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1Academic Journal
المؤلفون: Giorgio Tasca, Mauro Monforte, Elisabetta Iannaccone, Francesco Laschena, Pierfrancesco Ottaviani, Emanuele Leoncini, Stefania Boccia, Giuliana Galluzzi, Marco Pelliccioni, Marcella Masciullo, Roberto Frusciante, Eugenio Mercuri, Enzo Ricci
المصدر: PLoS ONE, Vol 9, Iss 6, p e100292 (2014)
وصف الملف: electronic resource
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2Academic Journal
المؤلفون: Monica Rossi, Enzo Ricci, Luca Colantoni, Giuliana Galluzzi, Roberto Frusciante, Pietro A Tonali, Luciano Felicetti
المساهمون: The Pennsylvania State University CiteSeerX Archives
المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/72/4a/BMC_Med_Genet_2007_Mar_2_8_8.tar.gz
وصف الملف: application/zip
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3
المؤلفون: Fabiola Moretti, Roberta Morosetti, Sabrina Sacconi, Enzo Ricci, Isabella Cascino, Marsha Pellegrino, Giancarlo Deidda, Giorgio Tasca, Giuliana Galluzzi, Marco Crescenzi, Alfredo Pontecorvi, Emanuela Teveroni, Angela Puma, Matteo Garibaldi, Carlo P. Trevisan, Stefano Farioli-Vecchioli, Patrizia Calandra
المصدر: The Journal of clinical investigation (2017). doi:10.1172/JCI89401
info:cnr-pdr/source/autori:Teveroni, Emanuela; Pellegrino, Marsha; Sacconi, Sabrina; Calandra, Patrizia; Cascino, Isabella; Farioli-Vecchioli, Stefano; Puma, Angela; Garibaldi, Matteo; Morosetti, Roberta; Tasca, Giorgio; Ricci, Enzo; Trevisan, Carlo Pietro; Galluzzi, Giuliana; Pontecorvi, Alfredo; Crescenzi, Marco; Deidda, Giancarlo; Moretti, Fabiola/titolo:Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity./doi:10.1172%2FJCI89401/rivista:The Journal of clinical investigation/anno:2017/pagina_da:/pagina_a:/intervallo_pagine:/volumeمصطلحات موضوعية: 0301 basic medicine, musculoskeletal diseases, Transcriptional Activation, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, medicine.drug_class, DUX4, Cellular differentiation, Estrogen receptor, muscle differentiation, Gene Expression, Biology, Pathogenesis, fshd, Myoblasts, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, estrogen, Myocyte, Facioscapulohumeral muscular dystrophy, Estrogen Receptor beta, Humans, Estrogen receptor beta, Cells, Cultured, Homeodomain Proteins, Estradiol, Medicine (all), Cell Differentiation, Estrogens, General Medicine, medicine.disease, FHSD, muscolar dystrophy, sex, gender, Muscular Dystrophy, Facioscapulohumeral, Settore MED/26 - NEUROLOGIA, Protein Transport, 030104 developmental biology, Endocrinology, Estrogen, myoblast, 030217 neurology & neurosurgery, Research Article
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المؤلفون: Patrizia Calandra, Mauro Monforte, Enzo Ricci, Fabiola Moretti, Silvère M. van der Maarel, Isabella Cascino, Giuliana Galluzzi, Richard J.L.F. Lemmers, Emanuela Teveroni, Giorgio Tasca, Giancarlo Deidda
المصدر: Journal of medical genetics
(2016). doi:10.1136/jmedgenet-2015-103436
info:cnr-pdr/source/autori:Calandra P, Cascino I, Lemmers RJ, Galluzzi G, Teveroni E, Monforte M, Tasca G, Ricci E, Moretti F, van der Maarel SM, Deidda G./titolo:Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2/doi:10.1136%2Fjmedgenet-2015-103436/rivista:Journal of medical genetics (Print)/anno:2016/pagina_da:/pagina_a:/intervallo_pagine:/volume
