Paula
Sánchez Pintos
![Foto de Paula](/img/nophoto.png)
![Foto de Hospitais da Universidade de Coimbra](/img/noimage_org.png)
Hospitais da Universidade de Coimbra
Coímbra, PortugalPublications in collaboration with researchers from Hospitais da Universidade de Coimbra (2)
2022
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Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies
Journal of Clinical Medicine, Vol. 11, Núm. 10
2013
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Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: Regional experience and high incidence of carnitine deficiency
Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1