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

Clinical genetics, 2009-07, Vol.76 (1), p.76-84

2009

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

Clinical genetics, 2012-04, Vol.81 (4), p.379-393

2012

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Molecular characterization of maple syrup urine disease patients from Tunisia

Gene, 2013-03, Vol.517 (1), p.116-119

2013

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

Clinical genetics, 2015-08, Vol.88 (2), p.190-194

2015

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

Clinical genetics, 2011-09, Vol.80 (3), p.273-280

2011

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Diversity of mtDNA lineages in Portugal: not a genetic edge of European variation

Annals of human genetics, 2000-11, Vol.64 (6), p.491-506

2000

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Pharmacogenetically relevant polymorphisms in Portugal

Pharmacogenomics, 2007-07, Vol.8 (7), p.703-712

2007

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Do the distribution patterns of polymorphisms at the thiopurine S-methyltransferase locus in sub-Saharan populations need revision? Hints from Cabinda and Mozambique

European journal of clinical pharmacology, 2007-07, Vol.63 (7), p.703-706

2007

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Mitochondrial portrait of the Cabo Verde archipelago: the Senegambian outpost of Atlantic slave trade

Annals of human genetics, 2002-01, Vol.66 (1), p.49-60

2002

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Prehistoric and historic traces in the mtDNA of Mozambique: insights into the Bantu expansions and the slave trade

Annals of human genetics, 2001-09, Vol.65 (5), p.439-458

2001

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

Clinical genetics, 2008-03, Vol.73 (3), p.251-256

2008

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The GSTM1 and GSTT1 genetic polymorphisms and susceptibility to acute lymphoblastic leukemia in children from north Portugal

Leukemia, 2002-08, Vol.16 (8), p.1565-1567

2002

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Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations

Journal of inherited metabolic disease, 2006-12, Vol.29 (6), p.743-754

2006

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In search of the Pre‐ and Post‐Neolithic Genetic Substrates in Iberia: Evidence from Y‐Chromosome in Pyrenean Populations

Annals of human genetics, 2009-01, Vol.73 (1), p.42-53

2009

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

Clinical genetics, 2008-08, Vol.74 (2), p.194-195

2008

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Bantu and European Y‐lineages in Sub‐Saharan Africa

Annals of human genetics, 2002-11, Vol.66 (5‐6), p.369-378

2002

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Mirandese language and genetic differentiation in Iberia: a study using X chromosome markers

Annals of human biology, 2015-01, Vol.42 (1), p.20-25

2015

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Analysis of Y‐chromosome Variability and its Comparison with mtDNA Variability Reveals Different Demographic Histories Between Islands in the Azores Archipelago (Portugal)

Annals of human genetics, 2005-03, Vol.69 (2), p.135-144

2005

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Pattern of mtDNA Variation in Three Populations from São Tomé e Príncipe

Annals of human genetics, 2004-01, Vol.68 (1), p.40-54

2004

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Tracing the Origin of the Most Common Thiopurine Methyltransferase (TPMT) Variants: Preliminary Data from the Patterns of Haplotypic Association with Two CA Repeats

Annals of human genetics, 2004-07, Vol.68 (4), p.313-323

2004

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Frequency of the thiopurine S-methyltransferase alleles in the ancient genetic population isolate of Sardinia

Journal of clinical pharmacy and therapeutics, 2006-06, Vol.31 (3), p.283-287

2006

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Dissecting the Genetic History of São Tomé e Príncipe: A New Window from Y‐Chromosome Biallelic Markers

Annals of human genetics, 2007-01, Vol.71 (1), p.77-85

2007

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A Perspective on the History of the Iberian Gypsies Provided by Phylogeographic Analysis of Y‐Chromosome Lineages

Annals of human genetics, 2008-03, Vol.72 (2), p.215-227

2008

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Evidence for population sub-structuring in São Tomé e Príncipe as inferred from Y-chromosome STR analysis

Annals of human genetics, 2001-05, Vol.65 (3), p.271-283

2001

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Bantu and European Y-lineages in Sub-Saharan Africa

Annals of human genetics, 2002-11, Vol.66 (5-6), p.369-378

2002

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

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

Molecular characterization of maple syrup urine disease patients from Tunisia

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

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

Diversity of mtDNA lineages in Portugal: not a genetic edge of European variation

Pharmacogenetically relevant polymorphisms in Portugal

Do the distribution patterns of polymorphisms at the thiopurine S-methyltransferase locus in sub-Saharan populations need revision? Hints from Cabinda and Mozambique

Mitochondrial portrait of the Cabo Verde archipelago: the Senegambian outpost of Atlantic slave trade

Prehistoric and historic traces in the mtDNA of Mozambique: insights into the Bantu expansions and the slave trade

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

The GSTM1 and GSTT1 genetic polymorphisms and susceptibility to acute lymphoblastic leukemia in children from north Portugal

Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations

In search of the Pre‐ and Post‐Neolithic Genetic Substrates in Iberia: Evidence from Y‐Chromosome in Pyrenean Populations

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

Bantu and European Y‐lineages in Sub‐Saharan Africa

Mirandese language and genetic differentiation in Iberia: a study using X chromosome markers

Analysis of Y‐chromosome Variability and its Comparison with mtDNA Variability Reveals Different Demographic Histories Between Islands in the Azores Archipelago (Portugal)

Pattern of mtDNA Variation in Three Populations from São Tomé e Príncipe

Tracing the Origin of the Most Common Thiopurine Methyltransferase (TPMT) Variants: Preliminary Data from the Patterns of Haplotypic Association with Two CA Repeats

Frequency of the thiopurine S-methyltransferase alleles in the ancient genetic population isolate of Sardinia

Dissecting the Genetic History of São Tomé e Príncipe: A New Window from Y‐Chromosome Biallelic Markers

A Perspective on the History of the Iberian Gypsies Provided by Phylogeographic Analysis of Y‐Chromosome Lineages

Evidence for population sub-structuring in São Tomé e Príncipe as inferred from Y-chromosome STR analysis

Bantu and European Y-lineages in Sub-Saharan Africa

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