Paola Primignani

A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (<i>OTOF</i>) in subjects with nonsyndromic hearing impairment and auditory neuropathy

Montserrat Rodríguez-Ballesteros, Raúl Reynoso, M. A. Gil Olarte et al. · Human Mutation · 2008 · 178 citations

A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing

Giulia Soldà, Michela Robusto, Paola Primignani et al. · Human Molecular Genetics · 2011 · 107 citations · Full text

Mir96 Gene, Pre-mirna Processing, Genetics +22

Genetic diagnosis by chorionic villus sampling before 8 gestational weeks: Efficiency, reliability, and risks on 317 completed pregnancies

B. Brambati, Giuseppe Simoni, Maurizio Travi et al. · Prenatal Diagnosis · 1992 · 95 citations

Prenatal diagnosis of fetal hemoglobin Lepore-Boston disease on maternal peripheral blood

Clara Camaschella, A Alfarano, Enrico Gottardi et al. · Blood · 1990 · 93 citations · Full text

Chronic hypercalcaemia from inactivating mutations of vitamin D 24-hydroxylase (CYP24A1): implications for mineral metabolism changes in chronic renal failure

Giacomo Colussi, Liat Ganon, Silvana Penco et al. · Nephrology Dialysis Transplantation · 2013 · 60 citations