Journal of Medical Genetics, 53(5), 348-355مصطلحات موضوعية: 0301 basic medicine, Epigenomics, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Bisulfite sequencing, facioscapulohumeral muscular dystrophy, Biology, 03 medical and health sciences, 0302 clinical medicine, DUX4, Diagnosis, Genetics, medicine, Facioscapulohumeral muscular dystrophy, Humans, Epigenetics, Clinical genetics, Molecular genetics, Allele, Muscle, Skeletal, Genetics (clinical), Alleles, Muscle disease, DNA Methylation, medicine.disease, Molecular biology, Muscular Dystrophy, Facioscapulohumeral, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, DNA methylation, Diagnostics tests, Chromosomes, Human, Pair 4, 030217 neurology & neurosurgery, DNA hypomethylation
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5
المؤلفون: Gabriele Siciliano, Ebe Pastorello, Corrado Angelini, P. Cudia, C. Borsato, Laura Palmucci, Enzo Ricci, Rita Di Leo, Francesca Greco, G. Fabbri, Leopoldo Ricciardi, M. Servida, Claudia Manzoli, Lucio Santoro, Giuliana Galluzzi, Rossella Tupler, Leda Volpi, Giuliano Tomelleri, Costanza Lamperti, Liliana Vercelli, Roberto D'Amico, Roberto Frusciante, Michelangelo Cao, Carmelo Rodolico, Maurizio Moggio, Emanuela Bonifazi, Chiara Fiorillo
المصدر: Muscle & Nerve. 42:213-217
مصطلحات موضوعية: Weakness, medicine.medical_specialty, Physiology, business.industry, Concordance, Muscle weakness, medicine.disease, Cellular and Molecular Neuroscience, Cohen's kappa, Physiology (medical), Severity of illness, medicine, Physical therapy, Facioscapulohumeral muscular dystrophy, Neurology (clinical), Muscular dystrophy, medicine.symptom, business, Clinical evaluation
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6
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
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7
المؤلفون: Enzo Ricci, Giacomo Della Marca, Serena Dittoni, Giuliana Galluzzi, Cristina Buccarella, Catello Vollono, Roberto Frusciante, Salvatore Mazza, Pietro Attilio Tonali, Anna Modoni
المصدر: Journal of the Neurological Sciences. 263:49-53
مصطلحات موضوعية: Adult, Male, Sleep Wake Disorders, medicine.medical_specialty, Adolescent, Polysomnography, Statistics as Topic, Disease, Severity of Illness Index, Pittsburgh Sleep Quality Index, Facioscapulohumeral muscular dystrophy, Internal medicine, medicine, Humans, Circadian rhythm, sleep, Muscular dystrophy, Myopathy, Aged, business.industry, Epworth Sleepiness Scale, Middle Aged, medicine.disease, Sleep in non-human animals, Muscular Dystrophy, Facioscapulohumeral, Settore MED/26 - NEUROLOGIA, Neurology, Evaluation Studies as Topic, Physical therapy, Female, Neurology (clinical), medicine.symptom, business
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8Academic Journal
المؤلفون: Isabella Scionti, Francesca Greco, Giulia Ricci, Monica Govi, Patricia Arashiro, Liliana Vercelli, Angela Berardinelli, Corrado Angelini, Michelangelo Cao, Antonio Di muzio, Maurizio Moggio, Lucia Morandi, Enzo Ricci, Carmelo Rodolico, Lucia Ruggiero, Lucio Santoro, Gabriele Siciliano, Giuliano Tomelleri, Carlo pietro Trevisan, Giuliana Galluzzi, Woodring Wright, Mayana Zatz, Rossella Tupler, ANTONINI, Giovanni
المساهمون: Isabella, Scionti, Francesca, Greco, Giulia, Ricci, Monica, Govi, Patricia, Arashiro, Liliana, Vercelli, Angela, Berardinelli, Corrado, Angelini, Antonini, Giovanni, Michelangelo, Cao, Antonio, Di muzio, Maurizio, Moggio, Lucia, Morandi, Enzo, Ricci, Carmelo, Rodolico, Lucia, Ruggiero, Lucio, Santoro, Gabriele, Siciliano, Giuliano, Tomelleri, Carlo pietro, Trevisan, Giuliana, Galluzzi, Woodring, Wright, Mayana, Zatz, Rossella, Tupler
