Associated Papers
Clinical, biochemical, and molecular characterization of a cohort of Egyptian patients with Sanfilippo B syndrome (MPS IIIB): Bayesian Gaussian mixture model.
Fateen E et al.
Molecular Biology Reports, 2025
Clinical and Molecular Characterization of Mucopolysaccharidosis Type 3A and 3B in a Turkish Series.
Noyan B et al.
Molecular Syndromology, 2024
Frequency of genotypic markers for genetic disorders, colour, polledness, and major genes in Blanco Orejinegro cattle.
Caivio-Nasner S et al.
Tropical Animal Health and Production, 2021
An exonic insertion in the NAGLU gene causing Mucopolysaccharidosis IIIB in Schipperke dogs.
Raj K et al.
Scientific Reports, 2020
Structural characterization of the α-N-acetylglucosaminidase, a key enzyme in the pathogenesis of Sanfilippo syndrome B.
Birrane G et al.
Journal of Structural Biology, 2019
Prediction of deleterious mutations in coding regions of mammals with transfer learning.
Plekhanova E et al.
Evolutionary Applications, 2019
30622632 (PubMed )
Supplement: EVA-12-18-s002.xlsx › ____1
Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage.
Jansen S et al.
Bmc Genomics, 2013
23826801 (PubMed )
Supplement: 1471-2164-14-446-S6.xls › Sheet1
Bovine mucopolysaccharidosis type IIIB.
Karageorgos L et al.
Journal of Inherited Metabolic Disease, 2007
Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB).
Beesley CE et al.
Journal of Inherited Metabolic Disease, 2005
Sanfilippo B syndrome: molecular defects in Greek patients.
Beesley C et al.
Clinical Genetics, 2004
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