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European Journal of Human Genetics, ISSN 1018-4813, 02/2016, Volume 24, Issue 2, pp. 183 - 190
Journal Article
Clinical Genetics, ISSN 0009-9163, 04/2019, Volume 95, Issue 4, pp. 525 - 531
Whole exome sequencing (WES) has led to the understanding of the molecular events affecting neurodevelopment in an extremely diverse clinical context,... 
cerebellar dysgenesis | developmental and epileptic encephalopathy | growth deficiency | PACS2 | facial dysmorphism | DE-NOVO MUTATIONS | GENETICS & HEREDITY | Medicine, Experimental | Medical research | Cerebellum | Phenotypes | Missense mutation | Mutation | Epilepsy | Central nervous system
Journal Article
by Casula, Manuela and Olmastroni, Elena and Pirillo, Angela and Catapano, Alberico Luigi and Arca, Marcello and Averna, Maurizio and Bertolini, Stefano and Calandra, Sebastiano and Tarugi, Patrizia and Pellegatta, Fabio and Angelico, Francesco and Bartuli, Andrea and Biasucci, Giacomo and Biolo, Gianni and Bonanni, Luca and Bonomo, Katia and Borghi, Claudio and Bossi, Antonio Carlo and Branchi, Adriana and Carubbi, Francesca and Cipollone, Francesco and Citroni, Nadia and Federici, Massimo and Ferri, Claudio and Fiorenza, Anna Maria and Giaccari, Andrea and Giorgino, Francesco and Guardamagna, Ornella and Iannuzzi, Arcangelo and Iughetti, Lorenzo and Lupattelli, Graziana and Lupi, Alessandro and Mandraffino, Giuseppe and Marcucci, Rossella and Maroni, Lorenzo and Miccoli, Roberto and Mombelli, Giuliana and Muntoni, Sandro and Pecchioli, Valerio and Pederiva, Cristina and Pipolo, Antonio and Pisciotta, Livia and Pujia, Arturo and Purrello, Francesco and Repetti, Elena and Rubba, Paolo and Sabbà, Carlo and Sampietro, Tiziana and Sarzani, Riccardo and Tagliabue, Milena Paola and Trenti, Chiara and Vigna, Giovanni Battista and Werba, Josè Pablo and Zambon, Sabina and Zenti, Maria Grazia and Minicocci, Ilenia and Noto, Davide and Fortunato, Giuliana and Banderali, Giuseppe and Benso, Andrea and Bigolin, Paola and Bonora, Enzo and Bruzzi, Patrizia and Bucci, Marco and Buonuomo, Paola Sabrina and Capra, Maria Elena and Cardolini, Iris and Cefalù, Baldassarre and Cervelli, Nazzareno and Chiariello, Giuseppe and Cocci, Guido and Colombo, Emanuela and Cremonini, Anna Laura and D'Addato, Sergio and D'Erasmo, Laura and Dal Pino, Beatrice and De Sanctis, Luisa and De Vita, Emanuele and Del Ben, Maria and Di Costanzo, Alessia and Di Taranto, Maria Donata and Fasano, Tommaso and Gentile, Luigi and Gentile, Marco and Ghirardello, Omar and Grigore, Liliana and Lussu, Milena and Meregalli, Giancarla and Moffa, Simona and Montalcini, Tiziana and Morgia, Valeria and Nascimbeni, Fabio and Pasta, Andrea and Pavanello, Chiara and Saitta, Antonino and Scicali, Roberto and Siepi, Donatella and Spagnolli, Walter and Spina, Rossella and Sticchi, Elena and ... and LIPIGEN Grp and Participant Laboratories and Participant Centers and STUDY CENTRAL LABORATORY AND ANALYSIS GROUP and MEMBERS OF THE LIPIGEN STEERING COMMETTEE and PRINCIPAL INVESTIGATORS: Coordinator center and COLLABORATORS
Atherosclerosis, ISSN 0021-9150, 10/2018, Volume 277, pp. 413 - 418
Familial hypercholesterolemia (FH) is an inherited disorder characterized by high levels of blood cholesterol from birth and premature coronary heart disease.... 
Dutch Lipid Clinic Network score | Familial hypercholesterolemia | Genetic testing | CARDIAC & CARDIOVASCULAR SYSTEMS | DISEASE | RISK | PERIPHERAL VASCULAR DISEASE | Hypercholesterolemia | Blood cholesterol | Low density lipoproteins | Analysis
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 815 - 823
Fibronectin is a master organizer of extracellular matrices (ECMs) and promotes the assembly of collagens, fibrillin-1, and other proteins. It is also known to... 
spondylometaphyseal | fibronectin | scoliosis | cartilage | FN1 | extracellular matrix | skeletal dysplasia | protein secretion | corner fractures | metaphyses | Report
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 05/2017, Volume 12, Issue 1, pp. 1 - 4
Abstract A new approach has been designed at the Bambino Gesù Children’s Hospital in Rome aimed at increasing empowerment in Williams Syndrome individuals... 
Work experience | Williams Syndrome | Inter-individual variability
Journal Article
International Journal of Endocrinology, ISSN 1687-8337, 01/2015, Volume 2015, pp. 912047 - 9
Journal Article
ORPHANET JOURNAL OF RARE DISEASES, ISSN 1750-1172, 05/2017, Volume 12, Issue 1, p. 107
A new approach has been designed at the Bambino Gesu Children's Hospital in Rome aimed at increasing empowerment in Williams Syndrome individuals through... 
MEDICINE, RESEARCH & EXPERIMENTAL | Work experience | Williams Syndrome | PEOPLE | Inter-individual variability | GENETICS & HEREDITY | Pilot Projects | Humans | Work | Adult | Female | Italy | Job Description | Genotype & phenotype | Congenital defects | Intellectual disabilities | Adults | Children | Patients | Mental retardation | Quality of life | Children & youth | Williams syndrome | Empowerment
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 08/2014, Volume 99, Issue 8, pp. 785 - 787
Journal Article