المصدر: Clinical Genetics. 101(2):149-160

مصطلحات موضوعية: FSHD, prenatal diagnosis, SMCHD1, SOMATIC MOSAICISM, facioscapulohumeral muscular dystrophy, REARRANGEMENTS, WOMEN, DIAGNOSIS, PHENOTYPE, REGION, NEUROMUSCULAR DISORDERS, genetics, pregnancy, delivery, D4Z4 REPEAT, preimplantation genetic testing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od________83::3a229c50e3fef01ec12093dadad481c4Test
https://doi.org/10.1111/cge.14031Test

المؤلفون: Patrick J. van der Vliet, Baziel G.M. van Engelen, George W. Padberg, Nicol C. Voermans, Silvère M. van der Maarel, Corinne G.C. Horlings, Marianne A. Jonker, Richard J.L.F. Lemmers, Karlien Mul

المصدر: Clinical Genetics, 94, 6, pp. 521-527
Clinical Genetics, 94, 521-527
Clinical Genetics, 94(6), 521-527

مصطلحات موضوعية: Male, 0301 basic medicine, Penetrance, Severity of Illness Index, Gastroenterology, 0302 clinical medicine, Genotype, Facioscapulohumeral muscular dystrophy, Genetics (clinical), Aged, 80 and over, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Explained variation, Magnetic Resonance Imaging, Muscular Dystrophy, Facioscapulohumeral, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], Facial muscles, Phenotype, medicine.anatomical_structure, facioscapulohumeral muscular dystrophy (FSHD), Female, Body region, Adult, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Adolescent, Locus (genetics), Young Adult, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, disease modifiers, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Allele, Alleles, Genetic Association Studies, Aged, epigenetics, business.industry, medicine.disease, 030104 developmental biology, Haplotypes, business, Biomarkers, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9aaaff8ad1096fcdd3661a112405443Test
https://doi.org/10.1111/cge.13446Test

المؤلفون: Mul, K., Voermans, N.C., Lemmers, R.J.L.F., Jonker, M.A., Vliet, P.J. van der, Padberg, G.W., Engelen, B.G.M. van, Maarel, S.M. van der, Horlings, C.G.C.

المصدر: Clinical Genetics

مصطلحات موضوعية: disease modifiers, epigenetics, facioscapulohumeral muscular dystrophy (FSHD), genotype, phenotype

وصف الملف: application/pdf

العلاقة: lumc-id: 57086035; https://hdl.handle.net/1887/86396Test

الإتاحة: https://doi.org/10.1111/cge.13446Test
https://hdl.handle.net/1887/86396Test

المؤلفون: Giovanni Vazza, Giuliano Tomelleri, Giuliana Galluzzi, Maria Luisa Mostacciuolo, Corrado Angelini, Carlo P. Trevisan, Marta Miorin, Ebe Pastorello

المصدر: Clinical Genetics. 75:550-555

مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, medicine.medical_specialty, Population, facioscapulohumeral muscular dystrophy, Biology, Epidemiology, Genetics, medicine, Humans, Facioscapulohumeral muscular dystrophy, Age of Onset, Muscular dystrophy, education, Genetics (clinical), Aged, Sequence Deletion, Aged, 80 and over, FSHD, education.field_of_study, Haplotype, epidemiology, PREVALENCE, Autosomal dominant trait, Dystrophy, DNA, Sequence Analysis, DNA, Middle Aged, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, Pedigree, Italy, Female, Age of onset

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d09edcc67ef0d869d961809ce69d222fTest
https://doi.org/10.1111/j.1399-0004.2009.01158.xTest