المؤلفون: Pascolini, Giulia, Di Zenzo, Giovanni, Panebianco, Annarita, Didona, Biagio, Gozes, Illana

المصدر: American Journal of Medical Genetics Part A ; volume 194, issue 5 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.63539Test

المؤلفون: Breen, Michael S, Garg, Paras, Tang, Lara, Mendonca, Danielle, Levy, Tess, Barbosa, Mafalda, Arnett, Anne B, Kurtz-Nelson, Evangeline, Agolini, Emanuele, Battaglia, Agatino, Chiocchetti, Andreas G, Freitag, Christine M, Garcia-Alcon, Alicia, Grammatico, Paola, Hertz-Picciotto, Irva, Ludena-Rodriguez, Yunin, Moreno, Carmen, Novelli, Antonio, Parellada, Mara, Pascolini, Giulia, Tassone, Flora, Grice, Dorothy E, Di Marino, Daniele, Bernier, Raphael A, Kolevzon, Alexander, Sharp, Andrew J, Buxbaum, Joseph D, Siper, Paige M, De Rubeis, Silvia

المصدر: American Journal of Human Genetics. 107(3)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Human Genome, Brain Disorders, Basic Behavioral and Social Science, Intellectual and Developmental Disabilities (IDD), Mental Health, Behavioral and Social Science, Autism, Neurosciences, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Neurological, Autism Spectrum Disorder, Child, DNA Methylation, Developmental Disabilities, Epigenesis, Genetic, Female, Homeodomain Proteins, Humans, Intellectual Disability, Male, Mutation, Nerve Tissue Proteins, Neurodevelopmental Disorders, Phenotype, Transcriptome, ADNP, DNA methylation, Helsmoortel-Van der Aa syndrome, autism spectrum disorder, biomarkers, epigenetic signature, episignature, genotype-phenotype correlations, intellectual disability, neurodevelopmental disorders, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6397x8vmTest

المؤلفون: Baban, Anwar, Cicenia, Marianna, Magliozzi, Monia, Parlapiano, Giovanni, Cirillo, Marco, Pascolini, Giulia, Fattori, Fabiana, Gnazzo, Maria, Bruno, Pasqualina, De Luca, Lorenzo, Di Chiara, Luca, Francalanci, Paola, Udd, Bjarne, Secinaro, Aurelio, Amodeo, Antonio, Bertini, Enrico Silvio, Savarese, Marco, Drago, Fabrizio, Novelli, Antonio

المساهمون: Clinicum, Department of Medical and Clinical Genetics, Medicum, Faculty Common Matters (Faculty of Medicine)

مصطلحات موضوعية: Children, Dilated cardiomyopathy, Heart failure, Neuromuscular disease, titin (TTN), Titinopathy, Truncating variant, General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

العلاقة: Baban , A , Cicenia , M , Magliozzi , M , Parlapiano , G , Cirillo , M , Pascolini , G , Fattori , F , Gnazzo , M , Bruno , P , De Luca , L , Di Chiara , L , Francalanci , P , Udd , B , Secinaro , A , Amodeo , A , Bertini , E S , Savarese , M , Drago , F & Novelli , A 2023 , ' Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics : a report on five patients ' , Frontiers in cardiovascular medicine , vol. 10 , 1210378 . https://doi.org/10.3389/fcvm.2023.1210378Test; ORCID: /0000-0002-2591-244X/work/142010385; http://hdl.handle.net/10138/564875Test; dd402846-fc0d-4321-a484-bc259ba70858; 001045155100001

الإتاحة: http://hdl.handle.net/10138/564875Test

المؤلفون: Gnazzo, Maria¹ (AUTHOR), Pascolini, Giulia² (AUTHOR), Parlapiano, Giovanni² (AUTHOR), Petrizzelli, Francesco³ (AUTHOR), Perrino, Daniele¹ (AUTHOR), Porco, Luigina⁴ (AUTHOR), Bartuli, Andrea² (AUTHOR), Novelli, Antonio¹ (AUTHOR), Baban, Anwar^2,5 (AUTHOR) anwar.baban@opbg.net

المصدر: Clinical Genetics. Jul2024, Vol. 106 Issue 1, p109-113. 5p.

