المؤلفون: Francesco Petrizzelli, Tommaso Biagini, Alessandro Barbieri, Luca Parca, Noemi Panzironi, Stefano Castellana, Viviana Caputo, Angelo Luigi Vescovi, Massimo Carella, Tommaso Mazza

المصدر: Computational and Structural Biotechnology Journal, Vol 18, Iss , Pp 2033-2042 (2020)

مصطلحات موضوعية: Histone demethylation, Kabuki Syndrome, KDM6A, Molecular dynamics simulation, Computational biology, Biotechnology, TP248.13-248.65

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2001037020303457Test; https://doaj.org/toc/2001-0370Test

الوصول الحر: https://doaj.org/article/5f371d571e554adabd228f2298c8b58aTest

المؤلفون: Alice Traversa, Enrica Marchionni, Agnese Giovannetti, Maria L. Genovesi, Noemi Panzironi, Katia Margiotti, Giulia Napoli, Francesca Piceci Sparascio, Alessandro De Luca, Francesco Petrizzelli, Massimo Carella, Francesco Cardona, Silvia Bernardo, Lucia Manganaro, Tommaso Mazza, Antonio Pizzuti, Viviana Caputo

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)

مصطلحات موضوعية: 17q12 duplication syndrome, array‐CGH, ARX, clinical exome sequencing, corpus callosum, dual diagnosis, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/dc2be2928238438d93f55dee99ed9483Test

المؤلفون: Mattia Colucci, Domenico Frezza, Giovanni Gambassi, Francesco De Vito, Angela Iaquinta, Maria Grazia Massaro, Simona Di Giambenedetto, BORGHETTI A, Francesca Lombardi, Noemi Panzironi, Valentino Ruggieri, Vincenzo Giambra, Rossella Cianci

المساهمون: Mattia, Colucci, Domenico, Frezza, Giovanni, Gambassi, Francesco De, Vito, Angela, Iaquinta, Maria Grazia, Massaro, Simona Di, Giambenedetto, Borghetti, A, Francesca, Lombardi, Noemi, Panzironi, Valentino, Ruggieri, Vincenzo, Giambra, Rossella, Cianci

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000838052700005; journal:GENE; https://hdl.handle.net/11568/1214291Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85133348238

الإتاحة: https://hdl.handle.net/11568/1214291Test

المؤلفون: Agnese Giovannetti, Salvatore Daniele Bianco, Alice Traversa, Noemi Panzironi, Alessandro Bruselles, Sara Lazzari, Niccolò Liorni, Marco Tartaglia, Massimo Carella, Antonio Pizzuti, Tommaso Mazza, Viviana Caputo

المصدر: Human mutation. 43(9)

مصطلحات موضوعية: microRNA, Base Sequence, Genome, Human, Nucleotides, single nucleotide variants, Computational Biology, Molecular Sequence Annotation, functional annotation, Polymorphism, Single Nucleotide, noncoding element, MicroRNAs, machine learning, Genetics, Humans, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbcd742e3dd437c1e0931dd7cf41b08cTest
https://pubmed.ncbi.nlm.nih.gov/35583122Test

المؤلفون: Giulia Napoli, Noemi Panzironi, Alice Traversa, Caterina Catalanotto, Valentina Pace, Francesco Petrizzelli, Agnese Giovannetti, Sara Lazzari, Carlo Cogoni, Marco Tartaglia, Massimo Carella, Tommaso Mazza, Antonio Pizzuti, Chiara Parisi, Viviana Caputo

المساهمون: Napoli, Giulia, Panzironi, Noemi, Traversa, Alice, Catalanotto, Caterina, Pace, Valentina, Petrizzelli, Francesco, Giovannetti, Agnese, Lazzari, Sara, Cogoni, Carlo, Tartaglia, Marco, Carella, Massimo, Mazza, Tommaso, Pizzuti, Antonio, Parisi, Chiara, Caputo, Viviana

مصطلحات موضوعية: Epilepsy, KCNH1, Neurodevelopmental disorder, Potassium channel, Primary cilium, SHH pathway

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35639255; info:eu-repo/semantics/altIdentifier/wos/WOS:000803858300001; journal:MOLECULAR NEUROBIOLOGY; http://hdl.handle.net/11573/1648078Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85131184441

الإتاحة: https://doi.org/10.1007/s12035-022-02886-4Test
http://hdl.handle.net/11573/1648078Test

المؤلفون: Daniele Guadagnolo, Francesco Petrizzelli, Silvia Bernardo, Agnese Giovannetti, Maria Luce Genovesi, Antonio Pizzuti, Massimo Carella, Noemi Panzironi, Tommaso Mazza, Enrica Marchionni, Viviana Caputo, Pietro Palumbo, Alice Traversa

