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1دورية أكاديمية
المؤلفون: Francesca Cogliati, Francesca Forzano, Silvia Russo
المصدر: Frontiers in Neurology, Vol 12 (2021)
مصطلحات موضوعية: overlapping phenotypes, pleiotropy of a single gene, microcephaly, SETBP1 gene, SETD5 gene, MRD23 syndrome, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Pamela Magini, Clara Marco‐Marin, Juan M. Escamilla‐Honrubia, Diego Martinelli, Carlo Dionisi-Vici, Francesca Faravelli, Francesca Forzano, Marco Seri, Vicente Rubio, Emanuele Panza
المصدر: Annals of Clinical and Translational Neurology, Vol 6, Iss 8, Pp 1533-1540 (2019)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2328-9503
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3دورية أكاديمية
المؤلفون: Ilaria Catusi, Maria Garzo, Anna Paola Capra, Silvana Briuglia, Chiara Baldo, Maria Paola Canevini, Rachele Cantone, Flaviana Elia, Francesca Forzano, Ornella Galesi, Enrico Grosso, Michela Malacarne, Angela Peron, Corrado Romano, Monica Saccani, Lidia Larizza, Maria Paola Recalcati
المصدر: Genes, Vol 12, Iss 5, p 652 (2021)
مصطلحات موضوعية: 8p23.2-pter microdeletion, 8p23.3, chromosomal microarray analysis (CMA), critical microdeletion region (CR), candidate region, small deletions, Genetics, QH426-470
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Esperanza Fernández, Elena Gennaro, Filomena Pirozzi, Chiara Baldo, Francesca Forzano, Licia Turolla, Francesca Faravelli, Denise Gastaldo, Domenico Coviello, Marina Grasso, Claudia Bagni
المصدر: Frontiers in Genetics, Vol 9 (2018)
مصطلحات موضوعية: FMRP, FMR1 mRNA, CGG expansion, fragile X syndrome, mosaicism, Genetics, QH426-470
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Valentina Guida, Luciano Calzari, Maria Teresa Fadda, Francesca Piceci-Sparascio, Maria Cristina Digilio, Laura Bernardini, Francesco Brancati, Teresa Mattina, Daniela Melis, Francesca Forzano, Silvana Briuglia, Tommaso Mazza, Sebastiano Bianca, Enza Maria Valente, Leila Bagherjad Salehi, Paolo Prontera, Mario Pagnoni, Romano Tenconi, Bruno Dallapiccola, Giorgio Iannetti, Luigi Corsaro, Alessandro De Luca, Davide Gentilini
المصدر: International Journal of Molecular Sciences, Vol 22, Iss 3, p 1190 (2021)
مصطلحات موضوعية: oculo-auriculo-vertebral spectrum, OAVS, DNA-methylation, genome-wide, infinium human methylation 450K beadchip, retinoic acid, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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6مورد إلكتروني
المؤلفون: Francesca Forzano, 1, Olga Antonova, 2, Angus Clarke, 3, Guido de Wert, 4, Sabine Hentze, 5, Yalda Jamshidi, 6, Yves Moreau, 7, Markus Perola, 8, Inga Prokopenko, 9 10 11, Andrew Read, 12, Alexandre Reymond, 13, Vigdis Stefansdottir, 14, Carla van El, 15, Genuardi, M., 16, 17, Executive Committee of the European Society of Human, Genetic, Public and Professional Policy Committee of the European Society of Human, Genetics, Francesca Forzano 1, Olga Antonova 2, Angus Clarke 3, Guido de Wert 4, Sabine Hentze 5, Yalda Jamshidi 6, Yves Moreau 7, Markus Perola 8, Inga Prokopenko 9 10 11, Andrew Read 12, Alexandre Reymond 13, Vigdis Stefansdottir 14, Carla van El 15, Genuardi M. (ORCID:0000-0002-7410-8351), 16 17, Executive Committee of the European Society of Human Genetics, Public and Professional Policy Committee of the European Society of Human Genetics
مصطلحات الفهرس: genetic testing, Settore MED/03 - GENETICA MEDICA, info:eu-repo/semantics/article
URL:
https://hdl.handle.net/10807/219715
volume:2022
issue:5
firstpage:493
lastpage:495
numberofpages:3
issueyear:2022
journal:EUROPEAN JOURNAL OF HUMAN GENETICS -
