Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Muffels IJJ"'
Autor:
Muffels IJJ; Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Sadek M; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA., Kozicz T; Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Anatomy, University of Pecs Medical School, Pecs, Hungary., Morava E; Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Biophysics, University of Pecs Medical School, Pecs, Hungary.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Sep; Vol. 47 (5), pp. 935-944. Date of Electronic Publication: 2024 Jun 21.
Autor:
Budhraja R; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA., Radenkovic S; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA., Jain A; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA., Muffels IJJ; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Genetics and Genomics Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Ismaili MHA; Glycomine, Inc., San Carlos, CA 94070, USA., Kozicz T; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Department of Genetics and Genomics Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Anatomy, University of Pécs Medical School, 7624 Pécs, Hungary., Pandey A; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Manipal Academy of Higher Education, Manipal, 576104, Karnataka, India. Electronic address: pandey.akhilesh@mayo.edu., Morava E; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Department of Genetics and Genomics Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Biophysics, University of Pécs Medical School, 7624 Pécs, Hungary. Electronic address: eva.morava@mssm.edu.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Jun; Vol. 142 (2), pp. 108487. Date of Electronic Publication: 2024 May 07.
Autor:
Muffels IJJ; Department of Metabolic Diseases, Division Pediatrics, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht University, 3584 EA Utrecht, the Netherlands; Center for Translational Immunology (CTI), Division Pediatrics, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Schene IF; Department of Metabolic Diseases, Division Pediatrics, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht University, 3584 EA Utrecht, the Netherlands., Rehmann H; Department of Energy and Biotechnology, Flensburg University of Applied Sciences, Flensburg, Germany., Massink MPG; Department of Genetics, Division Pediatrics, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., van der Wal MM; Center for Translational Immunology (CTI), Division Pediatrics, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Bauder C; Department of Neuroendocrinology, Max Planck Institute of Psychiatry, Munich, Germany; Institute of Developmental Genetics, Helmholtz Zentrum München, Munich, Germany., Labeur M; Department of Neuroendocrinology, Max Planck Institute of Psychiatry, Munich, Germany., Armando NG; Instituto de Investigación en Biomedicina de Buenos Aires (IBioBA) - CONICET - Partner Institute of the Max Planck Society, Buenos Aires, Argentina., Lequin MH; Division Imaging and Oncology University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Houben ML; Department of General Pediatrics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Giltay JC; Department of Genetics, Division Pediatrics, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Haitjema S; Central Diagnostics Laboratory, University Medical Center Utrecht, Utrecht, the Netherlands., Huisman A; Central Diagnostics Laboratory, University Medical Center Utrecht, Utrecht, the Netherlands., Vansenne F; Department of Medical Genetics, University Medical Center Groningen, Groningen, the Netherlands., Bluvstein J; Dravet Center and Comprehensive Epilepsy Center, NYU School of Medicine, New York, NY, USA., Pappas J; NYU Clinical Genetic Services, NYU Grossman School of Medicine, New York, NY, USA., Shailee LV; Department of Radiology, NYU Grossman School of Medicine, New York, NY, USA., Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA., Mokry M; Laboratory of Experimental Cardiology, Department of Cardiology, University Medical Center Utrecht, University of Utrecht, Utrecht, the Netherlands., van Haaften GW; Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Nieuwenhuis EES; Department of Biomedical and Life Sciences, University College Roosevelt, Middelburg, the Netherlands., Refojo D; Instituto de Investigación en Biomedicina de Buenos Aires (IBioBA) - CONICET - Partner Institute of the Max Planck Society, Buenos Aires, Argentina; Molecular Neurobiology, Max Planck Institute of Psychiatry, Munich, Germany., van Wijk F; Department of Genetics, Division Pediatrics, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Fuchs SA; Department of Metabolic Diseases, Division Pediatrics, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht University, 3584 EA Utrecht, the Netherlands., van Hasselt PM; Department of Metabolic Diseases, Division Pediatrics, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht University, 3584 EA Utrecht, the Netherlands. Electronic address: p.vanhasselt@umcutrecht.nl.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2023 Jan 05; Vol. 110 (1), pp. 146-160.
