Ceratose pilar e ulerythema ophryogenes em mulher com monossomia do braço curto do cromosomo 18 Keratosis pilaris and ulerythema ophryogenes in a woman with monosomy of the short a...

by Charles André Carvalho, André Vicente Esteves de Carvalho, Andrea Kiss, Giorgio Paskulin, Fernanda Mendes Götze
Published 2011-08-01

Relato de um paciente brasileiro com síndrome de Wolfram Report of a Brazilian patient with Wolfram syndrome

by Paulo R.G. Zen, Louise L.C. Pinto, Ida V.D. Schwartz, Timothy G. Barrett, Giorgio Paskulin
Published 2002-12-01

A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): an illustrative case in the investigation of patients with low ARSA activity

by Osvaldo Artigalás, Giorgio Paskulin, Mariluce Riegel, Maira Burin, Maria Luiza Saraiva-Pereira, Sharbel Maluf, Andrea Kiss, Ida Vanessa D. Schwartz
Published 2012-01-01