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1دورية أكاديمية
المؤلفون: M. M. Hitzert, S. N. van der Crabben, G. Baldewsingh, H. K. Ploos van Amstel, A. van den Wijngaard, C. M. A. van Ravenswaaij-Arts, C. W. R. Zijlmans
المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)
مصطلحات موضوعية: Mandibuloacral dysplasia with type B lipodystrophy, ZMPSTE24 gene, Suriname, Diagnostic criteria, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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2دورية أكاديمية
المؤلفون: G, Baldewsingh, E, van Eer, J, Wickliffe, M, Lichtveld, C, Zijlmans
المصدر: Environmental Epidemiology ; volume 3, page 20 ; ISSN 2474-7882
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3
المؤلفون: H K Ploos van Amstel, C.M.A. van Ravenswaaij-Arts, M M Hitzert, G Baldewsingh, S. N. van der Crabben, A. van den Wijngaard, C W R Zijlmans
المساهمون: MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output, Human Genetics, Clinical Cognitive Neuropsychiatry Research Program (CCNP)
المصدر: Orphanet Journal of Rare Diseases, 14(1):294. BioMed Central Ltd
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, 14(1):294. BioMed Central
Orphanet journal of rare diseases, 14(1):294. BMCمصطلحات موضوعية: Premature aging, Adult, Male, medicine.medical_specialty, Diagnostic criteria, Adolescent, lcsh:Medicine, Compound heterozygosity, Short stature, PROGERIA, Craniofacial Abnormalities, Young Adult, ZMPSTE24 gene, medicine, Missense mutation, Humans, Pharmacology (medical), Child, Lipoatrophy, Genetics (clinical), LMNA MUTATION, LIPODYSTROPHY, Suriname, business.industry, Research, Homozygote, lcsh:R, Membrane Proteins, Metalloendopeptidases, General Medicine, medicine.disease, Mandibuloacral dysplasia with type B lipodystrophy, Dermatology, Hypoplasia, Pedigree, Mandibuloacral dysplasia, Phenotype, Child, Preschool, Mutation, Female, METALLOPROTEINASE, Lipodystrophy, medicine.symptom, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::096b077b99846318ea11b90954bf8da1Test
https://cris.maastrichtuniversity.nl/en/publications/0d53ef10-efba-43ed-830e-0ed963afb571Test