Bertola, Débora Romeo

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation

Guo, L., Bertola, D. R., Takanohashi, A., Saito, A., Segawa, Y., Yokota, T., Ishibashi, S., Nishida, Y., Yamamoto, G. L., Franco, J. F. D. S., et al. (2019) · The American Journal of Human Genetics

Bone Metabolism and DiseasesConnective tissue disorders research

Cited by 133

High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation

Jehee, F. S., Krepischi-Santos, A. C. V., Rocha, K. M., Cavalcanti, D. P., Kim, C. A., Bertola, D. R., Alonso, L. G., D’Angelo, C. S., Mazzeu, J. F., Froyen, G., et al. (2008) · Journal of Medical Genetics

Craniofacial Disorders and TreatmentsGenomic variations and chromosomal abnormalities

Cited by 41

Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency

Bonamichi, B. D. S. F., Santiago, S. L. M., Bertola, D. R., Kim, C. A., Alonso, N., Mendonca, B. B., Bachega, T. A. S. S., & Gomes, L. G. (2016) · Archives of Endocrinology and Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 19