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/22482803; info:eu-repo/semantics/altIdentifier/wos/WOS:000302833400005; volume:90; issue:4; firstpage:628; lastpage:635; numberofpages:8; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11573/486467; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84859478913
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9
المؤلفون: Luciano Pasquini, Antonio Dello Russo, Enzo Ricci, Antonello Damiani, Vincenzo Giglio, Pietro Attilio Tonali, Giuliana Galluzzi, Loredana Messano, Massimiliano Mirabella, Fortunato Mangiola, Vincenzo Pasceri
المصدر: Journal of the American College of Cardiology. 42:309-316
مصطلحات موضوعية: medicine.medical_specialty, Systole, Biopsy, Duchenne muscular dystrophy, Cardiomyopathy, Ventricular Function, Left, Dystrophin, Electrocardiography, Predictive Value of Tests, Internal medicine, medicine, Humans, Child, Observer Variation, biology, business.industry, Ultrasound, Cardiac muscle, Signal Processing, Computer-Assisted, Stroke Volume, Tissue characterization, Myocardial function, medicine.disease, Immunohistochemistry, Pathophysiology, Surgery, Muscular Dystrophy, Duchenne, medicine.anatomical_structure, Echocardiography, Case-Control Studies, Child, Preschool, Disease Progression, biology.protein, Cardiology, Anisotropy, Cardiomyopathies, Cardiology and Cardiovascular Medicine, business, Gene Deletion
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10
المؤلفون: N. Piazzo, Enzo Ricci, P. Tonali, Fortunato Mangiola, Massimiliano Mirabella, Giuliana Galluzzi, Gabriella Silvestri, Luca Colantoni, Stefania Cacurri, S. Servidei, E. Vigneti, L. Felicetti, V. Pasceri, Giancarlo Deidda, B. Merico
المصدر: Annals of Neurology. 45:751-757
مصطلحات موضوعية: Genetics, biology, EcoRI, Locus (genetics), medicine.disease, Phenotype, Neurology, DUX4, Genetic marker, Genotype, biology.protein, medicine, Facioscapulohumeral muscular dystrophy, Neurology (clinical), Muscular dystrophy
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0e57b82124193ab096d6edcadf8bbdcd
https://doi.org/10.1002/1531-8249(199906)45:6<751::aid-ana9>3.0.co;2-m -
11
المؤلفون: B Brambati, Fortunato Mangiola, N. Piazzo, S. Servidei, Luca Colantoni, Pietro Attilio Tonali, B. Merico, E. Vigneti, A Pachı̀, Giancarlo Deidda, L. Felicetti, Giuliana Galluzzi, Stefania Cacurri, Enzo Ricci
المصدر: Neuromuscular Disorders. 9:190-198
مصطلحات موضوعية: Male, Genotype, EcoRI, Genetic Counseling, Prenatal diagnosis, Locus (genetics), Disease, Muscular Dystrophies, Pregnancy, Prenatal Diagnosis, medicine, Humans, Facioscapulohumeral muscular dystrophy, In Situ Hybridization, Fluorescence, Genetics (clinical), Family Health, Gene Rearrangement, Genetics, biology, Haplotype, DNA, medicine.disease, Electrophoresis, Gel, Pulsed-Field, Pedigree, medicine.anatomical_structure, Neurology, Genetic marker, Mutation, Pediatrics, Perinatology and Child Health, biology.protein, Chorionic villi, Female, Neurology (clinical), Chromosomes, Human, Pair 4
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12
المؤلفون: Amelia Morrone, Enrico Zammarchi, Peter C. Scacheri, Maria A. Donati, Rita C. Hoop, Serenella Servidei, Giuliana Galluzzi, Eric P. Hoffman
