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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 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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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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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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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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Expression of immune response genes in peripheral blood of cattle infested with Rhipicephalus microplus

Genetics and molecular research, 2014-05, Vol.13 (2), p.4013-4021

2014

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Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination

Journal of inherited metabolic disease, 2008-12, Vol.31 (Suppl 2), p.457-460

2008

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Genetic parameters for milk production traits and breeding goals for Gir dairy cattle in Brazil

Genetics and molecular research, 2015-10, Vol.14 (4), p.12585-12594

2015

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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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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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Association of BoLA-DRB3.2 alleles with tick (Boophilus microplus) resistance in cattle

Genetics and molecular research, 2006-01, Vol.5 (3), p.513-524

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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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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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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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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Expressed sequenced tags profiling of resistant and susceptible Gyr x Holstein cattle infested with the tick Rhipicephalus (Boophilus) microplus

Genetics and molecular research, 2011-11, Vol.10 (4), p.3803-3816

2011

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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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Differential expression of genes in resistant versus susceptible Gyr x Holstein cattle challenged with the tick Rhipicephalus (Boophilus) microplus

Genetics and molecular research, 2010-10, Vol.9 (4), p.1974-1979

2010

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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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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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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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Screening of thiopurine S-methyltransferase mutations by horizontal conformation-sensitive gel electrophoresis

Human mutation, 2000-03, Vol.15 (3), p.246-253

2000

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Molecular characterization of maple syrup urine disease patients from Tunisia

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

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

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

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

Expression of immune response genes in peripheral blood of cattle infested with Rhipicephalus microplus

Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination

Genetic parameters for milk production traits and breeding goals for Gir dairy cattle in Brazil

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

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

Association of BoLA-DRB3.2 alleles with tick (Boophilus microplus) resistance in cattle

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

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

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

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

Expressed sequenced tags profiling of resistant and susceptible Gyr x Holstein cattle infested with the tick Rhipicephalus (Boophilus) microplus

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

Bantu and European Y‐lineages in Sub‐Saharan Africa

Differential expression of genes in resistant versus susceptible Gyr x Holstein cattle challenged with the tick Rhipicephalus (Boophilus) microplus

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

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

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

Screening of thiopurine S-methyltransferase mutations by horizontal conformation-sensitive gel electrophoresis

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