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Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (DMD).
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 1, p. 59, doi. 10.3390/ijms23010059
By:
- Gonçalves, Ana;
- Fortuna, Ana;
- Ariyurek, Yavuz;
- Oliveira, Márcia E.;
- Nadais, Goreti;
- Pinheiro, Jorge;
- den Dunnen, Johan T.;
- Sousa, Mário;
- Oliveira, Jorge;
- Santos, Rosário
Publication type:
Article
Epidemiology of myasthenia gravis in Northern Portugal: Frequency estimates and clinical epidemiological distribution of cases.
Published in:
2016
By:
- Santos, Ernestina;
- Coutinho, Ester;
- Moreira, Isabel;
- Silva, Ana Martins;
- Lopes, Dina;
- Costa, Henrique;
- Silveira, Fernando;
- Nadais, Goreti;
- Morais, Hugo;
- Martins, João;
- Branco, Maria Ceu;
- Veiga, Andreia;
- Silva, Rosa Santos;
- Ferreira, Augusto;
- Sousa, Filipa;
- Freijo, Marta;
- Matos, Ilda;
- André, Rui;
- Negrão, Luís;
- Fraga, Carla
Publication type:
journal article
BSCL2 N88S mutation in A Portuguese patient with the Silver syndrome.
Published in:
Muscle & Nerve, 2015, v. 51, n. 3, p. 456, doi. 10.1002/mus.24455
By:
- Monteiro, Ana;
- Real, Raquel;
- Nadais, Goreti;
- Silveira, Fernando;
- Leão, Miguel
Publication type:
Article
VASCULITIC NEUROPATHY.
Published in:
Acta Reumatológica Portuguesa, 2011, v. 36, n. 2, p. 102
By:
- Sampaio, Luzia;
- Silva, Lígia;
- Terroso, Georgina;
- Nadais, Goreti;
- Mariz, Eva;
- Ventura, Francisco
Publication type:
Article

Found: 4

Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (DMD).

Epidemiology of myasthenia gravis in Northern Portugal: Frequency estimates and clinical epidemiological distribution of cases.

BSCL2 N88S mutation in A Portuguese patient with the Silver syndrome.

VASCULITIC NEUROPATHY.