Giugliani, Roberto

Allelic Heterogeneity in the COH1 Gene Explains Clinical Variabilityin Cohen Syndrome

Hennies, H. C., Rauch, A., Seifert, W., Schumi, C., Moser, E., Al-Taji, E., Tariverdian, G., Chrzanowska, K. H., Krajewska-Walasek, M., Rajab, A., et al. (2004) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 90

Genetic causes of intellectual disability in a birth cohort: A population‐based study

Karam, S. M., Riegel, M., Segal, S. L., Félix, T. M., Barros, A. J. D., Santos, I. S., Matijasevich, A., Giugliani, R., & Black, M. (2015) · American Journal of Medical Genetics Part A

Down syndrome and intellectual disability researchGenomics and Rare Diseases

Cited by 69

X-linked adrenoleukodystrophy: Clinical course and minimal incidence in South Brazil

Jardim, L. B., da Silva, A. C. F., Blank, D., Villanueva, M. M., Renck, L., La Bella Costa, M., Vargas, C. R., Deon, M., Coelho, D. L. M., Vedolin, L., et al. (2010) · Brain and Development

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 24

A Brazilian galactosialidosis patient given renal transplantation: A case report

Kiss, A., Zen, P. R. G., Bittencourt, V., Paskulin, G. A., Giugliani, R., d'Azzo, A., & Schwartz, I. V. (2008) · Journal of Inherited Metabolic Disease

Lysosomal Storage Disorders ResearchMetabolism and Genetic Disorders

Cited by 8

X-linked adrenoleukodystrophy: clinical and laboratory findings in 15 Brazilian patients

Vargas, C. R., Coelho, D. D. M., Barschak, A. G., Souza, C. F. M. D., Puga, A. C. S., Schwartz, I. V. D., Jardim, L., & Giugliani, R. (2000) · Genetics and Molecular Biology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 6