المؤلفون: Christoffer Rasmus Vissing, Thomas Krag, John Vissing, Morten Duno, F. Juul Hansen, M. Riisager

المصدر: Neuromuscular Disorders. 23:562-567

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Genotype, Cardiomyopathy, Limb girdle, Mallory Bodies, Muscular Dystrophies, Young Adult, Japan, medicine, Humans, Age of Onset, Muscular dystrophy, Dystroglycans, Genetics (clinical), Muscle Weakness, business.industry, Membrane Proteins, Dystrophy, Muscle weakness, Anatomy, medicine.disease, Fukutin, Phenotype, Muscular Dystrophies, Limb-Girdle, Scoliosis, Neurology, Mutation, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, Age of onset, business, Limb-girdle muscular dystrophy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::555c9515c2ce8f343097d33eb36a4649
https://doi.org/10.1016/j.nmd.2013.04.006

المؤلفون: A-M Plesner, F Juul Hansen, K Taudorf, L Holme Nielsen, C Brenner Larsen, E Pedersen

المصدر: Acta Paediatrica. 89:58-63

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1a34ef1458dacb03c05e3b06d6c04e1c
https://doi.org/10.1111/j.1651-2227.2000.tb01188.x

المؤلفون: Sylvie Marchand, Kristiina Avela, Francesco Muntoni, Esa Tahvanainen, M. de Visser, Juha Kolehmainen, S. Fauré, Nigel G. Laing, I.M. van Langen, Victor Dubowitz, F. Juul Hansen, Carina Wallgren-Pettersson, A. de la Chapelle

المساهمون: Reproductive Origins of Adult Health and Disease (ROAHD), Health Psychology Research (HPR), Other departments

المصدر: Neuromuscular disorders, 5(6), 441-443. PERGAMON-ELSEVIER SCIENCE LTD
Neuromuscular disorders, 5(6), 441-443. Elsevier Limited

مصطلحات موضوعية: Denmark, genotype, Autosomal recessive, Tropomyosin, genetic analysis, Gene mutation, Myopathies, Nemaline, 0302 clinical medicine, Nemaline myopathy, genetic linkage, Genotype, gene mutation, Genetics (clinical), Finland, Netherlands, Genetics, Recombination, Genetic, 0303 health sciences, Congenital myopathy, clinical article, allele, article, Neurology, priority journal, Chromosomes, Human, Pair 2, Microsatellite, Nemaline (rod) myopathy, genetic marker, nemaline myopathy, Linkage analysis, Genes, Recessive, Biology, 03 medical and health sciences, autosomal dominant disorder, Genetic linkage, medicine, Humans, human, normal human, Allele, 030304 developmental biology, autosomal recessive disorder, Australia, medicine.disease, United Kingdom, Genetic location, chromosome 2q, Genetic marker, Pediatrics, Perinatology and Child Health, Neurology (clinical), 030217 neurology & neurosurgery, Microsatellite Repeats

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7047e6830146c704885b00b246890e3f
https://research.rug.nl/en/publications/077e2e45-c86a-41f9-bb08-7bf0ec3b9f85

المؤلفون: O. Amtoft Nielsen, Niels Ove Illum, Peter Uldall, F. Juul Hansen

المصدر: European Journal of Paediatric Neurology. 3:A147-A148

مصطلحات موضوعية: Dystonia, business.industry, Anesthesia, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), General Medicine, Spasticity, medicine.symptom, medicine.disease, business, Intrathecal baclofen

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::dc7c94d42953f1521ee7bf25045d3c0e
https://doi.org/10.1016/s1090-3798(99)91372-7

المؤلفون: Birgitte Friis, F. Juul Hansen

المصدر: Acta paediatrica Scandinavica. 65(3)

مصطلحات موضوعية: Male, medicine.medical_specialty, Abnormal dermatoglyphics, Gigantism, Serum prolactin, Somatomedins, Internal medicine, Medicine, Humans, Abnormalities, Multiple, Brain Diseases, business.industry, Sotos syndrome, Infant, Newborn, Infant, General Medicine, Syndrome, medicine.disease, Somatomedin, Prolactin, Endocrinology, Endocrine studies, Pediatrics, Perinatology and Child Health, Acromegaly, Etiology, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac232b79ee7b84f1d5c8aafd2f04b417
https://pubmed.ncbi.nlm.nih.gov/1274571