Suchergebnisse - "Coutinho, M"

PubPharm (7)

1

Molecular and computational analyses of genes involved in mannose 6-phosphate independent trafficking

enthalten in: Clinical genetics | 2015

von Coutinho, M. | Lacerda, L. | Pinto, E. | +5

2

Molecular and computational analyses of genes involved in mannose 6‐phosphate independent trafficking

enthalten in: Clinical genetics | 2015

von Coutinho, M. | Lacerda, L. | Pinto, E. | +5

3

Lysosomal multienzymatic complex-related diseases : a genetic study among Portuguese patients

enthalten in: Clinical genetics | 2012

von Coutinho, M. | Lacerda, L. | Macedo-Ribeiro, S. | +4

4

Origin and spread of a common deletion causing mucolipidosis type II : insights from patterns of haplotypic diversity

enthalten in: Clinical genetics | 2011

von Coutinho, M. | Encarnação, M. | Gomes, R. | +13

5

Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations

enthalten in: Clinical genetics | 2009

von Encarnação, M. | Lacerda, L. | Costa, R. | +11

6

Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC : two novel mutations in the HGSNAT gene

enthalten in: Clinical genetics | 2008

von Coutinho, M. | Lacerda, L. | Prata, M. | +4

7

Molecular analysis of mucopolysaccharidosis type IIIB in Portugal : evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula

enthalten in: Clinical genetics | 2008

von Mangas, M. | Nogueira, C. | Prata, M. | +9

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