المصدر: American Journal of Medical Genetics. 69:261-267
مصطلحات موضوعية: Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::33d28892ecb9eaabcd20ed8dee7cf00b
https://doi.org/10.1002/(sici)1096-8628(19970331)69:3<261::aid-ajmg9>3.0.co;2-o -
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المؤلفون: Elisabetta Bucci, Michelangelo Cao, Lucia Morandi, M. Servida, Giovanni Antonini, Francesco Sera, Giuliana Galluzzi, Isabella Scionti, Jessica Daolio, Giuliano Tomelleri, Carmelo Rodolico, Maurizio Moggio, Enzo Ricci, Fabiano Mele, Tiziana Mongini, Lorenzo Maggi, A. Di Muzio, Liliana Vercelli, Elisabetta Iannaccone, Ilaria Frambolli, Giulia Ricci, Lucia Ruggiero, L. Santoro, Ana Nikolic, Roberto D'Amico, Corrado Angelini, Angela Berardinelli, Maruotti, Gabriele Siciliano, Monica Govi, Massimiliano Filosto, R. Di Leo, Ebe Pastorello, Rossella Tupler
المساهمون: G., Ricci, I., Scionti, F., Sera, M., Govi, R., D'Amico, I., Frambolli, F., Mele, M., Filosto, L., Vercelli, Ruggiero, Lucia, A., Berardinelli, C., Angelini, G., Antonini, E., Bucci, M., Cao, J., Daolio, A., Di Muzio, R., Di Leo, G., Galluzzi, E., Iannaccone, L., Maggi, V., Maruotti, M., Moggio, T., Mongini, L., Morandi, A., Nikolic, E., Pastorello, E., Ricci, C., Rodolico, Santoro, Lucio, M., Servida, G., Siciliano, G., Tomelleri, R., Tupler
المصدر: Brain
مصطلحات موضوعية: Proband, Male, Facioscapulohumeral, genotype-phenotype correlations, facioscapulohumeral muscular dystrophy, d4z4 reduced allele, disease expression, penetrance, D4Z4 reduced allele, Disease expression, Facioscapulohumeral muscular dystrophy, Genotype-phenotype correlations, Penetrance, Chromosome Disorders, Disease, human molecular genetics, 0302 clinical medicine, Genotype, Muscular Dystrophy, Registries, Genetics, 0303 health sciences, Middle Aged, Prognosis, Muscular Dystrophy, Facioscapulohumeral, Pedigree, Settore MED/26 - NEUROLOGIA, Pair 4, Female, Chromosome Deletion, Chromosomes, Human, Pair 4, Human, musculoskeletal diseases, Adult, Adolescent, Biology, genotype-phenotype correlation, Chromosomes, genotype–phenotype correlations, 03 medical and health sciences, Young Adult, DUX4, medicine, Humans, Genetic Predisposition to Disease, Allele, Genetic Association Studies, 030304 developmental biology, Aged, Homeodomain Proteins, facioscapulohumeral muscular dystrophy, D4Z4 reduced allele, genotype–phenotype correlations, penetrance, disease expression, Haplotype, Original Articles, medicine.disease, Haplotypes, Neurology (clinical), 030217 neurology & neurosurgery
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14
المؤلفون: Costanza, Lamperti, Greta, Fabbri, Liliana, Vercelli, Roberto, D'Amico, Roberto, Frusciante, Emanuela, Bonifazi, Chiara, Fiorillo, Carlo, Borsato, Michelangelo, Cao, Maura, Servida, Francesca, Greco, Rita, Di Leo, Leda, Volpi, Claudia, Manzoli, Paola, Cudia, Ebe, Pastorello, Leopoldo, Ricciardi, Gabriele, Siciliano, Giuliana, Galluzzi, Carmelo, Rodolico, Lucio, Santoro, Giuliano, Tomelleri, Corrado, Angelini, Enzo, Ricci, Laura, Palmucci, Maurizio, Moggio, Rossella, Tupler
المساهمون: Lamperti, C, Fabbri, G, Vercelli, L, D'Amico, R, Frusciante, R, Bonifazi, E, Fiorillo, C, Borsato, C, Cao, M, Servida, M, Greco, F, Di Leo, R, Volpi, L, Manzoli, C, Cudia, P, Pastorello, E, Ricciardi, L, Siciliano, G, Galluzzi, G, Rodolico, C, Santoro, Lucio, Tomelleri, G, Angelini, C, Ricci, E, Palmucci, L, Moggio, M, Tupler, R.