مصطلحات موضوعية: 0301 basic medicine, Proband, Histology, Physiology, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Genotype-phenotype correlations, Biology, medicine.disease_cause, Whole Exome Sequencing, Frameshift mutation, Loss of heterozygosity, 03 medical and health sciences, 0302 clinical medicine, medicine, Bone disorders, Bone Morphogenetic Proteins (BMP) pathway, Brachydactyly, Chondrodysplasia, GDF5, Exome sequencing, Genetics, Mutation, medicine.disease, Phenotype, 030104 developmental biology, Limb morphogenesis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a5b487edddf91c27ff02f57c685b3f9Test
http://hdl.handle.net/11573/1493515Test

المؤلفون: Francesco Petrizzelli, Tommaso Mazza, Luca Parca, Stefano Castellana, Angelo Luigi Vescovi, Massimo Carella, Viviana Caputo, Tommaso Biagini, Noemi Panzironi

المساهمون: Castellana, S, Biagini, T, Petrizzelli, F, Parca, L, Panzironi, N, Caputo, V, Vescovi, A, Carella, M, Mazza, T

المصدر: Nucleic Acids Research

مصطلحات موضوعية: Models, Molecular, Primates, Mitochondrial Diseases, AcademicSubjects/SCI00010, Respiratory chain, Rodentia, Computational biology, Mitochondrion, Biology, medicine.disease_cause, Human mitochondrial genetics, Genome, Oxidative Phosphorylation, Protein Structure, Secondary, Mitochondrial Proteins, 03 medical and health sciences, Residue (chemistry), 0302 clinical medicine, Protein structure, amino acid substitution, animals, cetacea, electron transport, electron transport chain complex proteins, gene ontology, Interaction network, Genetics, medicine, Database Issue, Humans, Protein Interaction Domains and Motifs, 030304 developmental biology, Internet, 0303 health sciences, Mutation, Molecular Sequence Annotation, Mitochondria, Protein Subunits, Software, 030217 neurology & neurosurgery, OXPHOS complexes, nuclear and mitochondrial genomes, MitImpact

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e4dc73ef4f98439be16944f09dde576Test
http://hdl.handle.net/10281/298763Test

المؤلفون: Agnese Giovannetti, Francesco Cardona, Maria Luce Genovesi, Enrica Marchionni, Viviana Caputo, Alice Traversa, Giulia Napoli, Lucia Manganaro, Katia Margiotti, Alessandro De Luca, Silvia Bernardo, Francesca Piceci Sparascio, Massimo Carella, Francesco Petrizzelli, Antonio Pizzuti, Tommaso Mazza, Noemi Panzironi

المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)

مصطلحات موضوعية: 0301 basic medicine, Proband, Heterozygote, lcsh:QH426-470, media_common.quotation_subject, Nonsense, Chromosome Disorders, 030105 genetics & heredity, Biology, medicine.disease_cause, Clinical Reports, corpus callosum, 03 medical and health sciences, Loss of Function Mutation, Chromosome Duplication, Genetics, medicine, Humans, Genetic Testing, Molecular Biology, Genetics (clinical), Exome sequencing, Loss function, media_common, Homeodomain Proteins, Fetus, Mutation, Clinical Report, Corpus Callosum Agenesis, Mosaicism, Infant, clinical exome sequencing, Phenotype, Pedigree, lcsh:Genetics, 030104 developmental biology, ARX, 17q12 duplication syndrome, array-CGH, dual diagnosis, Codon, Nonsense, array‐CGH, Female, Agenesis of Corpus Callosum, Chromosomes, Human, Pair 17, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd80dd13e5b9d573d5cf7f5016730752Test
http://europepmc.org/articles/PMC7434725Test

المؤلفون: Angelo L. Vescovi, Tommaso Mazza, Noemi Panzironi, Massimo Carella, Luca Parca, Francesco Petrizzelli, Viviana Caputo, Stefano Castellana, Alessandro Barbieri, Tommaso Biagini

المساهمون: Petrizzelli, F, Biagini, T, Barbieri, A, Parca, L, Panzironi, N, Castellana, S, Caputo, V, Vescovi, A, Carella, M, Mazza, T

المصدر: Computational and Structural Biotechnology Journal
Computational and Structural Biotechnology Journal, Vol 18, Iss, Pp 2033-2042 (2020)

مصطلحات موضوعية: lcsh:Biotechnology, Nonsense mutation, Biophysics, Biology, Biochemistry, Computational biology, 03 medical and health sciences, Histone H3, 0302 clinical medicine, Histone demethylation, Structural Biology, lcsh:TP248.13-248.65, Histone methylation, Molecular dynamics simulation, Genetics, medicine, Missense mutation, KDM6A, Gene, Loss function, 030304 developmental biology, ComputingMethodologies_COMPUTERGRAPHICS, Kabuki Syndrome, 0303 health sciences, medicine.disease, Computer Science Applications, computational biology, histone demethylation, Kabuki syndrome, molecular dynamics simulation, 030220 oncology & carcinogenesis, Biotechnology, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2b950010f5c6fd63d6e7144c1d95954Test
http://hdl.handle.net/10281/298772Test