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المؤلفون: Sean Massey, Wendy A. Gold, Miya St John, Dean Phelan, Elena Savva, Nicole J Van Bergen, Susan M. White, John Christodoulou, Sze Chern Lim, Michelle C Torres, Alessandra Murgia, Kristin A Rigbye, Simranpreet Kaur, Melanie Marty, Teresa Zhao, Emanuela Leonardi, Bruria Ben-Zeev, Benjamin Kamien, David Coman, Tiong Yang Tan
المصدر: Journal of Genetics and Genomics. 47:650-654
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Microcephaly, Adolescent, CDKL5, Rett syndrome, Biology, MECP2, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Rett Syndrome, Genetics, medicine, Humans, Genetic Predisposition to Disease, Child, Molecular Biology, Histone Acetyltransferases, 030304 developmental biology, 0303 health sciences, Stereotypic hand movements, Lysine Acetyltransferases, FORKHEAD BOX G1, medicine.disease, FOXG1, Child, Preschool, Female, Genetic diagnosis, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c96991d5ec2eaaa44197efc6bab7dc7cTest
https://doi.org/10.1016/j.jgg.2020.09.003Test -
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المؤلفون: Rosamaria Santarelli, A. Sensi, Elona Cama, Pietro Scimemi, Maria Cristina Aspromonte, Elisa Bettella, Federica Cesca, Roberta Polli, Stefania Bigoni, Andrea Ciorba, Franco Stanzial, Barbara Sicilian, Emanuela Leonardi, Alessandra Murgia, Francesco Benedicenti
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, Hearing loss, Usher syndrome, Hearing Loss, Sensorineural, Cadherin Related Proteins, 030105 genetics & heredity, Gene mutation, Biology, Deafness, Sensorineural, 03 medical and health sciences, Young Adult, Genetic Heterogeneity, otorhinolaryngologic diseases, Genetics, medicine, Connexin 30, Humans, Child, Preschool, Hearing Loss, Gene, Genetics (clinical), Genetic Association Studies, Genetic heterogeneity, High-Throughput Nucleotide Sequencing, medicine.disease, Cadherins, Phenotype, Connexin 26, 030104 developmental biology, Child, Preschool, Mutation, biology.protein, Sensorineural hearing loss, Female, Usher Syndromes, medicine.symptom, GJB6
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cf17a04343cb36b875fc056a9c670e3Test
http://hdl.handle.net/11577/3342974Test -
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المؤلفون: Alessandra Murgia, D. Pavan, Annamaria Guiotto, F. Cibin, Roberta Polli, W. Piatkowska, S. Voltan, Zimi Sawacha, M. Romanato, Fabiola Spolaor
مصطلحات موضوعية: Fragile X syndrome, Genetics, Rehabilitation, Biophysics, medicine, Orthopedics and Sports Medicine, Biology, medicine.disease, Disease cluster
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77c39d3ca3fbbdd36cb10f163205fdeeTest
http://hdl.handle.net/11577/3378098Test -
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المؤلفون: Yuxiang Jiang, Jingqi Chen, Silvio C. E. Tosatto, Mariagrazia Bellini, Zhiqiang Hu, John Moult, Olivier Lichtarge, Ivan Limongelli, Francesco Reggiani, Alexander Miguel Monzon, Stephen J. Wilson, Panagiotis Katsonis, Kymberleigh A. Pagel, Marco Carraro, Predrag Radivojac, Alessandra Murgia, Kunal Kundu, Emanuela Leonardi, Carlo Ferrari, Gaia Andreoletti, Steven E. Brenner, Yaqiong Wang, Lipika R. Pal, Maria Cristina Aspromonte, Yizhou Yin, Luigi Chiricosta
المصدر: Hum Mutat
مصطلحات موضوعية: Male, Microcephaly, Ataxia, Autism Spectrum Disorder, Quantitative Trait Loci, Biology, Bioinformatics, Article, genetic testing, 03 medical and health sciences, community challenge, critical assessment, phenotype prediction, variant interpretation, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetics (clinical), 030304 developmental biology, Genetic testing, 0303 health sciences, medicine.diagnostic_test, 030305 genetics & heredity, Macrocephaly, Computational Biology, Sequence Analysis, DNA, medicine.disease, Comorbidity, Hypotonia, Phenotype, Autism, Female, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f3adb42e4f43cb31af1346d39fb4686Test
https://europepmc.org/articles/PMC7341177Test/ -
