Associated Papers
Non-invasive prenatal testing (NIPT): Combination of copy number variant and gene analyses using an "in-house" target enrichment next generation sequencing-Solution for non-centralized NIPT laboratory?
Faldynová L et al.
Prenatal Diagnosis, 2023
Initiation and discontinuation of substrate inhibitor treatment in patients with Niemann-Pick type C disease.
Pérez-Poyato MS et al.
Gene, 2012
Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain.
Macías-Vidal J et al.
Molecular Genetics and Metabolism, 2009
Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.
Fernandez-Valero EM et al.
Clinical Genetics, 2005
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