المؤلفون: Kristin Ørstavik, Kjell Arne Arntzen, Per Mathisen, Paul Hoff Backe, Trine Tangeraas, Magnhild Rasmussen, Erle Kristensen, Marijke Van Ghelue, Christoffer Jonsrud, Yngve Thomas Bliksrud

المصدر: JIMD Reports, Vol 63, Iss 3, Pp 193-198 (2022)

مصطلحات موضوعية: HADHB, MTP, mutation, neuropathy, weakness, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2192-8312Test

الوصول الحر: https://doaj.org/article/69e9d0a6cc444bf09dbe51d2f46778baTest

المؤلفون: Kaspar Broch, MD, PhD, Trine Popperud, MD, PhD, Einar Gude, MD, PhD, Yngvar Fløisand, MD, PhD, Ellen-Ann Antal, MD, PhD, Gerhard Bosse, MD, Christoffer Jonsrud, MD, PhD, Terje Hegard, MD, Silje Skaara, MD, Ahmed Elsais, MD, PhD

المصدر: JACC: Case Reports, Vol 2, Iss 5, Pp 785-789 (2020)

مصطلحات موضوعية: cardiomyopathy, chronic heart failure, echocardiography, imaging, right-sided catheterization, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S266608492030245XTest; https://doaj.org/toc/2666-0849Test

الوصول الحر: https://doaj.org/article/f8e11dab35b7470c982fb3abaa0295d1Test

المؤلفون: Kai Ivar Müller, Marijke Van Ghelue, Irene Lund, Christoffer Jonsrud, Kjell Arne Arntzen

المصدر: Brain and Behavior, Vol 11, Iss 1, Pp n/a-n/a (2021)

مصطلحات موضوعية: epidemiology, hereditary, neuromuscular, prevalence, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2162-3279Test

الوصول الحر: https://doaj.org/article/ab555798ef244c8cad1ab36620d2f6e3Test

المؤلفون: Kristin Ørstavik, Kjell Arne Arntzen, Per Mathisen, Paul Hoff Backe, Trine Tangeraas, Magnhild Rasmussen, Erle Kristensen, Marijke Van Ghelue, Christoffer Jonsrud, Yngve Thomas Bliksrud

المصدر: JIMD Reports. 63:193-198

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Internal Medicine, Biochemistry, Genetics and Molecular Biology (miscellaneous)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9dc2c4b54db3f0c3f01ee9bd63d2b093Test
https://doi.org/10.1002/jmd2.12276Test

المؤلفون: Øivind Nilssen, Christoffer Jonsrud, Maria Nebuchenykh, S. Løseth, Kai Ivar Müller, Marijke Van Ghelue, Kjell Arne Arntzen, Gry Hoem

المصدر: Neuromuscular Disorders. 32:75-79

مصطلحات موضوعية: Neurology, Androgen Receptor Gene, Pediatrics, Perinatology and Child Health, Cancer research, Neurology (clinical), Disease, Biology, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4e8367838bccf6ebb307ab5ed2b2e41Test
https://doi.org/10.1016/j.nmd.2021.11.007Test

المؤلفون: Synnøve M. Jensen, Kai Ivar Müller, Svein Ivar Mellgren, Laurence A. Bindoff, Magnhild Rasmussen, Kristin Ørstavik, Christoffer Jonsrud, Kristian Tveten, Øivind Nilssen, Marijke Van Ghelue, Kjell Arne Arntzen

المصدر: Neuromuscular Disorders

مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3289f728eb11e2ea2f7256bc817be719Test
https://pubmed.ncbi.nlm.nih.gov/36522254Test

المؤلفون: M. Nebuchenykh, S. Løseth, Kai Ivar Müller, Kjell Arne Arntzen, Christoffer Jonsrud, M. Van Ghelue, Øivind Nilssen, G. Hoem

المصدر: Neuromuscular Disorders. 31:S122-S123

مصطلحات موضوعية: medicine.anatomical_structure, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), Motor neuron, business, Neuroscience, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f5dd6ed779a129615810618f8e1ae4dTest
https://doi.org/10.1016/j.nmd.2021.07.267Test

المؤلفون: Christoffer Jonsrud, Marijke Van Ghelue, Kai Ivar Müller, Irene Lund, Kjell Arne Arntzen

المصدر: Brain and Behavior, Vol 11, Iss 1, Pp n/a-n/a (2021)
Brain and Behavior

مصطلحات موضوعية: Adult, musculoskeletal diseases, Pediatrics, medicine.medical_specialty, Adolescent, Duchenne muscular dystrophy, prevalence, Prevalence, Neurosciences. Biological psychiatry. Neuropsychiatry, Myotonic dystrophy, 050105 experimental psychology, 03 medical and health sciences, Behavioral Neuroscience, 0302 clinical medicine, Charcot-Marie-Tooth Disease, medicine, Facioscapulohumeral muscular dystrophy, Humans, 0501 psychology and cognitive sciences, Muscular dystrophy, Child, Original Research, business.industry, Myotonia congenita, Norway, 05 social sciences, VDP::Medisinske Fag: 700::Basale medisinske, odontologiske og veterinærmedisinske fag: 710, Neuromuscular Diseases, medicine.disease, Spinal muscular atrophies, VDP::Medical disciplines: 700::Basic medical, dental and veterinary science disciplines: 710, Muscular Dystrophy, Duchenne, epidemiology, neuromuscular, business, Polyneuropathy, hereditary, 030217 neurology & neurosurgery, RC321-571

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edfdee9b5426bc9d61cda9a1e953a77eTest
https://hdl.handle.net/10037/19884Test

المؤلفون: Christoffer Jonsrud, Geir Åsmund Myge Hansen, Marijke Van Ghelue, Hilde Monica Frostad Riise Stensland, Siri Skarsfjord, Nina Strømsvik, Elisabeth Jarhelle, Monica Ingebrigtsen

المصدر: Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-12 (2019)

مصطلحات موضوعية: Adult, Oncology, medicine.medical_specialty, Genotype, endocrine system diseases, lcsh:Medicine, Disease, Polymorphism, Single Nucleotide, Article, Germline, Breast cancer, Internal medicine, Genetics research, Biomarkers, Tumor, medicine, Humans, Genetic Predisposition to Disease, Clinical significance, VDP::Medisinske Fag: 700, FANCM, lcsh:Science, skin and connective tissue diseases, Cancer genetics, Gene, CHEK2, Alleles, Genetic Association Studies, Germ-Line Mutation, Aged, Aged, 80 and over, BRCA2 Protein, Multidisciplinary, BRCA1 Protein, business.industry, lcsh:R, Middle Aged, medicine.disease, Pedigree, VDP::Medisinske Fag: 700::Klinisk medisinske fag: 750::Onkologi: 762, VDP::Medical disciplines: 700, Amino Acid Substitution, Hereditary Breast and Ovarian Cancer Syndrome, RAD51C, lcsh:Q, Female, business, Ovarian cancer

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8c32e64986e163086a2e4c84ca7b494Test
https://hdl.handle.net/10037/17238Test

المؤلفون: S. Løseth, Christoffer Jonsrud, Kai Ivar Müller, Elisabeth Kjeldsen Buvang, Kjell Arne Arntzen, S.I. Mellgren, G. Hoem, H. Halvorsen, M. Van Ghelue, A. Bågenholm

المصدر: Neuromuscular Disorders. 31:S66

مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::74750f9421ad17375b467db4db986bf4Test
https://doi.org/10.1016/j.nmd.2021.07.081Test