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1دورية أكاديمية
المؤلفون: Antonietta Zappu, Simona Incollu, Francesca Chiappe, Maria Barbara Lepori, Georgios Loudianos
المصدر: Journal of Pediatric and Neonatal Individualized Medicine, Vol 5, Iss 1, Pp e050109-e050109 (2015)
مصطلحات موضوعية: gene, dna, treatment, metabolism, rare, villus, Medicine, Pediatrics, RJ1-570
وصف الملف: electronic resource
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المؤلفون: Eva Mameli, Valentina Dessì, Antonietta Zappu, Antonio Cao, Simona Incollu, Maria Barbara Lepori, Stefano De Virgiliis, Giovanni Garrucciu, Georgios Loudianos
المصدر: Digestive and Liver Disease. 45:342-345
مصطلحات موضوعية: Adult, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, DNA Mutational Analysis, Disease, Biology, Asymptomatic, Hepatolenticular Degeneration, otorhinolaryngologic diseases, medicine, Humans, Aspartate Aminotransferases, Allele, Cation Transport Proteins, Gene, Alleles, Genetic testing, Adenosine Triphosphatases, Genetics, Postmortem Diagnosis, Hepatology, medicine.diagnostic_test, Genetic Carrier Screening, Gastroenterology, Ceruloplasmin, nutritional and metabolic diseases, Alanine Transaminase, Middle Aged, medicine.disease, digestive system diseases, Wilson's disease, Italy, Copper-Transporting ATPases, Mutation, Female, medicine.symptom, Copper
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3
المؤلفون: Alessandro Gialluisi, Simona Incollu, Tommaso Pippucci, Georgios Loudianos, Giovanni Romeo, Maria Barbara Lepori, Antonietta Zappu
المصدر: European Journal of Human Genetics
Europe PubMed Centralمصطلحات موضوعية: Genetics, homozygosity index, genetic epidemiology, Sardinian population, Short Report, Heterozygote advantage, Disease, Biology, Compound heterozygosity, Corrigenda, consanguinity, Genetic epidemiology, Wilson disease, Mutation (genetic algorithm), Inbreeding, Allele frequency, Genetics (clinical)
وصف الملف: application/pdf
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4
المؤلفون: Maria Teresa Pellecchia, Antonietta Zappu, Pietro Vajro, Raffaella Giacchino, Stefano De Virgiliis, A. Solinas, Matilde Marcellini, Valentina Dessì, Raffaele Iorio, Mario Lovicu, Anna Maria Giulia Farci, Simona Incollu, Lucia Zancan, Antonio Cao, Vladimir S. Kostic, Giuseppe Maggiore, Georgios Loudianos, Rosanna Simonetti, Cristiana Barbera, Maria Barbara Lepori
المساهمون: Lepori, Mb, Lovicu, M, Dessi, V, Zappu, A, Incollu, S, Zancan, L, Giacchino, R, Iorio, Raffaele, Vajro, Pietro, Maggiore, G, Marcellini, M., Barbera, C, Pellecchia, Mt, Simonetti, R, Kostic, V, Farci, Am, Solinas, A, DE VIRGILIIS, S, Cao, A, Loudianos, G.
المصدر: Genetic Testing. 11:328-332
مصطلحات موضوعية: Adenosine Triphosphatases, Genetics, Mutation, Atp7b gene, DNA Mutational Analysis, Socio-culturale, Single-strand conformation polymorphism, Disease, Biology, medicine.disease_cause, Molecular analysis, Hepatolenticular Degeneration, Italy, children, Copper-Transporting ATPases, medicine, Mutation testing, Humans, genetic, Cation Transport Proteins, Copper-transporting ATPases, Genetics (clinical), Wilson disease
وصف الملف: STAMPA
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a63f6b4cb296936cd1197b008f73166
https://doi.org/10.1089/gte.2007.0015 -
5
المؤلفون: Maria Barbara Lepori, Simona Incollu, Antonio Cao, Stefano De Virgiliis, Georgios Loudianos, Maria Cristina Noli, Antonietta Zappu
المصدر: Molecular and Cellular Probes. 24:233-235
مصطلحات موضوعية: Biology, medicine.disease_cause, Polymerase Chain Reaction, chemistry.chemical_compound, Hepatolenticular Degeneration, TaqMan, medicine, Humans, Taq Polymerase, Genetic Testing, Allele, Molecular Biology, Alleles, Mass screening, Genetics, Mutation, Atp7b gene, DNA, Cell Biology, Allelic discrimination, medicine.disease, Molecular biology, Wilson's disease, Italy, chemistry, Biological Assay
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6
المؤلفون: Eva Mameli, Antonio Cao, Liana Gheorghe, Luisa Bonafé, Maria Barbara Lepori, Georgios Loudianos, Giuseppe Maggiore, Paolo Angeli, Vincenzo Leuzzi, Valentina Dessì, Simona Incollu, Marco Sciveres, Antonietta Zappu, Patrizia Barone, Luigi Demelia, Carlo Casali, Anna Maria Nurchi, Giuseppe Indolfi
المصدر: Molecular and cellular probes. 26(4)
