C. A. Kim

Case report. Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation.

M. Zenker, Y. Koda, D. Bertola, 2014 .

High specificity PCR screening for 22q11.2 microdeletion in three different ethnic groups.

J. Krieger, S. F. Mesquita, G. F. Mota, 2003, Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas.

Phenotypic heterogeneity in 22q11.2 deletion syndrome: Copy Number Variants as genetic modifiers for congenital heart disease in a Brazilian cohort

M. I. Melaragno, V. L. Gil-da-Silva-Lopes, M. Moyses-Oliveira, 2023, American journal of medical genetics. Part A.

Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations.

M. Passos-Bueno, M. Zatz, N. Damaceno, 2000, Genetic testing.

Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II).

R. Giugliani, D. Bertola, S. Leistner-Segal, 2012, JIMD reports.

Noonan syndrome: a clinical and genetic study of 31 patients.

D. Bertola, L. Albano, S. Sugayama, 1999, Revista do Hospital das Clinicas.

A Possible Role of Different PTPN Genes in Immune Regulation

A. Pereira, R. L. Dutra, A. Brasil, 2012, Scandinavian journal of immunology.