المؤلفون: Enrica Marchionni, Maria Rosaria D'Apice, Viviana Lupo, Giovanna Lattanzi, Elisabetta Mattioli, Gina Lisignoli, Elena Gabusi, Gerardo Pepe, Manuela Helmer Citterich, Elena Campione, Anna Maria Nardone, Paola Spitalieri, Noemi Pucci, Dario Cocciadiferro, Eliseo Picchi, Francesco Garaci, Antonio Novelli, Giuseppe Novelli

المصدر: Bone Reports, Vol 19, Iss , Pp 101728- (2023)

مصطلحات موضوعية: COL2A1, Type-II collagenopathies, Reverse-phenotyping, Exome sequencing, Functional characterization, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2352187223000748Test; https://doaj.org/toc/2352-1872Test

الوصول الحر: https://doaj.org/article/7aab59cb6a3344baa1cce4c1308ebddcTest

المؤلفون: Elisa Maria Turco, Angela Maria Giada Giovenale, Laura Sireno, Martina Mazzoni, Alessandra Cammareri, Caterina Marchioretti, Laura Goracci, Alessandra Di Veroli, Elena Marchesan, Daniel D’Andrea, Antonella Falconieri, Barbara Torres, Laura Bernardini, Maria Chiara Magnifico, Alessio Paone, Serena Rinaldo, Matteo Della Monica, Stefano D’Arrigo, Diana Postorivo, Anna Maria Nardone, Giuseppe Zampino, Roberta Onesimo, Chiara Leoni, Federico Caicci, Domenico Raimondo, Elena Binda, Laura Trobiani, Antonella De Jaco, Ada Maria Tata, Daniela Ferrari, Francesca Cutruzzolà, Gianluigi Mazzoccoli, Elena Ziviani, Maria Pennuto, Angelo Luigi Vescovi, Jessica Rosati

المصدر: Cell Death and Disease, Vol 13, Iss 11, Pp 1-16 (2022)

مصطلحات موضوعية: Cytology, QH573-671

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-4889Test

الوصول الحر: https://doaj.org/article/3481a3d58ebf491c977d49d933ec8e59Test

المؤلفون: Ilaria Catusi, Maria Paola Recalcati, Ilaria Bestetti, Maria Garzo, Chiara Valtorta, Melissa Alfonsi, Alberta Alghisi, Stefania Cappellani, Rosario Casalone, Rossella Caselli, Caterina Ceccarini, Carlo Ceglia, Anna Maria Ciaschini, Domenico Coviello, Francesca Crosti, Annamaria D'Aprile, Antonella Fabretto, Rita Genesio, Marzia Giagnacovo, Paola Granata, Ilaria Longo, Michela Malacarne, Giuseppina Marseglia, Annamaria Montaldi, Anna Maria Nardone, Chiara Palka, Vanna Pecile, Chiara Pessina, Diana Postorivo, Serena Redaelli, Alessandra Renieri, Chiara Rigon, Fabiola Tiberi, Mariella Tonelli, Nicoletta Villa, Anna Zilio, Daniela Zuccarello, Antonio Novelli, Lidia Larizza, Daniela Giardino

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)

مصطلحات موضوعية: Chromosomal microarray analysis (CMA), clinical marker identification, detection rate, pathogenic CNV, Genetics, QH426-470

وصف الملف: electronic resource

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

الوصول الحر: https://doaj.org/article/dcd2b41af7c54fef9ac5273be374d880Test

المؤلفون: Caterina Ceccarini, Valentina Imperatore, Stefania Troiani, Monia Magliozzi, Anna Maria Nardone, Amedea Mencarelli, Paolo Prontera, Antonio Novelli, Fortunato Lonardo, Daniela Rogaia, Maria Cristina Digilio, Maria Teresa Falco, Carla Cesarano, Marco Seri, Maria Giovanna Tedesco, Paolo Fontana, Chiara Leoni, Carmelo Piscopo

المصدر: American Journal of Medical Genetics Part A. 185:1204-1210

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Microcephaly, medicine.diagnostic_test, business.industry, 030105 genetics & heredity, medicine.disease, Short stature, GNAO1, 03 medical and health sciences, 030104 developmental biology, Intellectual disability, Mutation (genetic algorithm), Genetics, Feingold syndrome, Medicine, Syndactyly, medicine.symptom, business, Genetics (clinical), Genetic testing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::55c5aeabe085e4ff8dea9ed8eab51a2cTest
https://doi.org/10.1002/ajmg.a.62068Test

