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pro vyhledávání: '"Holla ØL"'
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Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Rustad CF; Centre for Rare Disorders, Oslo University Hospital, Oslo, Norway., Backe PH; Department of Microbiology, Oslo University Hospital HF, Rikshospitalet, Oslo, Norway.; Department of Medical Biochemistry, Institute of Clinical Medicine, University of Oslo, Oslo, Norway., Jin C; Proteomics Core Facility at Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Merckoll E; Unilabs Radiology Norway, Oslo, Norway., Tveten K; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Maciej-Hulme ML; Department of Life Sciences and Health, Oslo Metropolitan University, Oslo, Norway., Karlsson N; Department of Life Sciences and Health, Oslo Metropolitan University, Oslo, Norway.; Department of Medical Biochemistry and Cell Biology, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Prescott T; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Sand ES; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway., Woldseth B; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway., Elgstøen KBP; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway., Holla ØL; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.
Publikováno v:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jun; Vol. 12 (6), pp. e2472.
Autor:
Novy C; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.; Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, 0316 Oslo, Norway., Busk ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway., Tysnes OB; Neuro-SysMed, Department of Neurology, Haukeland University Hospital, 5009 Bergen, Norway., Landa SS; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway., Aanjesen TN; Department of Neurology, Akershus University Hospital, 1478 Lørenskog, Norway., Alstadhaug KB; Department of Neurology, Nordland Hospital Trust, 8005 Bodø, Norway., Bjerknes TL; Neuro-SysMed, Department of Neurology, Haukeland University Hospital, 5009 Bergen, Norway.; Institute of Clinical Medicine, University of Bergen, 5007 Bergen, Norway., Bjørnå IK; Department of Neurology, Vestre Viken Hospital Trust, 3004 Drammen, Norway., Bråthen G; Department of Neurology and Clinical Neurophysiology, St. Olavs Hospital, Trondheim University Hospital, 7030 Trondheim, Norway.; Department of Neuromedicine and Movement Science, Norwegian University of Science and Technology, 7034 Trondheim, Norway., Dahl E; Department of Neurology, Telemark Hospital Trust, 3710 Skien, Norway., Demic N; Department of Neurology, Vestfold Hospital Trust, 3103 Tønsberg, Norway., Fahlström M; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway., Flemmen HØ; Department of Neurology, Telemark Hospital Trust, 3710 Skien, Norway., Hallerstig E; Department of Neurology, Østfold Hospital Trust, 1714 Grålum, Norway., HogenEsch I; Department of Neurology, Fonna Hospital Trust, 5528 Haugesund, Norway., Kampman MT; Department of Neurology, University Hospital of North Norway, 9019 Tromsø, Norway., Kleveland G; Department of Neurology, Innlandet Hospital Trust, 2609 Lillehammer, Norway., Kvernmo HB; Department of Neurology and Clinical Neurophysiology, St. Olavs Hospital, Trondheim University Hospital, 7030 Trondheim, Norway.; Department of Neuromedicine and Movement Science, Norwegian University of Science and Technology, 7034 Trondheim, Norway., Ljøstad U; Institute of Clinical Medicine, University of Bergen, 5007 Bergen, Norway.; Department of Neurology, Sørlandet Hospital Trust, 4615 Kristiansand, Norway., Maniaol A; Department of Neurology, Oslo University Hospital, 0450 Oslo, Norway., Morsund AH; Department of Neurology, Molde Hospital, 6412 Molde, Norway., Nakken O; Department of Neurology, Akershus University Hospital, 1478 Lørenskog, Norway., Olsen CG; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.; Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, 0316 Oslo, Norway., Schlüter K; Department of Neurology, Stavanger University Hospital, 4019 Stavanger, Norway., Utvik MS; Department of Neurology, Namsos Hospital Trust, 7803 Namsos, Norway., Yaseen R; Department of Neurology, Oslo University Hospital, 0450 Oslo, Norway., Holla ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway., Holmøy T; Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, 0316 Oslo, Norway.; Department of Neurology, Akershus University Hospital, 1478 Lørenskog, Norway., Høyer H; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.
