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1دورية أكاديمية
المؤلفون: Shaw, Natalie, Selvatici, Rita, Ferlini, Alessandra, Voermans, Nicol, van Engelen, Baziel, Sacconi, Sabrina, Tawil, Rabi, Lamers, Meindert, van der Maarel, Silvère, Lemmers, Richard, van der Stoep, Nienke, Vliet, Patrick, Moore, Steven, San Leon Granado, David, Johnson, Katherine, Topf, Ana, Straub, Volker, Evangelista, Teresinha, Kimonis, Virginia, Mozaffar, Tahseen
المصدر: Journal of Medical Genetics. 56(10)
مصطلحات موضوعية: ATPase domain, BAMS, D4Z4, DUX4, FSHD, SMCHD1, mutation spectrum, Adenosine Triphosphatases, Choanal Atresia, Chromosomal Proteins, Non-Histone, DNA Methylation, Female, Genetic Variation, Humans, Male, Microphthalmos, Muscular Dystrophy, Facioscapulohumeral, Mutation, Mutation, Missense, Nose, Protein Domains
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/32j9681gTest
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2دورية أكاديمية
المؤلفون: Lemmers, Richard JLF, van der Stoep, Nienke, Vliet, Patrick J van der, Moore, Steven A, San Leon Granado, David, Johnson, Katherine, Topf, Ana, Straub, Volker, Evangelista, Teresinha, Mozaffar, Tahseen, Kimonis, Virginia, Shaw, Natalie D, Selvatici, Rita, Ferlini, Alessandra, Voermans, Nicol, van Engelen, Baziel, Sacconi, Sabrina, Tawil, Rabi, Lamers, Meindert, van der Maarel, Silvère M
المصدر: Journal of medical genetics. 56(10)
مصطلحات موضوعية: Nose, Humans, Muscular Dystrophy, Facioscapulohumeral, Choanal Atresia, Microphthalmos, Chromosomal Proteins, Non-Histone, DNA Methylation, Mutation, Mutation, Missense, Female, Male, Adenosine Triphosphatases, Genetic Variation, Protein Domains, ATPase domain, BAMS, D4Z4, DUX4, FSHD, SMCHD1, mutation spectrum, Genetics, Muscular Dystrophy, Brain Disorders, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Facioscapulohumeral Muscular Dystrophy, 2.1 Biological and endogenous factors, Aetiology, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/0107b4rwTest
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3
المؤلفون: Fan Yang, Depeng Wang, Liying Cui, Yu Huang, Pidong Li, Shangzhi Huang, Zhi-Qiang Wang, Kai Wang, Jiapeng Zhou, Li Fang, Fan Liang, Yi Dai
المصدر: Journal of Medical Genetics
مصطلحات موضوعية: musculoskeletal diseases, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, facioscapulohumeral muscular dystrophy, Computational biology, Biology, macrosatellite, Young Adult, Segmental Duplications, Genomic, Tandem repeat, Methods, Genetics, medicine, Humans, Facioscapulohumeral muscular dystrophy, Muscular dystrophy, Allele, Alleles, Genetics (clinical), Segmental duplication, Southern blot, FSHD, D4Z4, Haplotype, DNA, Middle Aged, Telomere, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, Single Molecule Imaging, Pedigree, Restriction enzyme, Haplotypes, Tandem Repeat Sequences, single-molecule optical mapping, Female, Chromosomes, Human, Pair 4
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f0164ec2609c29ef569811b520343faTest
https://doi.org/10.1136/jmedgenet-2019-106078Test -
4
المؤلفون: Teresinha Evangelista, Silvère M. van der Maarel, Sabrina Sacconi, Meindert Lamers, Steven A. Moore, Nienke van der Stoep, Natalie D Shaw, Tahseen Mozaffar, David San Leon Granado, Richard J.L.F. Lemmers, Volker Straub, Alessandra Ferlini, Ana Töpf, Rita Selvatici, Patrick J. van der Vliet, Rabi Tawil, Virginia Kimonis, Baziel G.M. van Engelen, Katherine Johnson, Nicol C. Voermans
المصدر: Journal of Medical Genetics, 56, 693-700
Journal of Medical Genetics, 56, 10, pp. 693-700مصطلحات موضوعية: Male, DUX4, Chromosomal Proteins, Non-Histone, ATPase, Mutation, Missense, Socio-culturale, Locus (genetics), Nose, ATPase domain, Choanal Atresia, Article, Protein Domains, Genetics, medicine, Missense mutation, Facioscapulohumeral muscular dystrophy, Humans, Microphthalmos, Genetics (clinical), BAMS, Adenosine Triphosphatases, FSHD, D4Z4, biology, SMCHD1, food and beverages, Genetic Variation, Methylation, DNA Methylation, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Phenotype, Muscular Dystrophy, Facioscapulohumeral, mutation spectrum, Mutation, biology.protein, Female, DNA hypomethylation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17ae12f23596a18b751e59cf32484063Test
https://pubmed.ncbi.nlm.nih.gov/31243061Test