المؤلفون: Ester Sallicandro, Maria Teresa Liambo, Antonio Novelli, Maria Grazia Di Gregorio, Valeria Orlando, Michela Canestrelli, Marcello Niceta, Francesco Corrado, Gianluca Di Giacomo, Anna Maria Nardone, Bruno Dallapiccola, Silvia Di Tommaso, Viola Alesi, Giusy Calvieri, Giuseppe Barrano, Chiara Calacci

المصدر: Reproductive Sciences. 28:1142-1149

مصطلحات موضوعية: 0301 basic medicine, Amniotic fluid, DNA Copy Number Variations, Genetic counseling, Chromosome Disorders, Genetic Counseling, Context (language use), Prenatal diagnosis, Bioinformatics, Ultrasonography, Prenatal, Cytogenetics, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Prenatal Diagnosis, Humans, Medicine, Genetic Testing, Copy-number variation, Uncertain significance, 030219 obstetrics & reproductive medicine, business.industry, Ultrasound, Obstetrics and Gynecology, 030104 developmental biology, medicine.anatomical_structure, Karyotyping, Chorionic villi, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::264fa9d97d1ec16127214997e92a2cfdTest
https://doi.org/10.1007/s43032-020-00419-9Test

المؤلفون: Letizia Camerota, Antonio Suppa, Luís Pires, Susana Isabel Ferreira, Cinzia Galasso, Anna Maria Nardone, Isabel M. Carreira, Fernando De Maio, Francesco Brancati, Silvia Lanciotti, Lina Ramos, Joana B. Melo, Giacomo Cinnirella

المصدر: American Journal of Medical Genetics Part A. 182:2694-2698

مصطلحات موضوعية: 0301 basic medicine, 030105 genetics & heredity, Bioinformatics, Settore MED/05, Short stature, 03 medical and health sciences, Intellectual disability, Genetics, medicine, Precocious puberty, NPR2, Genetics (clinical), business.industry, Chromosome, 9p13 deletion syndrome, medicine.disease, tremor, Phenotype, myoclonus, 030104 developmental biology, Feature (computer vision), medicine.symptom, business, Myoclonus

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::840c5cdaab9e75e5a8a31159a01e62f6Test
https://doi.org/10.1002/ajmg.a.61807Test

المؤلفون: Naama Hirsch, Idit Dahan, Eva D'haene, Matan Avni, Sarah Vergult, Marta Vidal-García, Pamela Magini, Claudio Graziano, Giulia Severi, Elena Bonora, Anna Maria Nardone, Francesco Brancati, Alberto Fernández-Jaén, Olson J. Rory, Benedikt Hallgrímsson, Ramon Y. Birnbaum

المساهمون: Hirsch, Naama, Dahan, Idit, D'haene, Eva, Avni, Matan, Vergult, Sarah, Vidal-García, Marta, Magini, Pamela, Graziano, Claudio, Severi, Giulia, Bonora, Elena, Nardone, Anna Maria, Brancati, Francesco, Fernández-Jaén, Alberto, Rory, Olson J, Hallgrímsson, Benedikt, Birnbaum, Ramon Y

المصدر: GENOME RESEARCH

مصطلحات موضوعية: Craniosynostose, Animal, Twist-Related Protein 1, Repressor Protein, TRANSLOCATION, Mice, Polydactyly, Phenotype, Gene Expression Regulation, Histone Deacetylase, Medicine and Health Sciences, Genetics, Genetics (clinical), Human, Nuclear Protein, TISSUE-SPECIFIC ENHANCERS

وصف الملف: application/pdf; ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc3cb705b0bd5bf2ec9d1b137970f325Test
https://hdl.handle.net/11697/197389Test

المؤلفون: Francesca Romana Grati, Ilaria Bestetti, Daria De Siero, Francesca Malvestiti, Nicoletta Villa, Elena Sala, Francesca Crosti, Valentina Parisi, Anna Maria Nardone, Gianluca Di Giacomo, Antonella Pettinari, Giada Tortora, Annamaria Montaldi, Annapaola Calò, Donatella Saccilotto, Sara Zanchetti, Paola Celli, Silvana Guerneri, Rosamaria Silipigni, Laura Cardarelli, Elisabetta Lippi, Simona Cavani, Michela Malacarne, Rita Genesio, Nicola Beltrami, Maria Carla Pittalis, Laura Desiderio, Mattia Gentile, Romina Ficarella, Maria Paola Recalcati, Ilaria Catusi, Maria Garzo, Lorena Miele, Cecilia Corti, Sara Ghezzo, Veronica Bertini, Francesca Cambi, Angelo Valetto, Barbara Facchinetti, Laura Bernardini, Anna Capalbo, Federica Balducci, Elisabetta Pelo, Barbara Minuti, Chiara Pescucci, Costanza Giuliani, Alessandra Renieri, Ilaria Longo, Rossella Tita, Giuseppe Castello, Rosario Casalone, Rossana Righi, Barbara Raso, Alessandro Civolani, Maria Cristina Muzi, Manuela di Natale, Luigia Varriale, Daniela Gasperini, Maria Cristina Nuzzi, Angelo Cellamare, Paola Casieri, Rosa Busuito, Caterina Ceccarini, Carla Cesarano, Orsola Privitera, Daniela Melani, Cristina Menozzi, Cristina Falcinelli, Olga Calabrese, Paola Battaglia, Antonella Tanzariello, Tamara Stampalija, Carmela Ardisia, Paolo Gasparini, Peter Benn, Antonio Novelli