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المؤلفون: Emanuela Leonardi, Roberto Michelucci, Stefano Pascarelli, Maria Cristina Aspromonte, Alessandra Murgia, Carlo Nobile, Emanuela Dazzo, Francesco Tabaro, Silvio C. E. Tosatto
المصدر: Epilepsy research. 139
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, CNTNAP2, Neurology, CASPR2, DNA Copy Number Variations, Nerve Tissue Proteins, Disease, Biology, medicine.disease_cause, DNA sequencing, 03 medical and health sciences, Epilepsy, medicine, Humans, Family, Genetic Predisposition to Disease, Copy-number variation, Temporal lobe epilepsy, Gene, Genetics, Mutation, ADPEAF, Membrane Proteins, medicine.disease, Reelin Protein, 030104 developmental biology, ADLTE, Epilepsy, Temporal Lobe, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cff985c0e24a93c2a7f1191b44d609d0Test
https://pubmed.ncbi.nlm.nih.gov/29179159Test -
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المؤلفون: Marilena Vecchi, Alessandra Murgia, Roberta Polli, Elisa Bettella, Clementina Boniver, Stefano Sartori, Luca De Palma, Emanuela Leonardi
المصدر: Annals of Human Genetics. 78:389-398
مصطلحات موضوعية: Genetics, Mutation, In silico, Mutant, Biology, medicine.disease_cause, Phenotype, Transmembrane protein, medicine, Homology modeling, Peptide sequence, Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::63194df590f4845cfc6836c414ec04a9Test
https://doi.org/10.1111/ahg.12082Test -
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المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-14 (2017)
Scientific Reportsمصطلحات موضوعية: 0301 basic medicine, Protein family, Science, Protein function predictions, Biology, Second Messenger Systems, Synaptic Transmission, Article, 03 medical and health sciences, Excitatory synapse, Humans, Protein Interaction Maps, Medical genetics, Protein function predictions, Protein sequence analyses, Protein structure predictions, Sequence annotation, Neurons, Hippo signaling pathway, Multidisciplinary, Medical genetics, Neuron projection, Membrane Proteins, Proteins, Protein sequence analyses, Cilium assembly, Ankyrin Repeat, Cell biology, Tetratricopeptide, 030104 developmental biology, Sequence annotation, Synapses, Protein structure predictions, Medicine, Ankyrin repeat, Signal transduction, Protein Binding
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a535a9c9a63bf93def87fff4074aac1Test
https://doi.org/10.1038/s41598-017-05748-5Test -
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المؤلفون: Irene Toldo, Alessandra Murgia, Luisa Pellizzari, Giacomo Talenti, Stefano Sartori, Claudia Maria Bonardi
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), General Medicine, Biology, medicine.disease, Phenotype, Pyridoxine-dependent epilepsy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1219367f5aa45df6774b205ade7f639Test
http://hdl.handle.net/11577/3378091Test -
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المؤلفون: G. Di Rosa, Elisa Bettella, Emanuela Leonardi, Roberta Polli, Gaetano Tortorella, Stefano Sartori, Alessandra Murgia
المصدر: Clinical Genetics. 84:82-85
مصطلحات موضوعية: Genetics, education.field_of_study, Mutation, Population, Physiology, Biology, medicine.disease_cause, medicine.disease, Asymptomatic, X-inactivation, Pathogenesis, Epilepsy, Genotype, medicine, Etiology, medicine.symptom, education, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d961fd67c84ce88beb59070929f23bbfTest
https://doi.org/10.1111/cge.12034Test -
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المصدر: Annals of Human Genetics. 75:483-496
مصطلحات موضوعية: Genetics, medicine.medical_specialty, Cell growth, In silico, Disease, Biology, urologic and male genital diseases, Phenotype, female genital diseases and pregnancy complications, Gene product, Molecular genetics, medicine, Missense mutation, Protein folding, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::20589cafec692e17eb7678fea10a9f12Test
https://doi.org/10.1111/j.1469-1809.2011.00647.xTest