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المؤلفون: Raffaella Cascella, Claudia Strafella, Luca Colantoni, Giulia Campoli, Chiara Orsini, Enzo Ricci, Rosaria Maria Galota, Valerio Caputo, Cristina Bax, Giulietta Minozzi, Emiliano Giardina, Luisa Politano, Giuseppe Novelli, Giorgio Tasca
المساهمون: Strafella, Claudia, Caputo, Valerio, Galota, Rosaria Maria, Campoli, Giulia, Bax, Cristina, Colantoni, Luca, Minozzi, Giulietta, Orsini, Chiara, Politano, Luisa, Tasca, Giorgio, Novelli, Giuseppe, Ricci, Enzo, Giardina, Emiliano, Cascella, Raffaella
المصدر: Human Molecular Genetics
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Sequence analysis, Chromosomal Proteins, Non-Histone, Facio-scapulo-humeral-dystrophy - FSHD - SMCHD1 gene, Biology, medicine.disease_cause, fshd, 03 medical and health sciences, Exon, 0302 clinical medicine, Genetics, medicine, Facioscapulohumeral muscular dystrophy, Humans, Muscular dystrophy, Molecular Biology, Gene, 3' Untranslated Regions, Genetics (clinical), Aged, Mutation, Three prime untranslated region, Intron, High-Throughput Nucleotide Sequencing, General Medicine, Exons, Sequence Analysis, DNA, Middle Aged, medicine.disease, Introns, Muscular Dystrophy, Facioscapulohumeral, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Phenotype, Italy, Settore MED/03 - Genetica Medica, Female, General Article, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae7b9aec65db93218d058f880f55697aTest
http://hdl.handle.net/10807/147346Test -
2دورية أكاديمية
المساهمون: Strafella, C., Caputo, V., Galota, R. M., Campoli, G., Bax, C., Colantoni, L., Minozzi, G., Orsini, C., Politano, L., Tasca, Giorgio, Novelli, G., Ricci, Enzo, Giardina, E., Cascella, R.
مصطلحات موضوعية: fshd, Settore MED/26 - NEUROLOGIA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31600781; info:eu-repo/semantics/altIdentifier/wos/WOS:000509925500003; volume:28; issue:23; firstpage:3912; lastpage:3920; numberofpages:9; issueyear:2019; journal:HUMAN MOLECULAR GENETICS; http://hdl.handle.net/10807/147346Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85078291549; http://hmg.oxfordjournals.orgTest/
الإتاحة: https://doi.org/10.1093/hmg/ddz239Test
http://hdl.handle.net/10807/147346Test
http://hmg.oxfordjournals.orgTest/ -
3مورد إلكتروني
مصطلحات الفهرس: fshd, Settore MED/26 - NEUROLOGIA, info:eu-repo/semantics/article
URL:
http://hdl.handle.net/10807/147346Test http://hmg.oxfordjournals.orgTest/
info:eu-repo/semantics/altIdentifier/pmid/31600781
info:eu-repo/semantics/altIdentifier/wos/WOS:000509925500003
volume:28
issue:23
firstpage:3912
lastpage:3920
numberofpages:9
issueyear:2019
journal:HUMAN MOLECULAR GENETICS