Publikováno v:
Brain communications [Brain Commun] 2024 Mar 14; Vol. 6 (2), pp. fcae087. Date of Electronic Publication: 2024 Mar 14 (Print Publication: 2024).
Autor:
Olsen CG; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.; Institute of Clinical Medicine, University of Oslo, Nordbyhagen, Norway., Busk ØL; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Holla ØL; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Tveten K; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Holmøy T; Institute of Clinical Medicine, University of Oslo, Nordbyhagen, Norway.; Department of Neurology, Akershus University Hospital, Lørenskog, Norway, and., Tysnes OB; Department of Neurology, Haukeland University Hospital, Bergen, Norway., Høyer H; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.
Publikováno v:
Amyotrophic lateral sclerosis & frontotemporal degeneration [Amyotroph Lateral Scler Frontotemporal Degener] 2024 Feb; Vol. 25 (1-2), pp. 177-187. Date of Electronic Publication: 2024 Jan 23.
Autor:
Mah-Som AY; Genetics Training Program, Harvard Medical School and Brigham & Women's Hospital, Boston, MA 02115, USA; Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA., Daw J; Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA., Huynh D; Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, CA 91125, USA., Wu M; Division of Chemistry and Chemical Engineering, California Institute of Technology, Pasadena, CA 91125, USA., Creekmore BC; Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA., Burns W; Greenwood Genetic Center, Greenwood, SC 29646, USA., Skinner SA; Greenwood Genetic Center, Greenwood, SC 29646, USA., Holla ØL; Department of Medical Genetics, Telemark Hospital, 3710 Skien, Norway., Smeland MF; Department of Pediatric Rehabilitation, University Hospital of North Norway and the Arctic, University of Norway, 9019 Tromsø, Norway., Planes M; Service de Génétique Médicale et Biologie de la Reproduction, and Centre de Référence Déficiences Intellectuelles, Service de Pédiatrie, CHU de Brest, 29200 Brest, France., Uguen K; Service de Génétique Médicale et Biologie de la Reproduction, and Centre de Référence Déficiences Intellectuelles, Service de Pédiatrie, CHU de Brest, 29200 Brest, France; University Brest, Inserm, EFS, UMR 1078, GGB, 29200 Brest, France., Redon S; Service de Génétique Médicale et Biologie de la Reproduction, and Centre de Référence Déficiences Intellectuelles, Service de Pédiatrie, CHU de Brest, 29200 Brest, France; University Brest, Inserm, EFS, UMR 1078, GGB, 29200 Brest, France., Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany., Scholz T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany., Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany., Mensah MA; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, 10117 Berlin, Germany; BIH Biomedical Innovation Academy, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany; RG Development and Disease, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany., Sczakiel HL; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, 10117 Berlin, Germany; BIH Biomedical Innovation Academy, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany; RG Development and Disease, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany., Tichy H; Institute of Human Genetics, Diagnostic and Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria., Verheyen S; Institute of Human Genetics, Diagnostic and Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria., Blatterer J; Institute of Human Genetics, Diagnostic and Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria., Schreiner E; Institute of Human Genetics, Diagnostic and Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria., Thies J; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA., Lam C; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98105, USA., Spaeth CG; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH 45229, USA., Pena L; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA., Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ 85004, USA., Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ 85004, USA., Seaver LH; Corewell Health Helen Devos Children's Hospital, Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, MI 49503, USA., Rodriguez D; Departement of Pediatric Neurology & Reference Centre for Congenital Malformations and Diseases of the Cerebellum, AP-HP.Sorbonne Université - Hôpital d'Enfants Armand-Trousseau, 75012 Paris, France., Afenjar A; Cerebellar Malformations and Congenital Diseases Reference Center and Neurogenetics Lab, Department of Genetics, Armand Trousseau Hospital, AP-HP Sorbonne Université, 75006 Paris, France., Burglen L; Cerebellar Malformations and Congenital Diseases Reference Center and Neurogenetics Lab, Department of Genetics, Armand Trousseau Hospital, AP-HP Sorbonne Université, 75006 Paris, France., Lee EB; Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA., Chou TF; Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, CA 91125, USA., Weihl CC; Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address: weihlc@wustl.edu., Shinawi MS; Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address: mshinawi@wustl.edu.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2023 Nov 02; Vol. 110 (11), pp. 1959-1975. Date of Electronic Publication: 2023 Oct 25.
