المؤلفون: Nathalie Goemans, Matthias Mörgelin, Kathryn N. North, Rachel A. Peat, Shireen R. Lamandé, John F. Bateman, Naomi L. Baker

المساهمون: University of Groningen

المصدر: Human Molecular Genetics, 14(2), 279-293. Oxford University Press

مصطلحات موضوعية: Adult, IN-FRAME DELETION, VONWILLEBRAND-FACTOR, TRIPLE-HELIX, Ullrich congenital muscular dystrophy, BETHLEM-MYOPATHY, ENDOPLASMIC-RETICULUM, Genes, Recessive, Collagen Type VI, Biology, medicine.disease_cause, Compound heterozygosity, Muscular Dystrophies, MICROFIBRIL FORMATION, Collagen VI, Genetics, medicine, Humans, RNA, Messenger, Child, Molecular Biology, Genetics (clinical), Genes, Dominant, Mutation, MESSENGER-RNA DECAY, Bethlem myopathy, Infant, Muscle weakness, Heterozygote advantage, GLOBULAR DOMAINS, General Medicine, Fibroblasts, medicine.disease, OLIGOMERIZATION DOMAINS, Osteogenesis imperfecta, OSTEOGENESIS IMPERFECTA, Child, Preschool, Microfibrils, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b4662eafe749a2b675730bdf29b58fcTest
https://research.rug.nl/en/publications/30a9d54f-1af2-4fc3-bc4a-2dadd46b6394Test

المؤلفون: Nathalie Goemans, Martin Lammens, F Lemmens, Jean-Pierre Fryns, G M van de Kamp, René Dom, Philippe Moerman

المصدر: Neuropediatrics. 28:116-119

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Hydrops Fetalis, Hypokinesia, Neurological disorder, Myopathies, Nemaline, Ultrasonography, Prenatal, Craniofacial Abnormalities, Central nervous system disease, Nemaline myopathy, Pregnancy, Hydrops fetalis, medicine, Humans, Abnormalities, Multiple, Arthrogryposis, Family Health, Fetus, Arthrogryposis multiplex congenita, business.industry, Muscles, Infant, Newborn, General Medicine, medicine.disease, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23d6ab2c044a0ec39785756474de0512Test
https://doi.org/10.1055/s-2007-973683Test

المؤلفون: Fransiska Malfait, Anne De Paepe, Sheela Nampoothiri, Yolanda Gyftodimou, Vanesa López-González, Michael B. Petersen, Nathalie Goemans, Geert Mortier, Sofie Symoens, Eva Holmberg

المصدر: Orphanet journal of rare diseases
Malfait, F, Symoens, S, Goemans, N, Gyftodimou, Y, Holmberg, E, López-González, V, Mortier, G, Nampoothiri, S, Petersen, M B & De Paepe, A 2013, ' Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome ', Orphanet Journal of Rare Diseases, vol. 8, pp. 78 . https://doi.org/10.1186/1750-1172-8-78Test
Orphanet Journal of Rare Diseases
ORPHANET JOURNAL OF RARE DISEASES

مصطلحات موضوعية: Male, COL1A2, ADULTHOOD, DOMAIN, Arterial fragility, Medicine and Health Sciences, Genetics(clinical), Pharmacology (medical), Child, Genetics (clinical), Medicine(all), ARTHROCHALASIA TYPE, Fibrillogenesis, Procollagen N-Endopeptidase, Overlap syndrome, General Medicine, Osteogenesis Imperfecta, Phenotype, Osteogenesis imperfecta, END, Female, medicine.symptom, Type I collagen, Procollagen, Adult, medicine.medical_specialty, Genotype, PROCOLLAGEN N-PROTEINASE, Short stature, Collagen Type I, Internal medicine, medicine, Humans, business.industry, Research, Biology and Life Sciences, medicine.disease, GENE, VIIA, Peptide Fragments, Collagen Type I, alpha 1 Chain, Procollagen peptidase, Endocrinology, DEFECT, Ehlers–Danlos syndrome, Mutation, CHAIN, Ehlers-Danlos Syndrome, Human medicine, business

وصف الملف: pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fca3d0d8c88ea8ee888d4486667a3888Test
https://hdl.handle.net/10067/1090000151162165141Test

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

المؤلفون: Gunnar M. Buyse, N Reynaert, I Francois, G de Bruyn, Nathalie Goemans, L. De Waele, L Wouters, Lieven Lagae, Katrien Jansen

المصدر: European Journal of Paediatric Neurology. 17:S104

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Thyroid Transcription Factor 1, Chorea, General Medicine, Endocrinology, Internal medicine, Pediatrics, Perinatology and Child Health, Brain-Lung-Thyroid Syndrome, Cancer research, medicine, Neurology (clinical), medicine.symptom, business, Novel mutation, Gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::59d48514e941069e3463ee0a094a4772Test
https://doi.org/10.1016/s1090-3798Test(13)70363-5