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1دورية أكاديمية
المؤلفون: Francesca Cristofoli, Muharrem Daja, Paolo Enrico Maltese, Giulia Guerri, Benedetta Tanzi, Roberta Miotto, Gabriele Bonetti, Jan Miertus, Pietro Chiurazzi, Liborio Stuppia, Valentina Gatta, Stefano Cecchin, Matteo Bertelli, Giuseppe Marceddu
المصدر: Genes, Vol 14, Iss 8, p 1600 (2023)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Leonardo Gatticchi, Jan Miertus, Paolo Enrico Maltese, Simone Bressan, Luca De Antoni, Ludmila Podracká, Lucia Piteková, Vanda Rísová, Mari Mällo, Kaie Jaakson, Kairit Joost, Leonardo Colombo, Matteo Bertelli
المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
مصطلحات موضوعية: Alström syndrome, ALMS1, Next generation sequencing, Case report, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Vladimir Frecer, Giancarlo Iarossi, Anna Paola Salvetti, Paolo Enrico Maltese, Giulia Delledonne, Marta Oldani, Giovanni Staurenghi, Benedetto Falsini, Angelo Maria Minnella, Lucia Ziccardi, Adriano Magli, Leonardo Colombo, Fabiana D’Esposito, Jan Miertus, Francesco Viola, Marcella Attanasio, Emilia Maggio, Matteo Bertelli
المصدر: Journal of Translational Medicine, Vol 17, Iss 1, Pp 1-15 (2019)
مصطلحات موضوعية: Best vitelliform macular dystrophy, Best disease, Best-corrected visual acuity, Computational structural biology, Medicine
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Leonardo Gatticchi, Dominika Vešelényiová, Jan Miertus, Paolo Enrico Maltese, Elena Manara, Alisia Costantini, Sabrina Benedetti, Darina Ďurovčíková, Juraj Krajcovic, Matteo Bertelli
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 4, Pp n/a-n/a (2021)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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5دورية أكاديمية
المؤلفون: Francesca Cristofoli, Elisa Sorrentino, Giulia Guerri, Roberta Miotto, Roberta Romanelli, Alessandra Zulian, Stefano Cecchin, Stefano Paolacci, Jan Miertus, Matteo Bertelli, Paolo Enrico Maltese, Pietro Chiurazzi, Liborio Stuppia, Marco Castori, Giuseppe Marceddu
المصدر: Genes, Vol 12, Iss 12, p 1885 (2021)
مصطلحات موضوعية: variant interpretation, ACMG, VarSome, Genetics, QH426-470
وصف الملف: electronic resource
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6
المؤلفون: Michaela Hýblová, Vanda Rísová, Jan Miertus, Darina Ďurovčíková, Erika Tomková, Matteo Bertelli, Paolo Enrico Maltese
المصدر: Journal of Biotechnology. 311:44-48
مصطلحات موضوعية: Male, 0106 biological sciences, 0301 basic medicine, Proband, Pathology, medicine.medical_specialty, Bioengineering, Compound heterozygosity, 01 natural sciences, Applied Microbiology and Biotechnology, 03 medical and health sciences, Thyroid dyshormonogenesis, Bilateral radial aplasia, Pathognomonic, 010608 biotechnology, Congenital Hypothyroidism, medicine, Congenital Bone Marrow Failure Syndromes, Humans, Genetic Testing, Upper Extremity Deformities, Congenital, Exome sequencing, business.industry, TAR syndrome, Infant, RNA-Binding Proteins, General Medicine, medicine.disease, Thrombocytopenia, Radius, Phenotype, 030104 developmental biology, Mutation, Absent radius, business, Biotechnology
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7
المؤلفون: Elisa Sorrentino, Elena Albion, Chiara Modena, Muharrem Daja, Stefano Cecchin, Stefano Paolacci, Jan Miertus, Matteo Bertelli, Paolo Enrico Maltese, Pietro Chiurazzi, Liborio Stuppia, Leonardo Colombo, Giuseppe Marceddu
المصدر: Gene. 832
مصطلحات موضوعية: Heterozygote, Leber Congenital Amaurosis, Mutation, Retinal Dystrophies, Genetics, Humans, General Medicine, Sequence Analysis, DNA, Retinitis Pigmentosa, Pedigree
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8
المؤلفون: Paolo Enrico Maltese, Dominika Veselenyiova, Darina Ďurovčíková, Jan Miertus, Leonardo Gatticchi, Matteo Bertelli, Juraj Krajcovic, Elena Manara, Alisia Costantini, Sabrina Benedetti
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 4, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicineمصطلحات موضوعية: Adult, 0301 basic medicine, Heterozygote, RNA Splicing, rMED, Mutation, Missense, ABCA4, 030105 genetics & heredity, SLC26A2, QH426-470, Osteochondrodysplasias, Multiple epiphyseal dysplasia, Consanguinity, 03 medical and health sciences, symbols.namesake, Genotype, medicine, Genetics, Humans, Stargardt Disease, Missense mutation, Molecular Biology, Genetics (clinical), Genetic testing, Sanger sequencing, medicine.diagnostic_test, biology, Homozygote, Original Articles, medicine.disease, STGD1, Pedigree, Stargardt disease, Phenotype, 030104 developmental biology, Sulfate Transporters, biology.protein, symbols, Original Article, ATP-Binding Cassette Transporters, Female
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9
المؤلفون: Simone Bressan, Leonardo Gatticchi, Paolo Enrico Maltese, Leonardo Colombo, Ludmila Podracká, Vanda Rísová, Luca De Antoni, Kaie Jaakson, Mari Mällo, Jan Miertus, Lucia Piteková, Matteo Bertelli, Kairit Joost
المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)مصطلحات موضوعية: 0301 basic medicine, lcsh:Internal medicine, Heterozygote, lcsh:QH426-470, Case Report, Cell Cycle Proteins, 030105 genetics & heredity, Compound heterozygosity, Bioinformatics, DNA sequencing, Frameshift mutation, 03 medical and health sciences, symbols.namesake, Next generation sequencing, Genetics, medicine, Hyperinsulinemia, Humans, lcsh:RC31-1245, Frameshift Mutation, Genetics (clinical), Alstrom Syndrome, Genetic testing, Sanger sequencing, medicine.diagnostic_test, business.industry, High-Throughput Nucleotide Sequencing, Infant, medicine.disease, Human genetics, lcsh:Genetics, 030104 developmental biology, ALMS1, Early Diagnosis, Codon, Nonsense, Alström syndrome, Mutation, symbols, Female, business
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10
المؤلفون: Paolo Enrico Maltese, Marco Castori, Roberta Miotto, Giulia Guerri, Alessandra Zulian, Jan Miertus, Roberta Romanelli, Giuseppe Marceddu, Matteo Bertelli, Pietro Chiurazzi, Francesca Cristofoli, Elisa Sorrentino, S. Cecchin, Liborio Stuppia, Stefano Paolacci
المصدر: Genes, Vol 12, Iss 1885, p 1885 (2021)
Genesمصطلحات موضوعية: Computer science, Context (language use), QH426-470, Machine learning, computer.software_genre, Interpretation (model theory), Genetics, Humans, Genetic Testing, Genetics (clinical), Selection (genetic algorithm), Genome, Human, business.industry, Communication, variant interpretation, Computational Biology, Genetic Variation, Genomics, Evidence-based medicine, Pipeline (software), Automation, VarSome, Workflow, ACMG, Artificial intelligence, business, computer, Classifier (UML)