Pubblicazioni

A new HLA-C*04 variant, HLA-C*04:01:106, discovered in an Italian hematopoietic stem cell donor

2019 - HLA
Catalano, Manuela; Preziosi, Nicoletta; Iaquinta, Giovanni; Testi, Manuela; Grammatico, Paola

Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study

2019 - FRONTIERS IN GENETICS
Graziola, F.; Garone, G.; Stregapede, F.; Bosco, L.; Vigevano, F.; Curatolo, P.; Bertini, E.; Travaglini, L.; Capuano, A.

A next-generation sequencing approach to identify gene mutations in early-and late-onset hypertrophic cardiomyopathy patients of an Italian cohort

2016 - INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Rubattu, Speranza; Bozzao, Cristina; Pennacchini, Ermelinda; Pagannone, Erika; Musumeci, Maria Beatrice; Piane, Maria; Germani, Aldo; Savio, Camilla; Francia, Pietro; Volpe, Massimo; Autore, Camillo; Chessa, Luciana

Mind the gap; seven reasons to close fragmented genome assemblies

2016 - FUNGAL GENETICS AND BIOLOGY
Thomma, Bart P. H. J.; Seidl, Michael F.; Shi-Kunne, Xiaoqian; Cook, David E.; Bolton, Melvin D.; van Kan, Jan A. L.; Faino, Luigi

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