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المؤلفون: Frédéric Ebstein, Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie-Pier Scott-Boyer, Geeske M. van Woerden, Thomas Besnard, Jonas Johannes Papendorf, Maja Studencka-Turski, Tianyun Wang, Tzung-Chien Hsieh, Richard Golnik, Dustin Baldridge, Cara Forster, Charlotte de Konink, Selina M.W. Teurlings, Virginie Vignard, Richard H. van Jaarsveld, Lesley Ades, Benjamin Cogné, Cyril Mignot, Wallid Deb, Marjolijn C.J. Jongmans, F. Sessions Cole, Marie-José H. van den Boogaard, Jennifer A. Wambach, Daniel J. Wegner, Sandra Yang, Vickie Hannig, Jennifer Ann Brault, Neda Zadeh, Bruce Bennetts, Boris Keren, Anne-Claire Gélineau, Zöe Powis, Meghan Towne, Kristine Bachman, Andrea Seeley, Anita E. Beck, Jennifer Morrison, Rachel Westman, Kelly Averill, Theresa Brunet, Judith Haasters, Melissa T. Carter, Matthew Osmond, Patricia G. Wheeler, Francesca Forzano, Shehla Mohammed, Yannis Trakadis, Andrea Accogli, Rachel Harrison, Yiran Guo, Hakon Hakonarson, Sophie Rondeau, Geneviève Baujat, Giulia Barcia, René Günther Feichtinger, Johannes Adalbert Mayr, Martin Preisel, Frédéric Laumonnier, Tilmann Kallinich, Alexej Knaus, Bertrand Isidor, Peter Krawitz, Uwe Völker, Elke Hammer, Arnaud Droit, Evan E. Eichler, Ype Elgersma, Peter W. Hildebrand, François Bolduc, Elke Krüger, Stéphane Bézieau
المساهمون: Clinical Genetics, Neurosciences
المصدر: Science Translational Medicine, 15(698):eabo3189. American Association for the Advancement of Science
مصطلحات موضوعية: General Medicine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f08541291a7d8417d62644c4db9e51a
https://doi.org/10.1126/scitranslmed.abo3189 -
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المؤلفون: Alistair T. Pagnamenta, Jing Yu, Tracey A. Willis, Mona Hashim, Eleanor G. Seaby, Susan Walker, Jiaqi Xian, Emily W. Y. Cheng, Ana Lisa Taylor Tavares, Francesca Forzano, Helen Cox, Tabib Dabir, Angela F. Brady, Neeti Ghali, Santosh S. Atanur, Sarah Ennis, Diana Baralle, Jenny C. Taylor
المصدر: Human Mutation.
مصطلحات موضوعية: Article Subject, Genetics, Genetics (clinical)
وصف الملف: text/xhtml
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50c7c294cd6eff81fa8e159a6199e577
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المؤلفون: Francesca, Forzano, Olga, Antonova, Angus, Clarke, Guido, de Wert, Sabine, Hentze, Yalda, Jamshidi, Yves, Moreau, Markus, Perola, Inga, Prokopenko, Andrew, Read, Alexandre, Reymond, Vigdis, Stefansdottir, Carla, van El, Maurizio, Genuardi, Fiona, Ulph
المصدر: European journal of human genetics : EJHG.
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المؤلفون: Maria Teresa Fadda, Sebastiano Bianca, Dario Cocciadiferro, Bruno Dallapiccola, Marina Goldoni, Maria Grazia Giuffrida, Bruno Marino, Silvana Briuglia, Marco Tartaglia, Leila B. Salehi, Valentina Guida, Francesca Forzano, Orazio Palumbo, Francesco Benedicenti, Francesco Pancheri, Franco Stanzial, Laura Bernardini, Daniela Melis, Marco Castori, Giorgio Iannetti, Teresa Mattina, Marianna Puzzo, Hossein Hozhabri, Chiara Barone, Massimo Carella, Carolina Putotto, Alessandro De Luca, Francesca Piceci Sparascio, Maria Cristina Digilio, Francesco Brancati, Mario Pagnoni, Ariana Kariminejad
المصدر: Clinical Genetics. 100:268-279
مصطلحات موضوعية: Heart Defects, Congenital, Adult, Male, 0301 basic medicine, Adolescent, DNA Copy Number Variations, 030105 genetics & heredity, Biology, Polymorphism, Single Nucleotide, Gene dosage, Cohort Studies, Congenital, Young Adult, 03 medical and health sciences, Goldenhar Syndrome, Gene duplication, Genetics, medicine, Humans, Copy-number variation, Polymorphism, Craniofacial, Child, Preschool, copy-number-variants, DACH1, DACH2, congenital heart disease, Goldenhar syndrome, oculo-auriculo-vertebral spectrum, PAX-SIX-EYA-DACH network, Gene, Genetics (clinical), Heart Defects, Genetic heterogeneity, Microarray analysis techniques, Infant, Newborn, Infant, Single Nucleotide, DACH1, Newborn, Microarray Analysis, medicine.disease, DACH2, congenital heart disease, Developmental disorder, Child, Preschool, Female, 030104 developmental biology
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