المساهمون: Grati, Francesca Romana, Bestetti, Ilaria, De Siero, Daria, Malvestiti, Francesca, Villa, Nicoletta, Sala, Elena, Crosti, Francesca, Parisi, Valentina, Nardone, Anna Maria, Di Giacomo, Gianluca, Pettinari, Antonella, Tortora, Giada, Montaldi, Annamaria, Calò, Annapaola, Saccilotto, Donatella, Zanchetti, Sara, Celli, Paola, Guerneri, Silvana, Silipigni, Rosamaria, Cardarelli, Laura, Lippi, Elisabetta, Cavani, Simona, Malacarne, Michela, Genesio, Rita, Beltrami, Nicola, Pittalis, Maria Carla, Desiderio, Laura, Gentile, Mattia, Ficarella, Romina, Recalcati, Maria Paola, Catusi, Ilaria, Garzo, Maria, Miele, Lorena, Corti, Cecilia, Ghezzo, Sara, Bertini, Veronica, Cambi, Francesca, Valetto, Angelo, Facchinetti, Barbara, Bernardini, Laura, Capalbo, Anna, Balducci, Federica, Pelo, Elisabetta, Minuti, Barbara, Pescucci, Chiara, Giuliani, Costanza, Renieri, Alessandra, Longo, Ilaria, Tita, Rossella, Castello, Giuseppe, Casalone, Rosario, Righi, Rossana, Raso, Barbara, Civolani, Alessandro, Muzi, Maria Cristina, di Natale, Manuela, Varriale, Luigia, Gasperini, Daniela, Nuzzi, Maria Cristina, Cellamare, Angelo, Casieri, Paola, Busuito, Rosa, Ceccarini, Caterina, Cesarano, Carla, Privitera, Orsola, Melani, Daniela, Menozzi, Cristina, Falcinelli, Cristina, Calabrese, Olga, Battaglia, Paola, Tanzariello, Antonella, Stampalija, Tamara, Ardisia, Carmela, Gasparini, Paolo, Benn, Peter, Novelli, Antonio

مصطلحات موضوعية: cfDNAtesting, Obstetrics and Gynecology, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deddef97ee50604835da23b5f9aa9edbTest
https://hdl.handle.net/11368/3035240Test

المؤلفون: Marta Vidal Garcia, Pamela Magini, Giulia Severi, Anna Maria Nardone, Claudio Graziano, Matan Avni, Naama Hirsch, Eva D'haene, Benedikt Hallgrímsson, Francesco Brancati, Alberto Fernández-Jaén, Idit Dahan, Sarah Vergult, Rory J. Olson, Elena Bonora, Ramon Y. Birnbaum

مصطلحات موضوعية: CTCF, Regulatory sequence, Transcriptional regulation, Locus (genetics), Promoter, Biology, Enhancer, Gene, Phenotype, Cell biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::43b5e5a217c30ad45f90298bf10009e3Test
https://doi.org/10.1101/2021.08.10.455254Test

المؤلفون: Diana Postorivo, Barbara Torres, Matteo Della Monica, Antonio Novelli, Anna Maria Nardone, Laura Bernardini, Francesca Clementina Radio, Bruno Dallapiccola, Cristina Gorgone, Gioacchino Scarano, Teresa Mattina, Claudia Cesario, Fabio Acquaviva, Monia Magliozzi, Viola Alesi, Fortunato Lonardo, Maria Cristina Digilio

المصدر: American Journal of Medical Genetics Part A. 176:2501-2508

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Microcephaly, Candidate gene, 030105 genetics & heredity, Bioinformatics, Pathogenesis, 03 medical and health sciences, Intellectual disability, Genetics, medicine, Humans, Craniofacial, Gene, Wolf–Hirschhorn syndrome, Genetics (clinical), Psychomotor learning, business.industry, Infant, Newborn, Infant, medicine.disease, Child, Preschool, Female, Chromosome Deletion, Chromosomes, Human, Pair 4, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccc38b4b0575bf6d38b6a87c9e93087bTest
https://doi.org/10.1002/ajmg.a.40512Test