Luis Pablo Gravina

Carrier frequency of the 35delG and A1555G deafness mutations in the Argentinean population

Luis Pablo Gravina, María Eugenia Foncuberta, Rosaura Caron Estrada et al. · International Journal of Pediatric Otorhinolaryngology · 2007 · 33 citations

Carrier Frequency, Allelic Variant, A1555g Deafness Mutations +10

Providing more evidence on <i>LZTR1</i> variants in Noonan syndrome patients

Josefina Chinton, Victoria Huckstadt, Mafalda Mucciolo et al. · American Journal of Medical Genetics Part A · 2019 · 31 citations

Change in Prevalence of Congenital Defects in Children With Prader-Willi Syndrome

M Torrado, María Eugenia Foncuberta, M.F. de Castro Perez et al. · PEDIATRICS · 2013 · 30 citations

Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2

Luis Pablo Gravina, María Eugenia Foncuberta, Maria Eugenia Giraldo Prieto et al. · International Journal of Pediatric Otorhinolaryngology · 2009 · 29 citations

Genetic Disorder, Medicine, Genetics +11

Genotype–phenotype correlation of SMN locus genes in spinal muscular atrophy children from Argentina

Sofía Medrano, Soledad Monges, Luis Pablo Gravina et al. · European Journal of Paediatric Neurology · 2016 · 25 citations · Full text

Genetic Analysis, Developmental Biology, Genetic Disorder +8