Autor:
Muffels IJJ; Department of Metabolic Diseases, Division of Pediatrics, Wilhelmina Children's Hospital University Medical Centre Utrecht, Utrecht University, 3584 EA Utrecht, the Netherlands., Wiame E; Laboratoire de biologie moléculaire, UCLouvain-Cliniques Universitaires Saint-Luc, 1200 Brussels, Belgium., Fuchs SA; Department of Metabolic Diseases, Division of Pediatrics, Wilhelmina Children's Hospital University Medical Centre Utrecht, Utrecht University, 3584 EA Utrecht, the Netherlands., Massink MPG; Department of Genetics, Section of Genome Diagnostics, Division Laboratories, Pharmacy and Biomedical Genetics, 3584 CX Utrecht, the Netherlands., Rehmann H; Department of Energy and Biotechnology, Flensburg University of Applied Sciences, 24943 Flensburg, Germany., Musch JLI; Department of Metabolic Diseases, Division of Pediatrics, Wilhelmina Children's Hospital University Medical Centre Utrecht, Utrecht University, 3584 EA Utrecht, the Netherlands., Van Haaften G; Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, 3584 CX Utrecht, the Netherlands., Vertommen D; Mass Spectrometry Platform, de Duve Institute, UCLouvain, 1200 Brussels, Belgium., van Schaftingen E; Laboratory of Physiological Chemistry, De Duve Institute, UCLouvain, 1200 Brussels, Belgium., van Hasselt PM; Department of Metabolic Diseases, Division of Pediatrics, Wilhelmina Children's Hospital University Medical Centre Utrecht, Utrecht University, 3584 EA Utrecht, the Netherlands.
Publikováno v:
Brain communications [Brain Commun] 2021 Oct 26; Vol. 3 (4), pp. fcab256. Date of Electronic Publication: 2021 Oct 26 (Print Publication: 2021).
Autor:
Ree, Rasmus, Sheng-Jia Lin, Dahl, Lars Ole Sti, Huang, Kevin, Petree, Cassidy, Varshney, Gaurav K., Arnesen, Thomas
Publikováno v:
Life Science Alliance; Dec2024, Vol. 7 Issue 12, p1-14, 14p
Autor:
Šikić, Katarina, Peters, Tessa M. A., Engelke, Udo, Petković Ramadža, Danijela, Žigman, Tamara, Fumić, Ksenija, Davidović, Maša, Huljev Frković, Sanda, Körmendy, Tibor, Martinelli, Diego, Novelli, Antonio, Lepri, Francesca Romana, Wevers, Ron A., Barić, Ivo
Publikováno v:
Journal of Inherited Metabolic Disease Reports; Nov2024, Vol. 65 Issue 6, p361-370, 10p
Autor:
Chelban, Viorica, Aksnes, Henriette, Maroofian, Reza, LaMonica, Lauren C., Seabra, Luis, Siggervåg, Anette, Devic, Perrine, Shamseldin, Hanan E., Vandrovcova, Jana, Murphy, David, Richard, Anne-Claire, Quenez, Olivier, Bonnevalle, Antoine, Zanetti, M. Natalia, Kaiyrzhanov, Rauan, Salpietro, Vincenzo, Efthymiou, Stephanie, Schottlaender, Lucia V., Morsy, Heba, Scardamaglia, Annarita
Publikováno v:
Nature Communications; 3/13/2024, Vol. 15 Issue 1, p1-20, 20p
Autor:
Koufaris C; Epigenetics and Gene Regulation Laboratory, Department of Biological Sciences, University of Cyprus, 2109, Nicosia, Cyprus., Demetriadou C; Epigenetics and Gene Regulation Laboratory, Department of Biological Sciences, University of Cyprus, 2109, Nicosia, Cyprus., Nicolaidou V; Department of Life Sciences, University of Nicosia, Nicosia, Cyprus., Kirmizis A; Epigenetics and Gene Regulation Laboratory, Department of Biological Sciences, University of Cyprus, 2109, Nicosia, Cyprus. kirmizis@ucy.ac.cy.
Publikováno v:
Biochemical genetics [Biochem Genet] 2024 Jun 12. Date of Electronic Publication: 2024 Jun 12.
Publikováno v:
Neural Regeneration Research; Oct2025, Vol. 20 Issue 10, p2862-2871, 10p