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Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype 1-gen-2022 Napolitano, F; Dell'Aquila, M; Terracciano, C; Franzese, G; Gentile, Mt; Piluso, G; Santoro, C; Colavito, D; Patane, A; De Blasiis, P; Sampaolo, S; Paladino, S; Melone, Mab
Hereditary Cancer Syndrome in a Family with Double Mutation in BRIP1 and MUTYH Genes 1-gen-2023 D'Elia, G.; Caliendo, G.; Passariello, L.; Albanese, L.; Makker, J.; Molinari, A. M.; Vietri, M. T.
Imaging the “hot phase” of a familiar left-dominant arrhythmogenic cardiomyopathy 1-gen-2021 Rubino, M.; Scatteia, A.; Frisso, G.; Pacileo, G.; Caiazza, M.; Pascale, C. E.; Guarini, P.; Limongelli, G.; Dellegrottaglie, S.
Increased Risk of Hereditary Prostate Cancer in Italian Families with Hereditary Breast and Ovarian Cancer Syndrome Harboring Mutations in BRCA and in Other Susceptibility Genes 1-gen-2022 D’Elia, Giovanna; Caliendo, Gemma; Tzioni, Maria-Myrsini; Albanese, Luisa; Passariello, Luana; Molinari, Anna Maria; Vietri, Maria Teresa
LINCking the Nuclear Envelope to Sperm Architecture 1-gen-2021 Manfrevola, F; Guillou, F; Fasano, Silvia; Pierantoni, R; Chianese, R
Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement 1-gen-2021 Onore, Maria Elena; Torella, Annalaura; Musacchia, Francesco; D'Ambrosio, Paola; Zanobio, Mariateresa; Del Vecchio Blanco, Francesca; Piluso, Giulio; Nigro, Vincenzo
LSS rs2254524 Increases the Risk of Hypertension in Children and Adolescents with Obesity 1-gen-2023 Umano, Giuseppina Rosaria; Cirillo, Grazia; Rondinelli, Giulia; Sanchez, Gianmaria; Marzuillo, Pierluigi; Guarino, Stefano; Di Sessa, Anna; Papparella, Alfonso; Miraglia Del Giudice, Emanuele
Machine learning and bioinformatics framework integration to potential familial dcm-related markers discovery 1-gen-2021 Schiano, C.; Franzese, M.; Geraci, F.; Zanfardino, M.; Maiello, C.; Palmieri, V.; Soricelli, A.; Grimaldi, V.; Coscioni, E.; Salvatore, M.; Napoli, C.
Male Reproduction: Regulation, Differentiation and Epigenetics 1-gen-2022 Venditti, Massimo; Minucci, Sergio
Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of CHM Gene Transcription 1-gen-2021 Fioretti, Tiziana; Di Iorio, Valentina; Lombardo, Barbara; De Falco, Francesca; Cevenini, Armando; Cattaneo, Fabio; Testa, Francesco; Pastore, Lucio; Simonelli, Francesca; Esposito, Gabriella
Molecular Diagnosis and Identification of Novel Pathogenic Variants in a Large Cohort of Italian Patients Affected by Polycystic Kidney Diseases 1-gen-2023 Nigro, Ersilia; Amicone, Maria; D'Arco, Daniela; Sellitti, Gina; De Marco, Oriana; Guarino, Maria; Riccio, Eleonora; Pisani, Antonio; Daniele, Aurora
Mosaic segmental and whole-chromosome upd(11)mat in silver-russell syndrome 1-gen-2021 Pignata, L.; Sparago, A.; Palumbo, O.; Andreucci, E.; Lapi, E.; Tenconi, R.; Carella, M.; Riccio, A.; Cerrato, F.
Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement 1-gen-2021 Vaisfeld, A; Bruno, G; Petracca, M; Bentivoglio, Ar; Servidei, S; Vita, Mg; Bove, F; Straccia, G; Dato, C; Di Iorio, G; Sampaolo, S; Peluso, S; De Rosa, A; De Michele, G; Barghigiani, M; Galatolo, D; Tessa, A; Santorelli, F; Chiurazzi, P; Melone, Mab.
New cross-talk layer between ultraconserved non-coding RNAs, microRNAs and polycomb protein YY1 in bladder cancer 1-gen-2016 Terreri, Sara; Durso, Montano; Colonna, Vincenza; Romanelli, Alessandra; Terracciano, Daniela; Ferro, Matteo; Perdonà, Sisto; Castaldo, Luigi; Febbraio, Ferdinando; de NIGRIS, Filomena; Cimmino, Amelia
Next-Generation Sequencing (NGS) Analysis Illustrates the Phenotypic Variability of Collagen Type IV Nephropathies 1-gen-2023 Zacchia, Miriam; Capolongo, Giovanna; Del Vecchio Blanco, Francesca; Secondulfo, Floriana; Gupta, Neha; Blasio, Giancarlo; Pollastro, Rosa Maria; Cervesato, Angela; Piluso, Giulio; Gigliotti, Giuseppe; Torella, Annalaura; Nigro, Vincenzo; Perna, Alessandra F; Capasso, Giovambattista; Trepiccione, Francesco
A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect 1-gen-2023 Fontana, Paolo; Budillon, Alberto; Simeone, Domenico; Del Vecchio Blanco, Francesca; Caiazza, Martina; D'Amico, Alessandra; Lonardo, Fortunato; Nigro, Vincenzo; Limongelli, Giuseppe; Scarano, Gioacchino
Pancreatic Cancer with Mutation in BRCA1/2, MLH1, and APC Genes: Phenotype Correlation and Detection of a Novel Germline BRCA2 Mutation 1-gen-2022 Vietri, M. T.; D'Elia, G.; Caliendo, G.; Albanese, L.; Signoriello, G.; Napoli, C.; Molinari, A. M.
Possible Effects of Uremic Toxins p-Cresol, Indoxyl Sulfate, p-Cresyl Sulfate on the Development and Progression of Colon Cancer in Patients with Chronic Renal Failure 1-gen-2023 Di Paola, Rossella; De, Ananya; Izhar, Raafiah; Abate, Marianna; Zappavigna, Silvia; Capasso, Anna; Perna, Alessandra F; La Russa, Antonella; Capasso, Giovambattista; Caraglia, Michele; Simeoni, Mariadelina
The Role of TRPM4 Gene Mutations in Causing Familial Progressive Cardiac Conduction Disease: A Further Contribution 1-gen-2022 Palladino, Alberto; Papa, Andrea Antonio; Petillo, Roberta; Scutifero, Marianna; Morra, Salvatore; Passamano, Luigia; Nigro, Vincenzo; Politano, Luisa
Severe Lymphatic Disorder and Multifocal Atrial Tachycardia Treated with Trametinib in a Patient with Noonan Syndrome and SOS1 Mutation 1-gen-2022 Lioncino, M.; Fusco, A.; Monda, E.; Colonna, D.; Sibilio, M.; Caiazza, M.; Magri, D.; Borrelli, A. C.; D'Onofrio, B.; Mazzella, M. L.; Colantuono, R.; Arienzo, M. R.; Sarubbi, B.; Russo, M. G.; Chello, G.; Limongelli, G.
Mostrati risultati da 21 a 40 di 46
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