| Bárbara Rodrigues, MSc |
PhD Student
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Roles in UMIB:
PhD Student
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Selected publications: Maia N, Nabais Sá MJ, Tkachenko N, Soares G, Marques I, Rodrigues B, Fortuna AM, Santos R, Brouwer A PM and Jorge P. Two novel pathogenic MID1 variants and genotype-phenotype correlation reanalysis in X-linked Opitz G/BBB syndrome. Molecular Syndromology 9:45-51 (2018) (doi: 10.1159/000479177). Jorge P, Gracia E, Gonçalves AR, Marque I, Maia N, Rodrigues B, Santos H, Fonseca J, Soares G, Correia C, Reis-Lima M, Vincenzo C and Santos R. Comprehensive genomic studies decipher the classical Fragile-X phenotype in a female infant. BMC Medical Genetics 19:74 (2018) (doi: 10.1186/s12881-018-0589-6).
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Maia N, Nabais Sá MJ, Tkachenko N, Soares G, Marques I, Rodrigues B, Fortuna AM, Santos
R, Brouwer A PM and Jorge P. Two novel
pathogenic MID1 variants and genotype-phenotype correlation reanalysis in
X-linked Opitz G/BBB syndrome. Molecular Syndromology 9:45-51 (2018) (doi: 10.1159/000479177).
- Jorge P, Gracia E, Gonçalves AR, Marque I,
Maia N, Rodrigues B, Santos
H, Fonseca J, Soares G, Correia C, Reis-Lima M, Vincenzo C and Santos R. Comprehensive genomic studies decipher the
classical Fragile-X phenotype in a female infant. BMC Medical Genetics 19:74 (2018) (doi: 10.1186/s12881-018-0589-6)
