Department of Head & Skin, Ghent University, Ghent, Belgium., Brands MM; Department of Paediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., van Karnebeek CD; Department of Paediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, Netherlands.; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., Bergen AA; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, Netherlands.; Department of Human Genetics, Section Ophthalmogenetics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, Netherlands., van den Born LI; The Rotterdam Eye Hospital, Rotterdam, Netherlands., Houtkooper RH; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, Netherlands.; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., Wagenmakers MAEM; Department of Internal Medicine, Centre for Lysosomal and Metabolic Diseases, Erasmus MC, Erasmus University Medical Centre Rotterdam, Rotterdam, Netherlands., De Zaeytijd J; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium., Leroy BP; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.; Department of Head & Skin, Ghent University, Ghent, Belgium.; Centre for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Boon CJF; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, Netherlands.; Department of Ophthalmology, Leiden University Medical Centre, Leiden, Netherlands., Diederen RMH; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, Netherlands. r.m.diederen@amsterdamumc.nl.
Publikováno v:
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie [Graefes Arch Clin Exp Ophthalmol] 2024 Jun 07. Date of Electronic Publication: 2024 Jun 07.
Autor:
Balfoort BM; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., Pampalone G; Department of Medicine and Surgery, University of Perugia, Perugia, Italy., Ruiter JPN; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Denis SW; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Brands MM; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., Timmer C; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Wagenmakers MAEM; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus MC, Erasmus University Medical Center Rotterdam, Rotterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., Wanders RJA; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., van Karnebeek CD; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., Cellini B; Department of Medicine and Surgery, University of Perugia, Perugia, Italy., Houtkooper RH; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., Ferdinandusse S; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands. Electronic address: s.ferdinandusse@amsterdamumc.nl.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Sep-Oct; Vol. 143 (1-2), pp. 108542. Date of Electronic Publication: 2024 Jul 19.
Autor:
Bergen AA; Department of Human Genetics, Section Ophthalmogenetics, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, the Netherlands.; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, the Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands., Buijs MJ; Department of Human Genetics, Section Ophthalmogenetics, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, the Netherlands., Ten Asbroek AL; Department of Human Genetics, Section Ophthalmogenetics, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, the Netherlands., Balfoort BM; Department of Paediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, the Netherlands.; Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology, Endocrinology, and Metabolism, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, the Netherlands., Boon CJ; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, the Netherlands.; Department of Ophthalmology, Leiden UMC, Leiden, the Netherlands., Brands MM; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands.; Department of Paediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, the Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands., Wanders RJ; Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology, Endocrinology, and Metabolism, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, the Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands., van Karnebeek CD; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands.; Department of Paediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, the Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands., Houtkooper RH; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands. r.h.houtkooper@amsterdamumc.nl.; Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology, Endocrinology, and Metabolism, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, the Netherlands. r.h.houtkooper@amsterdamumc.nl.
Publikováno v:
EMBO molecular medicine [EMBO Mol Med] 2024 Jan; Vol. 16 (1), pp. 4-7. Date of Electronic Publication: 2023 Dec 14.
Autor:
Balfoort BM; Department of Paediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, 1105, AZ, Amsterdam, the Netherlands., Buijs MJN; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1105, AZ, Amsterdam, the Netherlands., Ten Asbroek ALMA; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1105, AZ, Amsterdam, the Netherlands., Bergen AAB; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1105, AZ, Amsterdam, the Netherlands; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, 1105, AZ, Amsterdam, the Netherlands., Boon CJF; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, 1105, AZ, Amsterdam, the Netherlands; Department of Ophthalmology, Leiden University Medical Centre, 2333, ZA, Leiden, the Netherlands., Ferreira EA; Department of Paediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, 1105, AZ, Amsterdam, the Netherlands., Houtkooper RH; Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology, Endocrinology, and Metabolism, Amsterdam UMC, University of Amsterdam, 1105, AZ, Amsterdam, the Netherlands., Wagenmakers MAEM; Department of Internal Medicine, Centre for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Centre Rotterdam, the Netherlands., Wanders RJA; Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology, Endocrinology, and Metabolism, Amsterdam UMC, University of Amsterdam, 1105, AZ, Amsterdam, the Netherlands., Waterham HR; Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology, Endocrinology, and Metabolism, Amsterdam UMC, University of Amsterdam, 1105, AZ, Amsterdam, the Netherlands., Timmer C; Department Endocrinology and Metabolism Amsterdam UMC, University of Amsterdam, 1105, AZ, Amsterdam, the Netherlands., van Karnebeek CD; Department of Paediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, 1105, AZ, Amsterdam, the Netherlands; Department of Paediatrics, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Centre, Nijmegen, the Netherlands., Brands MM; Department of Paediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, 1105, AZ, Amsterdam, the Netherlands. Electronic address: m.m.brands@amsterdamumc.nl.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2021 Sep-Oct; Vol. 134 (1-2), pp. 96-116. Date of Electronic Publication: 2021 Jul 26.
Autor:
Palmer, Eleanor1 (AUTHOR), Stepien, Karolina M.2,3 (AUTHOR), Campbell, Christopher4 (AUTHOR), Barton, Stephanie4 (AUTHOR), Iosifidis, Christos1 (AUTHOR), Ghosh, Arunabha5 (AUTHOR), Broomfield, Alexander5 (AUTHOR), Woodall, Alison2,3 (AUTHOR), Wilcox, Gisela2,3 (AUTHOR), Sergouniotis, Panagiotis I.1,4,6 (AUTHOR) panagiotis.sergouniotis@manchester.ac.uk, Black, Graeme C.1,4,6 (AUTHOR) graeme.black@manchester.ac.uk
Publikováno v:
Orphanet Journal of Rare Diseases. 9/4/2023, Vol. 18 Issue 1, p1-12. 12p.
Autor:
Pauleikhoff, L., Weisschuh, N., Lentzsch, A., Spital, G., Krohne, T. U., Agostini, H., Lange, C.A.K.
Publikováno v:
European Journal of Ophthalmology; Jan2024, Vol. 34 Issue 1, p79-88, 10p