مصطلحات موضوعية: Adult, Aged, 80 and over, Male, clinical evaluation form, FSHD, Muscle Weakness, severity score, facioscapulohumeral muscular dystrophy, Adolescent, clinical severity score, Reproducibility of Results, Middle Aged, Severity of Illness Index, Muscular Dystrophy, Facioscapulohumeral, muscle weakness distribution, Kappa-statistic, Humans, Female, Aged
وصف الملف: ELETTRONICO
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15
المؤلفون: Laura Palmucci, Tiziana Mongini, Gino Marioni, Alessandro Rimini, Ebe Pastorello, Corrado Angelini, Rossella Tupler, Giuliana Galluzzi, Carlo P. Trevisan, Paola Tonin, Mario Ermani, Giuliano Tomelleri
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Facioscapulohumeral muscular dystrophy, Audiometry, Hearing loss, Adolescent, Hear Involvement, Physiology, Hearing Loss, Sensorineural, Audiology, Facioscapulohumeral dystrophy, # Audiometry, Speech and Hearing, Risk Factors, medicine, Prevalence, Humans, Genetic Predisposition to Disease, Muscular dystrophy, Myopathy, Hearing Function, Aged, Aged, 80 and over, Gene Rearrangement, medicine.diagnostic_test, business.industry, Gene rearrangement, Middle Aged, medicine.disease, Sensory Systems, Muscular Dystrophy, Facioscapulohumeral, Otorhinolaryngology, Audiometry, Pure-Tone, Sensorineural hearing loss, Female, medicine.symptom, Age of onset, Chromosomes, Human, Pair 4, business
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المؤلفون: Sara Benedetti, Maurizio Ferrari, Isabella Mammi, M. Olivè, Isabella Moroni, Laura Palmucci, Angela Berardinelli, Stefano C. Previtali, I. Menditto, Adele D'Amico, Carmelo Rodolico, Giuliana Galluzzi, G. Comi, Enrico Bertini, Carlo P. Trevisan, Raffaella Fazio, Massimo Degano, Elena Pegoraro, Luciano Merlini, Angelo Quattrini, Francesca Mari, R. Caldara, Gisèle Bonne, Paola Carrera, A. Toscano, D. Toniolo, Lucia Morandi
المساهمون: Benedetti, S, Menditto, I, Degano, M, Rodolico, C, Merlini, L, D'Amico, A, Palmucci, L, Berardinelli, A, Pegoraro, E, Trevisan, Cp, Morandi, L, Moroni, I, Galluzzi, G, Bertini, E, Toscano, A, Olive, M, Bonne, G, Mari, F, Caldara, R, Fazio, R, Mammi, I, Carrera, P, Toniolo, D, Comi, Giancarlo, Quattrini, A, Ferrari, Maurizio, Previtali, Sc
المصدر: Università degli Studi di Siena-IRIS
مصطلحات موضوعية: Adult, Genetic Markers, Heart Diseases, DNA Mutational Analysis, Mutation, Missense, lamin A/C, neuromuscular disorders, LMNA gene, Biology, medicine.disease_cause, Frameshift mutation, LMNA, Cohort Studies, medicine, Missense mutation, Cluster Analysis, Humans, Genetic Predisposition to Disease, Age of Onset, Myopathy, Child, Frameshift Mutation, Muscle, Skeletal, Loss function, Genetics, Mutation, Myocardium, Neuromuscular Diseases, Lamin Type A, Lamins, Phenotype, Haplotypes, Child, Preschool, Disease Progression, Neurology (clinical), Age of onset, medicine.symptom, Haploinsufficiency
