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21
المؤلفون: Guy Wilms, Hugo Devlieger, Nathalie Goemans, L. S. De Vries, Paul Casaer, Maria-Helena Smet
المصدر: Neuropediatrics. 23:153-156
مصطلحات موضوعية: Male, medicine.medical_specialty, Thalamus, Infant, Premature, Diseases, Thalamic Disease, Thalamic Diseases, Lesion, Neuroimaging, medicine, Humans, Dominance, Cerebral, Cerebral Hemorrhage, Full Term, medicine.diagnostic_test, business.industry, Infant, Newborn, Infant, Magnetic resonance imaging, General Medicine, medicine.disease, Echoencephalography, Magnetic Resonance Imaging, Surgery, Perinatal asphyxia, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb4edeca8042a600854418c1de43436eTest
https://doi.org/10.1055/s-2008-1071332Test -
22
المؤلفون: Dirk Loeckx, Steffen Fieuws, Carla Verpoorten, Maria van Helvoirt, Walter Coudyzer, Nathalie Goemans, Francis de Zegher, Kristina Casteels
المصدر: Pediatric diabetes. 11(1)
مصطلحات موضوعية: Blood Glucose, Male, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Muscle disorder, Overweight, Intra-Abdominal Fat, Weight Gain, Body Mass Index, Insulin resistance, Weight loss, Diabetes mellitus, Internal medicine, Internal Medicine, medicine, Humans, Hypoglycemic Agents, Insulin, Obesity, Child, Spinal Dysraphism, business.industry, medicine.disease, Metformin, Muscular Dystrophy, Duchenne, Endocrinology, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, Metabolic syndrome, Insulin Resistance, business, Weight gain
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::038e03e98715a16d2f815ed9c73428c1Test
https://pubmed.ncbi.nlm.nih.gov/19496972Test -
23
المساهمون: UCL - MD/IEPR - Institut d'éducation physique et de réadaptation, UCL - MD/NOPS - Département de neurologie et de psychiatrie, UCL - (SLuc) Service de neurologie, UCL - (SLuc) Service de médecine physique et de réadaptation motrice
المصدر: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 80, no. 3, p. 326-332 (2009)
مصطلحات موضوعية: Questionnaires, Male, Adult, medicine.medical_specialty, Neuromuscular disease, Activities of daily living, Adolescent, Statistics as Topic, Manual Muscle Testing, Grip strength, Young Adult, Disability Evaluation, Physical medicine and rehabilitation, Surveys and Questionnaires, Hand strength, Activities of Daily Living, medicine, Humans, In patient, Muscle Strength, Mobility Limitation, Child, Gait, Aged, Patient Care Team, Aged, 80 and over, Hand Strength, Walking test, Neuromuscular Diseases, Middle Aged, medicine.disease, Psychiatry and Mental health, Physical therapy, Surgery, Female, Neurology (clinical), Psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23ebe4b5fd35c597e9c23ceef73920d1Test
https://hdl.handle.net/2078.1/19653Test -
24
المؤلفون: Yaqun Zou, Nathalie Goemans, Janbernd Kirschner, Joachim Schessl, Ying Hu, Alexandra I Magold, Carsten G. Bönnemann, Raphael Sciot
المصدر: Musclenerve. 38(3)
مصطلحات موضوعية: Male, medicine.medical_specialty, Pathology, Indoles, Physiology, Biopsy, Muscle Fibers, Skeletal, Collagen Type VI, Cellular and Molecular Neuroscience, Atrophy, Collagen VI, Physiology (medical), Internal medicine, medicine, Humans, Myotonic Dystrophy, Myopathy, Adenosine Triphosphatases, Myosin Heavy Chains, business.industry, Skeletal muscle, Infant, Amyotrophy, medicine.disease, Ullrich disease, Muscular Atrophy, Endocrinology, medicine.anatomical_structure, Child, Preschool, Congenital muscular dystrophy, Female, Neurology (clinical), Laminin, medicine.symptom, business, Congenital disorder
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d8e2d08766e57d45cda0046c4209ae2Test
https://pubmed.ncbi.nlm.nih.gov/18720506Test -
25
المساهمون: UCL - (SLuc) Service de médecine physique et de réadaptation motrice, UCL - MD/IEPR - Institut d'éducation physique et de réadaptation, UCL - MD/NOPS - Département de neurologie et de psychiatrie, UCL - (SLuc) Service de neurologie
المصدر: Neuromuscular Disorders, Vol. 19, no. 2, p. 99-103 (2009)
مصطلحات موضوعية: Questionnaires, Adult, Male, medicine.medical_specialty, Activities of daily living, Adolescent, Duchenne muscular dystrophy, Myotonic dystrophy, Disability Evaluation, Young Adult, Charcot-Marie-Tooth Disease, Predictive Value of Tests, Surveys and Questionnaires, Activities of Daily Living, medicine, Humans, Myotonic Dystrophy, Young adult, Muscular dystrophy, Child, Genetics (clinical), Gait Disorders, Neurologic, Paresis, Aged, Aged, 80 and over, Muscle Weakness, business.industry, Muscle weakness, Neuromuscular Diseases, Middle Aged, medicine.disease, Muscular Dystrophy, Duchenne, Neurology, Predictive value of tests, Pediatrics, Perinatology and Child Health, Physical therapy, Disease Progression, Female, Neurology (clinical), medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83d2476af9af619ab197ad1f8fb08349Test
