Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Elena Benzoni"'
Autor:
Stefano Aliberti, Andrea Gramegna, Manuela Seia, Francesco Malvestiti, Marco Mantero, Giovanni Sotgiu, Edoardo Simonetta, Daniele Prati, Stefania Paganini, Ilaria Ferrarotti, Elena Benzoni, Anna Stainer, Martina Santambrogio, Laura Saderi, Alice M. Balderacchi, Luca Valenti, Angelo G. Corsico, Francesco Amati, Francesco Blasi
Publikováno v:
Archivos de Bronconeumología.
Autor:
Elena Cassinerio, Manuela Seia, Giovanna Graziadei, Claudia Cesaretti, Valentina Giannone, Cristina Curcio, Elena Benzoni
Publikováno v:
Journal of Medical Cases
Non-transfusion dependent thalassemia (NTDT) is an inherited hemoglobin disorder characterized by an ?/non-? globin chain imbalance of variable severity, resulting in a wide spectrum of clinical manifestations. The coinheritance of additional ? genes
Publikováno v:
American Journal of Biomedical Science & Research. 4:220-224
Publikováno v:
Hemoglobin. 43:4-6
Interest in α-globin point mutations has increased in the past few years because nondeletional variations can affect protein function and stability, giving rise to hemoglobin (Hb) variants that present a wide spectrum of phenotypes, from asymptomati
Publikováno v:
Hemoglobin. 43(1)
Interest in α-globin point mutations has increased in the past few years because nondeletional variations can affect protein function and stability, giving rise to hemoglobin (Hb) variants that present a wide spectrum of phenotypes, from asymptomati
Autor:
Laura Cavalleri, Elena Benzoni, Manuela Seia, Valentina Giannone, Laura Michetti, Cristina Curcio
Publikováno v:
Hemoglobin. 41(4-6)
Approximately 150 variants described in the HbVar database have been found to be unstable and about 80.0% of these are on the β-globin gene. We describe the case of a 3-year-old child who presented at the emergency room with fever and asthenia. Hema
Autor:
M. Robusto, Pierangela Castorina, Giulia Soldà, Stefano C. Previtali, Rosanna Asselta, Wangsheng Li, Umberto Ambrosetti, Xuanzhu Liu, Paola Primignani, Raimondo De Cristofaro, Elena Benzoni, Antonio Cesarani, Sonia Caccia, Mingyan Fang, Cong Yu, Xun Xu, Stefano Duga
Next-generation sequencing is currently the technology of choice for gene/mutation discovery in genetically-heterogeneous disorders, such as inherited sensorineural hearing loss (HL). Whole-exome sequencing of a single Italian proband affected by non
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cec5512dfa7600491c731f0b2edf09d
http://hdl.handle.net/10807/62660
http://hdl.handle.net/10807/62660
Autor:
Pierangela Castorina, Paola Primignani, M. Robusto, Elena Benzoni, Giulia Soldà, Antonio Cesarani, Stefano Duga, Umberto Ambrosetti, Rosanna Asselta
Publikováno v:
Human Molecular Genetics
The miR-96, miR-182 and miR-183 microRNA (miRNA) family is essential for differentiation and function of the vertebrate inner ear. Recently, point mutations within the seed region of miR-96 were reported in two Spanish families with autosomal dominan