Autor:
Smeland MF; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway., Brouillard P; Human Molecular Genetics, de Duve Institute, Universite catholique de Louvain, Brussels, Belgium., Prescott T; Department of Medical Genetics, Telemark Hospital, Skien, Norway., Boon LM; Center for Vascular Anomalies, Division of Plastic Surgery, VASCERN VASCA European Reference Centre, University Hospital Saint-Luc, Bruxelles, Belgium., Hvingel B; Department of Obstetrics and Gynecology, University Hospital of North Norway, Tromsø, Norway., Nordbakken CV; Department of Clinical Pathology, University Hospital of North Norway, Tromsø, Norway., Nystad M; Department of Obstetrics and Gynecology, University Hospital of North Norway, Tromsø, Norway.; Department of Clinical Medicine, University Hospital of North Norway, Tromsø, Norway., Holla ØL; Department of Medical Genetics, Telemark Hospital, Skien, Norway oholla@sthf.no., Vikkula M; Human Molecular Genetics, de Duve Institute, Universite catholique de Louvain, Brussels, Belgium.; Center for Vascular Anomalies, Division of Plastic Surgery, VASCERN VASCA European Reference Centre, University Hospital Saint-Luc, Bruxelles, Belgium.
Publikováno v:
Journal of medical genetics [J Med Genet] 2023 Jan; Vol. 60 (1), pp. 57-64. Date of Electronic Publication: 2021 Dec 07.
Autor:
Høyer H; Department of Medical Genetics, Telemark Hospital, Skien, Norway helle.hoyer@sthf.no michaela.auer-grumbach@meduniwien.ac.at., Hilmarsen HT; Department of Medical Genetics, Telemark Hospital, Skien, Norway., Sunder-Plassmann R; Department of Laboratory Medicine, Medical University of Vienna, Vienna, Austria., Braathen GJ; Department of Medical Genetics, Telemark Hospital, Skien, Norway., Andersen PM; Department of Clinical Sciences, Norrlands universitetssjukhus, Umeå, Sweden., Beetz C; Centogene AG, Rostock, Germany., Hacker S; Department of Orthopaedics and Trauma Surgery, Medical University of Vienna, Vienna, Austria., Holla ØL; Department of Medical Genetics, Telemark Hospital, Skien, Norway., Kurth I; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany., Löscher WN; Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria., Reiter SBCF; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Rudnik-Schöneborn S; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Strand L; Department of Medical Genetics, Telemark Hospital, Skien, Norway., Windhager R; Department of Orthopaedics and Trauma Surgery, Medical University of Vienna, Vienna, Austria., Witsch-Baumgartner M; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Senderek J; Friedrich Baur Institute, Department of Neurology, Ludwig-Maximilians-Universität München Medizinische Fakultät, Munich, Germany., Auer-Grumbach M; Department of Orthopaedics and Trauma Surgery, Medical University of Vienna, Vienna, Austria helle.hoyer@sthf.no michaela.auer-grumbach@meduniwien.ac.at.
Publikováno v:
Journal of medical genetics [J Med Genet] 2022 Oct; Vol. 59 (10), pp. 1024-1026. Date of Electronic Publication: 2022 Mar 22.