Publications

Export 1 results:
Author Title [ Year(Asc)]
Filters: Author is Martins, Bernardo J A F and Keyword is Consanguinity  [Clear All Filters]
2018
Carvalho, D. R., Medeiros, J. Eugenio G., Ribeiro, D. Sebestyan, Martins, B. J. A. F. & Sobreira, N. L. M. Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variant. Eur J Med Genet 61, 134-138 (2018).