F. Martins

Polycomb Repressive Complex 2-controlled Essrg regulates intestinal Microfold cell differentiation

P. Katajisto, M. Kaikkonen, H. Niskanen, 2020 .

Optimization of a genotyping screening based on hydrolysis probes to detect the main mutations related to Leber hereditary optic neuropathy (LHON)

A. Maciel-Guerra, E. Sartorato, F. Martins, 2017, Molecular vision.

Searching for digenic inheritance in deaf Brazilian individuals using the multiplex ligation-dependent probe amplification technique.

E. Sartorato, A. Marques-de-Faria, F. Martins, 2011, Genetic testing and molecular biomarkers.

Genetic Diagnosis of Deafness

E. Sartorato, F. Martins, S. M. da Silva Costa, 2017 .

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1

T. Walsh, M. King, N. Shomron, 2020, bioRxiv.

Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology

E. Sartorato, N. Z. D. dos Santos, A. Castilho, 2015, BMC Medical Genetics.

Optimization of simultaneous screening of the main mutations involved in non-syndromic deafness using the TaqMan® OpenArray™ Genotyping Platform

E. Sartorato, A. Castilho, F. Martins, 2013, BMC Medical Genetics.

A rare case of deafness and renal abnormalities in HDR syndrome caused by a de novo mutation in the GATA3 gene

E. Sartorato, F. Martins, Berenice Dias Ramos, 2018, Genetics and molecular biology.