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المؤلفون: Adele D'Amico, Gabriella Silvestri, Claudio Bruno, Anna Modoni, Camilla Bernardini, Marina Pedemonte, Enzo Ricci, Pietro Attilio Tonali, Giorgio Tasca, Mario Pescatori, Vincenzo Giglio, Aldobrando Broccolini, Enrico Bertini, Giuliana Galluzzi, Eugenio Mercuri, Massimiliano Mirabella, Carlo Minetti
المصدر: FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 21(4)
مصطلحات موضوعية: Muscle tissue, Time Factors, Duchenne muscular dystrophy, Biology, Biochemistry, Mice, DMD, Gene expression, Genetics, medicine, Animals, Humans, Genetic Predisposition to Disease, Muscular dystrophy, microarrays, Molecular Biology, Gene, Regulation of gene expression, Inflammation, Genome, Gene Expression Profiling, Muscles, Age Factors, Skeletal muscle, Infant, medicine.disease, Molecular biology, Gene expression profiling, Muscular Dystrophy, Duchenne, Settore MED/26 - NEUROLOGIA, medicine.anatomical_structure, Gene Expression Regulation, Child, Preschool, Cancer research, Disease Progression, microarray, Biotechnology
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المؤلفون: Fortunato Mangiola, Antonio Russo, Quintino Parisi, Teresa Gidaro, Vincenzo Pasceri, Vincenzo Giglio, Loredana Messano, Mario Pescatori, Luciano Pasquini, A. Broccolini, Massimiliano Mirabella, Enzo Ricci, Giuliana Galluzzi, Gabriele Rinelli
المصدر: Journal of the American College of Cardiology. 47(3)
مصطلحات موضوعية: musculoskeletal diseases, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Adolescent, Disease, Asymptomatic, Exon, medicine, Humans, Allele, Muscular dystrophy, Integrated backscatter, Child, business.industry, Ultrasound, Anatomy, musculoskeletal system, medicine.disease, Phenotype, Myocardial Contraction, Muscular Dystrophy, Duchenne, Echocardiography, Child, Preschool, medicine.symptom, Cardiology and Cardiovascular Medicine, business
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المؤلفون: Ebe Pastorello, Corrado Angelini, Carlo P. Trevisan, Paola Tonin, Mario Armani, Rossella Tupler, Agata Barchitta, Tiziana Mongini, Giuliano Tomelleri, Giovanni Nante, Laura Palmucci, Giuliana Galluzzi
مصطلحات موضوعية: musculoskeletal diseases, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Heart disease, Adolescent, MEDLINE, Severity of Illness Index, Heart arrhythmia, Facioscapulohumeral muscular dystrophy, Risk Factors, Internal medicine, Severity of illness, medicine, Humans, Muscular dystrophy, Aged, Neurologic Examination, business.industry, Facioscapulohumeral muscular dystrophy Heart involvement Arrhythmia, Arrhythmias, Cardiac, Middle Aged, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, Neurology, Multicenter study, Molecular Diagnostic Techniques, Echocardiography, Physical therapy, Heart involvement, Arrhythmia, Female, Neurology (clinical), business, Cardiac symptoms
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المؤلفون: L. Felicetti, Giuliana Galluzzi
مصطلحات موضوعية: Pulsed-field gel electrophoresis, medicine, Facioscapulohumeral muscular dystrophy, Biology, medicine.disease, Molecular biology, Gene