المؤلفون: Ludovico Graziani, Chiara Minotti, Miriam Lucia Carriero, Mario Bengala, Silvia Lai, Alessandra Terracciano, Antonio Novelli, Giuseppe Novelli

المصدر: Genes, Vol 15, Iss 5, p 597 (2024)

مصطلحات موضوعية: polycystic kidney disease, Alport Syndrome, COL4A5, phenotypic variability, sensorineural hearing loss, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/15/5/597Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/74a4474e2f7f4d138d8608eac2b845ffTest

المؤلفون: Maria Albanese, Francesca Pescini, Chiara Di Bonaventura, Luigi Francesco Iannone, Silvia Bianchi, Anna Poggesi, Mario Bengala, Nicola Biagio Mercuri, Francesco De Cesaris

المصدر: Journal of Clinical Medicine, Vol 13, Iss 7, p 1870 (2024)

مصطلحات موضوعية: erenumab, CADASIL, migraine, NOTCH3, CGRP, Medicine

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2077-0383/13/7/1870Test; https://doaj.org/toc/2077-0383Test

الوصول الحر: https://doaj.org/article/65aa898c60204ec6b8b9e8809f15f1c4Test

المؤلفون: Gabriele Bonetti, William Cozza, Andrea Bernini, Jurgen Kaftalli, Chiara Mareso, Francesca Cristofoli, Maria Chiara Medori, Leonardo Colombo, Salvatore Martella, Giovanni Staurenghi, Anna Paola Salvetti, Benedetto Falsini, Giorgio Placidi, Marcella Attanasio, Grazia Pertile, Mario Bengala, Francesca Bosello, Antonio Petracca, Fabiana D’Esposito, Benedetta Toschi, Paolo Lanzetta, Federico Ricci, Francesco Viola, Giuseppe Marceddu, Matteo Bertelli

المصدر: International Journal of Molecular Sciences, Vol 24, Iss 23, p 16881 (2023)

مصطلحات موضوعية: long-read sequencing, RPGR, PacBio, molecular dynamics, molecular docking, TTLL5, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/24/23/16881Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/8eac08075aa14a4b977811dbf2dd789fTest

المؤلفون: Ludovico Graziani, Stefania Zampatti, Miriam Lucia Carriero, Chiara Minotti, Cristina Peconi, Mario Bengala, Emiliano Giardina, Giuseppe Novelli

المصدر: Genes, Vol 14, Iss 8, p 1589 (2023)

مصطلحات موضوعية: ADPKD, PKD1/2, digenic disease, genotype–phenotype correlations, NGS, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/14/8/1589Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/7b6a6e9aff7d4a48807ae5a9cfb894aaTest

المؤلفون: Mayla Sgrulletti, Cristina Cifaldi, Silvia Di Cesare, Barbara Kroegler, Elisabetta Del Duca, Valentina Ferradini, Simona Graziani, Mario Bengala, Gigliola Di Matteo, Viviana Moschese

المصدر: Frontiers in Pediatrics, Vol 10 (2023)

مصطلحات موضوعية: inborn errors of immunity, primary immunodeficiency, secondary hypogammaglobulinemia, rheumatic disease, immune dysregulation, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2022.1055091/fullTest; https://doaj.org/toc/2296-2360Test

الوصول الحر: https://doaj.org/article/40ecff1dcbd4493b9da2b7d397ebddfbTest

المؤلفون: Annalisa Botta, Virginia Veronica Visconti, Luana Fontana, Paola Bisceglia, Mario Bengala, Roberto Massa, Ilaria Bagni, Rosanna Cardani, Federica Sangiuolo, Giovanni Meola, Giovanni Antonini, Antonio Petrucci, Elena Pegoraro, Maria Rosaria D’Apice, Giuseppe Novelli

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: myotonic dystrophy type 2, CNBP premutations, alleles distribution, DM2 genetic testing, penetrance, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.668094/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/325488be5a6d4db4b095871af31ea877Test

المؤلفون: Valentina Lodato, Valeria Orlando, Viola Alesi, Silvia Di Tommaso, Mario Bengala, Giovanni Parlapiano, Elisa Agnolucci, Marianna Cicenia, Federica Calì, Maria Cristina Digilio, Fabrizio Drago, Antonio Novelli, Anwar Baban

المصدر: Journal of Cardiovascular Development and Disease, Vol 8, Iss 11, p 159 (2021)

مصطلحات موضوعية: 1p36 deletion syndrome, heart, aortic dilatation, SKI, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2308-3425/8/11/159Test; https://doaj.org/toc/2308-3425Test

الوصول الحر: https://doaj.org/article/e66cb9230e3c4788851e8444807e9dd6Test

المؤلفون: Ludovico Graziani, Giacomo Cinnirella, Valentina Ferradini, Chiara Conte, Federica Lo Bascio, Mario Bengala, Federica Sangiuolo, Giuseppe Novelli