https://pubmed.ncbi.nlm.nih.gov/19167889Test -
26
المساهمون: UCL - MD/IEPR - Institut d'éducation physique et de réadaptation, UCL - MD/NOPS - Département de neurologie et de psychiatrie, UCL - (SLuc) Service de neurologie, UCL - (SLuc) Service de médecine physique et de réadaptation motrice
المصدر: Neuromuscular Disorders, Vol. 17, no. 6, p. 459-469 (2007)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Activities of daily living, Psychometrics, Adolescent, Disability and Health (ICF), International Classification of Functioning, Age and gender, Disability Evaluation, Sickness Impact Profile, Activities of Daily Living, medicine, Humans, Child, Genetics (clinical), Motor score, Aged, Aged, 80 and over, Measure (data warehouse), Rasch model, Models, Statistical, Rasch analysis, Reproducibility of Results, Neuromuscular Diseases, Middle Aged, Functional Independence Measure, Health Surveys, Activity limitations, Outcome assessment, Neurology, Scale (social sciences), Pediatrics, Perinatology and Child Health, Physical therapy, Female, Neurology (clinical), Psychology, Neuromuscular disorders
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfcb0d2a78090f10b9a9f50fca1b67c8Test
https://pubmed.ncbi.nlm.nih.gov/17433675Test -
27
المؤلفون: Davide Pareyson, Vidmer Scaioli, Nathalie Verpoorten, Thomas R. Pieber, Nathalie Goemans, Kristl Claeys, Michaela Auer-Grumbach, Katrien Coen, Gunnar M. Buyse, Eva Nelis, P. De Jonghe, W. Salmhofer, Vincent Timmerman, Matilde Laura
المصدر: Neurology
مصطلحات موضوعية: Adult, Male, Genotype, Nerve Tissue Proteins, Protein Serine-Threonine Kinases, Biology, medicine.disease_cause, Compound heterozygosity, Minor Histocompatibility Antigens, Exon, WNK Lysine-Deficient Protein Kinase 1, Hereditary sensory and autonomic neuropathy, medicine, HSN2, Humans, Hereditary Sensory and Autonomic Neuropathies, Gene, Sequence Deletion, Genetics, Mutation, Chromosomes, Human, Pair 12, Base Sequence, Genetic Carrier Screening, Intracellular Signaling Peptides and Proteins, Chromosome Mapping, Exons, Middle Aged, medicine.disease, Phenotype, Introns, Pedigree, Female, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b94b6b17c4c81b75102bd3402ec67a87Test
https://hdl.handle.net/10067/567770151162165141Test -
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المؤلفون: Ana, Ferreiro, Chantal, Ceuterick-de Groote, Jared J, Marks, Nathalie, Goemans, Gudrun, Schreiber, Folker, Hanefeld, Michel, Fardeau, Jean-Jacques, Martin, Hans H, Goebel, Pascale, Richard, Pascale, Guicheney, Carsten G, Bönnemann
المصدر: Annals of neurology. 55(5)
مصطلحات موضوعية: Adult, Male, Base Sequence, Molecular Sequence Data, Muscle Proteins, Proteins, Desmin, Pedigree, Muscular Diseases, Child, Preschool, Mutation, Humans, Female, Child, Selenoproteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::925a452369928a4e3751b46363863461Test
https://pubmed.ncbi.nlm.nih.gov/15122708Test -
29
المصدر: Journal of Pediatric Gastroenterology & Nutrition. 57:e19
مصطلحات موضوعية: Glycerol, Male, Genetics, business.industry, Gastroenterology, MEDLINE, Aquaporin, Gene mutation, Pediatrics, Perinatology and Child Health, Humans, Medicine, Female, Hemochromatosis, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89507a61f6f12cc30d1b1d5d8f13ac7aTest
https://doi.org/10.1097/mpg.0b013e31829a4ff3Test -
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المؤلفون: Inge Francois, Jaak Jaeken, Jean-Pierre Fryns, Nathalie Goemans, F. de Zegher
المصدر: Journal of inherited metabolic disease. 19(3)
مصطلحات موضوعية: medicine.medical_specialty, Adolescent, Proline, Chromosomes, Human, Pair 22, In situ hybridization, Biology, Contiguous gene syndrome, Internal medicine, Genetics, medicine, Proline Oxidase, Humans, Abnormalities, Multiple, Genetics (clinical), Heparin cofactor II, Oxidase test, Proline oxidase, Psychomotor retardation, Syndrome, medicine.disease, Endocrinology, Hyperprolinemia, Heparin Cofactor II, Female, medicine.symptom, Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2893605a00c7ed5a17b8e2658b97ce68Test
https://pubmed.ncbi.nlm.nih.gov/8803768Test