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List of works by Sofia Quental

A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia

scientific article published on 16 May 2014

Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient.

scientific article published on 20 October 2011

Incidence of maple syrup urine disease in Portugal

scientific article published on 22 April 2010

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

scientific article

Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community

scientific article

Molecular characterization of maple syrup urine disease patients from Tunisia

scientific article published on 9 January 2013

Outcome in acute lymphoblastic leukemia: Influence of thiopurine methyltransferase genetic polymorphisms

Pharmacogenetic Polymorphisms in a Portuguese Gypsy Population

article

Revisiting MSUD in Portuguese Gypsies: evidence for a founder mutation and for a mutational hotspot within the BCKDHA gene.

scientific article

The MTHFR C677T and A1298C polymorphisms and susceptibility to childhood acute lymphoblastic leukemia in Portugal

scientific article published in August 2005

The mutational spectrum of WT1 in male infertility.

scientific article published on 11 November 2014

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