مصطلحات موضوعية: *NUCLEOTIDE sequencing, *ARRHYTHMIA, *HEARING disorders, *PHENOTYPES, *DEVELOPMENTAL delay, *SYNDROMES

المؤلفون: Pascolini, Giulia, Calvani, Mauro, Grammatico, Paola

المصدر: Italian Journal of Pediatrics ; volume 48, issue 1 ; ISSN 1824-7288

الإتاحة: https://doi.org/10.1186/s13052-022-01283-wTest

المؤلفون: Harris, Holly K, Nakayama, Tojo, Lai, Jenny, Zhao, Boxun, Argyrou, Nikoleta, Gubbels, Cynthia S, Soucy, Aubrie, Genetti, Casie A, Suslovitch, Victoria, Rodan, Lance H, Tiller, George E, Lesca, Gaetan, Gripp, Karen W, Asadollahi, Reza, Hamosh, Ada, Applegate, Carolyn D, Turnpenny, Peter D, Simon, Marleen E H, Volker-Touw, Catharina M L, Gassen, Koen L I van, Binsbergen, Ellen van, Pfundt, Rolph, Gardeitchik, Thatjana, Vries, Bert B A de, Immken, LaDonna L, Buchanan, Catherine, Willing, Marcia, Toler, Tomi L, Fassi, Emily, Baker, Laura, Vansenne, Fleur, Wang, Xiadong, Ambrus, Julian L, Fannemel, Madeleine, Posey, Jennifer E, Agolini, Emanuele, Novelli, Antonio, Rauch, Anita, Boonsawat, Paranchai, Fagerberg, Christina R, Larsen, Martin J, Kibaek, Maria, Labalme, Audrey, Poisson, Alice, Payne, Katelyn K, Walsh, Laurence E, Aldinger, Kimberly A, Balciuniene, Jorune, Skraban, Cara, Gray, Christopher, Murrell, Jill, Bupp, Caleb P, Pascolini, Giulia, Grammatico, Paola, Broly, Martin, Küry, Sébastien, Nizon, Mathilde, Rasool, Iqra Ghulam, Zahoor, Muhammad Yasir, Kraus, Cornelia, Reis, André, Iqbal, Muhammad, Uguen, Kevin, Audebert-Bellanger, Severine, Ferec, Claude, Redon, Sylvia, Baker, Janice, Wu, Yunhong, Zampino, Guiseppe, Syrbe, Steffan, Brosse, Ines, Jamra, Rami Abou, Dobyns, William B, Cohen, Lilian L, Blomhoff, Anne, Mignot, Cyril, Keren, Boris, Courtin, Thomas, Agrawal, Pankaj B, Beggs, Alan H, Yu, Timothy W

المصدر: Harris , H K , Nakayama , T , Lai , J , Zhao , B , Argyrou , N , Gubbels , C S , Soucy , A , Genetti , C A , Suslovitch , V , Rodan , L H , Tiller , G E , Lesca , G , Gripp , K W , Asadollahi , R , Hamosh , A , Applegate , C D , Turnpenny , P D , Simon , M E H , Volker-Touw , C M L , Gassen , K L I V , Binsbergen , E V ....

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/d55e32ba-6c09-4131-a27a-44da2dd4b882Test

الإتاحة: https://doi.org/10.1038/s41436-021-01114-zTest
https://portal.findresearcher.sdu.dk/da/publications/d55e32ba-6c09-4131-a27a-44da2dd4b882Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9472083/pdf/nihms-1690974.pdfTest

المؤلفون: Pascolini, Giulia

المصدر: Journal of Translational Genetics and Genomics

الإتاحة: https://doi.org/10.20517/jtgg.2020.05Test

المؤلفون: Pascolini, Giulia, Di Zenzo, Giovanni, Morani, Paolo, Didona, Biagio, Panebianco, Annarita

المصدر: The Journal of Dermatology ; volume 51, issue 5 ; ISSN 0385-2407 1346-8138

الإتاحة: https://doi.org/10.1111/1346-8138.17053Test

المؤلفون: Pascolini, Giulia, Gaudioso, Federica, Baldi, Marina, Alario, Dario, Dituri, Francesco, Novelli, Antonio, Baban, Anwar

المصدر: Journal of Human Genetics ; volume 68, issue 6, page 437-443 ; ISSN 1434-5161 1435-232X

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/s10038-023-01134-4Test
https://www.nature.com/articles/s10038-023-01134-4.pdfTest
https://www.nature.com/articles/s10038-023-01134-4Test

المؤلفون: Pascolini, Giulia, Di Zenzo, Giovanni, Morani, Paolo, Didona, Biagio, Panebianco, Annarita

المصدر: Journal of Dermatology; May2024, Vol. 51 Issue 5, pe162-e163, 2p