المصدر: American Journal of Medical Genetics Part A. 191:1565-1569

مصطلحات موضوعية: ACTG1, Settore MED/03, Baraitser-Winter syndrome, Genetics, clinical exome sequencing, BRWS2, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::468538bc5c18beeca5eddc4d1d276495Test
https://doi.org/10.1002/ajmg.a.63157Test

المؤلفون: Elisa Cali, Mohnish Suri, Marcello Scala, Matteo P. Ferla, Shahryar Alavi, Eissa Ali Faqeih, Emilia K. Bijlsma, Kristen M. Wigby, Diana Baralle, Mohammad Y.V. Mehrjardi, Jennifer Schwab, Konrad Platzer, Katharina Steindl, Mais Hashem, Marilyn Jones, Dmitriy M. Niyazov, Jennifer Jacober, Rebecca Okashah Littlejohn, Denisa Weis, Neda Zadeh, Lance Rodan, Alice Goldenberg, François Lecoquierre, Marina Dutra-Clarke, Gabriella Horvath, Dana Young, Naama Orenstein, Shahad Bawazeer, Anneke T. Vulto-van Silfhout, Yvan Herenger, Mohammadreza Dehghani, Seyed Mohammad Seyedhassani, Amir Bahreini, Mahya E. Nasab, A. Gulhan Ercan-Sencicek, Zahra Firoozfar, Mojtaba Movahedinia, Stephanie Efthymiou, Pasquale Striano, Ehsan Ghayoor Karimiani, Vincenzo Salpietro, Jenny C. Taylor, Melody Redman, Alexander P.A. Stegmann, Andreas Laner, Ghada Abdel-Salam, Megan Li, Mario Bengala, Amelie Johanna Müller, Maria C. Digilio, Anita Rauch, Murat Gunel, Hannah Titheradge, Daniela N. Schweitzer, Alison Kraus, Irene Valenzuela, Scott D. McLean, Chanika Phornphutkul, Mustafa Salih, Amber Begtrup, Rhonda E. Schnur, Erin Torti, Tobias B. Haack, Carlos E. Prada, Fowzan S. Alkuraya, Henry Houlden, Reza Maroofian

المساهمون: MUMC+: DA KG Lab Specialisten (9), RS: FHML non-thematic output, Institut Català de la Salut, [Cali E] Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom. [Suri M] Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, United Kingdom. [Scala M] Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy. Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy. [Ferla MP] Genomic Medicine theme, Oxford Biomedical Research Centre, NIHR, Oxford, Oxfordshire, United Kingdom. Wellcome Centre for Human Genetics, Oxford University, Oxford, Oxfordshire, United Kingdom. [Alavi S] Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom. Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran. Palindrome, Isfahan, Iran. [Faqeih EA] Section of Medical Genetics, Children’s Specialist Hospital, King Fahad Medical, City, Riyadh, Saudi Arabia. [Valenzuela I] Àrea de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca de Medicina Genètica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Genetics in Medicine, 25(1), 135-142. Nature Publishing Group
Genetics in Medicine, 25, 1, pp. 135-142
Scientia
Genetics in Medicine, 25, 135-142

مصطلحات موضوعية: Neurobiologia del desenvolupament, Discapacitat intel·lectual - Aspectes genètics, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Otros calificadores::Otros calificadores::/genética [Otros calificadores], enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enanismo [ENFERMEDADES], trastornos mentales::trastornos del desarrollo neurológico [PSIQUIATRÍA Y PSICOLOGÍA], Nanisme, Nervous System Diseases::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability [DISEASES], All institutes and research themes of the Radboud University Medical Center, Other subheadings::Other subheadings::/genetics [Other subheadings], Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Dwarfism [DISEASES], enfermedades del sistema nervioso::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual [ENFERMEDADES], Genetics (clinical), Mental Disorders::Neurodevelopmental Disorders [PSYCHIATRY AND PSYCHOLOGY]

وصف الملف: application/pdf; image/jpeg; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet; text

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ceace68f22e9fddfec1c6fe140b0167Test
https://cris.maastrichtuniversity.nl/en/publications/81d27084-ec1f-4ef6-a38c-5c73866a5a8eTest

المؤلفون: Mayla Sgrulletti (11519104), Cristina Cifaldi (6334082), Silvia Di Cesare (367292), Barbara Kroegler (3686230), Elisabetta Del Duca (14350266), Valentina Ferradini (6579533), Simona Graziani (14350269), Mario Bengala (14350272), Gigliola Di Matteo (6334073), Viviana Moschese (6579557)

مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, inborn errors of immunity, primary immunodeficiency, secondary hypogammaglobulinemia, rheumatic disease, immune dysregulation

العلاقة: https://figshare.com/articles/dataset/Table1_Case_Report_Crossing_a_rugged_road_in_a_primary_immune_regulatory_disorder_xlsx/21840681Test

الإتاحة: https://doi.org/10.3389/fped.2022.1055091.s001Test