publicações selecionadas
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artigo académico
- Mucolipidosis type II a/ß with a homozygous missense mutation in the GNPTAB gene.. American journal of medical genetics. Part A. 2012
- Mitochondrial lineages reveal intense gene flow between Iberian wild boars and South Iberian pig breeds.. Animal Genetics. 2012
- Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient.. JIMD reports. 2012
- Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.. Clinical Genetics. 2011
- Identification of mtDNA lineages of Sus scrofa by multiplex single base extension for the authentication of processed food products.. Journal of Agricultural and Food Chemistry. 2011
- Genetic profiles and sex identification of found-dead wolves determined by the use of an 11-loci PCR multiplex.. Forensic science international. Genetics. 2010
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artigo de revista