Alessandra Murgia

Università degli Studi di Padova - Padova / Italy

Medical and Health Sciences / Pediatrics and Child Health

AD Scientific Index ID: 1874120

University of Padua

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Alessandra Murgia's MOST POPULAR ARTICLES

1-) GJB2 mutations and degree of hearing loss: a multicenter studyRL Snoeckx, PLM Huygen, D Feldmann, S Marlin, F Denoyelle, ...The American Journal of Human Genetics 77 (6), 945-957, 20056082005

2-) A novel deletion involving the connexin-30 gene, del (GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing …FJ Del Castillo, M Rodriguez-Ballesteros, A Alvarez, T Hutchin, ...Journal of medical genetics 42 (7), 588-594, 20053532005

3-) The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathyS Fehr, M Wilson, J Downs, S Williams, A Murgia, S Sartori, M Vecchi, ...European Journal of Human Genetics 21 (3), 266-273, 20133192013

4-) A genotype-phenotype correlation for GJB2 (connexin 26) deafnessK Cryns, E Orzan, A Murgia, PLM Huygen, F Moreno, I Del Castillo, ...Journal of medical genetics 41 (3), 147-154, 20043202004

5-) Cx26 deafness: mutation analysis and clinical variabilityA Murgia, E Orzan, R Polli, M Martella, C Vinanzi, E Leonardi, E Arslan, ...Journal of medical genetics 36 (11), 829-832, 19992101999

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