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Annals of Human Genetics|April 6, 2011
Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large populationEmanuela Leonardi, Maddalena Martella, Silvio C E Tosatto, et al.
Molecular Diagnosis & Therapy|August 4, 2006
Molecular characterization of large deletions in the von Hippel-Lindau (VHL) gene by quantitative real-time PCR: the hypothesis of an alu-mediated mechanism underlying VHL gene rearrangementsAlberto Casarin, Maddalena Martella, Roberta Polli, et al.
International Journal of Audiology|September 6, 2002
Connexin 26 preverbal hearing impairment: mutation prevalence and heterozygosity in a selected populationEva Orzan, Alessandra Murgia, Roberta Polli, et al.
Haematologica|June 1, 2005
Low frequency of VHL gene mutations in young individuals with polycythemia and high serum erythropoietinMaria Luigia Randi, Alessandra Murgia, Maria Caterina Putti, et al.
Journal of Human Genetics|September 29, 2006
Molecular analysis of two uncharacterized sequence variants of the VHL geneMaddalena Martella, Leonardo Salviati, Alberto Casarin, et al.
Neonatology|March 31, 2021
Neonatal-Onset Familial Mediterranean Fever in an Infant with Human Parainfluenza Virus-4 InfectionAlexandre Michev, Alessandro Borghesi, Caterina Tretti, et al.
Frontiers in Pediatrics|October 27, 2023
Hematological characteristics and hepatobiliary complications of hereditary spherocytosis in a tertiary care pediatric center: optimizing diagnosis and care through local and international networksMaria Paola Boaro, Giulia Reggiani, Mirco D'Agnolo, et al.
International Journal of Neonatal Screening|October 19, 2020
Evaluation of Technical Issues in a Pilot Multicenter Newborn Screening Program for Sickle Cell DiseaseMaddalena Martella, Giampietro Viola, Silvia Azzena, et al.
Pediatric Blood & Cancer|September 26, 2022
Point-of-care testing allows successful simultaneous screening of sickle cell disease, HIV, and tuberculosis for households in rural Guinea-Bissau, West AfricaFederica Menzato, Luca Bosa, Armando Sifna, et al.
Pediatric Blood & Cancer|March 30, 2024
Early-onset indicators of a hypercoagulable state and clinical complications in a cohort of children with sickle cell traitGiulia Reggiani, Maria Paola Boaro, Federica Menzato, et al.
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