مصطلحات موضوعية: Genotype, wilson disease, DNA Mutational Analysis, Socio-culturale, Disease, Biology, DNA sequencing, White People, Hepatolenticular Degeneration, ATP7B, Diagnosis, Missense, Mutation, Prevention, Wilson's disease, medicine, Missense mutation, Humans, Molecular Biology, Cation Transport Proteins, Genetics, Adenosine Triphosphatases, Cell Biology, Sequence Analysis, DNA, medicine.disease, Phenotype, Italy, Copper-Transporting ATPases, Mutation (genetic algorithm), Mutation testing, atp7b gene mutations, atp7b, diagnosis, missense, mutation, prevention, wilson's disease
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المؤلفون: Valentina Dessì, Simona Incollu, Luisa Bonafé, Antonio Cao, Nuria Garcia Dépraz, Antonietta Zappu, Stefano De Virgiliis, Georgios Loudianos, Eva Mameli, Maria Barbara Lepori, Maria Cristina Noli
المصدر: Molecular and cellular probes. 26(2)
مصطلحات موضوعية: Transcription, Genetic, Hepatosplenomegaly, Biology, medicine.disease_cause, chemistry.chemical_compound, Exon, Hepatolenticular Degeneration, Consensus Sequence, Consensus sequence, medicine, Humans, Point Mutation, Protein Isoforms, Child, Molecular Biology, Cation Transport Proteins, Genetics, Adenosine Triphosphatases, Mutation, Base Sequence, Sequence Analysis, RNA, Point mutation, Homozygote, RNA, Cell Biology, Molecular biology, chemistry, Molecular Diagnostic Techniques, Copper-Transporting ATPases, RNA splicing, Female, RNA Splice Sites, medicine.symptom, DNA
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8
المؤلفون: Maria Cristina Noli, Raffaele Iorio, Antonietta Zappu, Maria Barbara Lepori, Antonio Cao, Eva Mameli, Valentina Dessì, Simona Incollu, Georgios Loudianos, Giusy Ranucci
المساهمون: Incollu, S, Lepori, Mb, Zappu, A, Dessì, V, Noli, Mc, Mameli, E, Iorio, Raffaele, Ranucci, Giusy, Cao, A, Loudianos, G.
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Genetic counseling, Molecular Sequence Data, Genes, Recessive, Genetic Counseling, Disease, Biology, medicine.disease_cause, chemistry.chemical_compound, Exon, Consanguinity, Hepatolenticular Degeneration, otorhinolaryngologic diseases, medicine, Humans, Molecular Biology, Cation Transport Proteins, Sequence Deletion, Genetics, Adenosine Triphosphatases, Mutation, Atp7b gene, Base Sequence, Sequence Analysis, RNA, Homozygote, Intron, nutritional and metabolic diseases, RNA, Cell Biology, DNA, Exons, Sequence Analysis, DNA, Molecular biology, Introns, chemistry, Italy, Copper-Transporting ATPases, Multiplex Polymerase Chain Reaction
وصف الملف: STAMPA
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4508ff099c9a0626cb079b38cdff1b6f
http://hdl.handle.net/11588/467505 -
9
المؤلفون: Giuseppe Maggiore, Raffaele Iorio, Antonio Cao, Antonietta Zappu, Maria Barbara Lepori, Valentina Dessì, Simona Incollu, Maria Teresa Pellecchia, Mario Lovicu, Mariangela D'Ambrosi, Paolo Barone, Georgios Loudianos, Stefano De Virgiliis
المساهمون: Lovicu, M, Lepori, Mb, Incollu, S, Dessì, V, Zappu, A, Iorio, R, D'Ambrosi, M, Pellecchia, Mt, Barone, Paolo, Maggiore, G, De Virgiliis, S, Cao, A, Loudianos, G., Lovicu, M., Lepori, M. B., Incollu, S., Dessì, V., Zappu, A., Iorio, Raffaele, D'Ambrosi, M., Pellecchia, M. T., Barone, P., Maggiore, G., De Virgiliis, S., Cao, A.
مصطلحات موضوعية: Male, Adolescent, RNA Splicing, Mutation, Missense, Socio-culturale, Genes, Recessive, Biology, medicine.disease_cause, Age of Onset, Child, Child, Preschool, Consensus Sequence, Female, Hepatolenticular Degeneration, Humans, Introns, Italy, RNA, Mutation, Genetics (clinical), chemistry.chemical_compound, Consensus sequence, medicine, Missense mutation, Recessive, Preschool, Gene, Genetics, Intron, General Medicine, Molecular biology, chemistry, Genes, RNA splicing, Missense, DNA
وصف الملف: STAMPA
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a61bdd4a54a17cd048865797cf1c9215
http://hdl.handle.net/11392/2387208 -
10دورية
المؤلفون: Antonietta, Zappu, Olympia, Magli, Lepori, Maria Barbara, Valentina, Dessì, Stefania, Diana, Simona, Incollu, Emmanuel, Kanavakis, Polyxeni, Nicolaidou, Nina, Manolaki, Andreas, Fretzayas, Stefano, De Virgiliis, Antonio, Cao, Georgios, Loudianos
المصدر: Journal of Pediatric Gastroenterology & Nutrition; September 2008, Vol. 47 Issue: 3 p334-338, 5p