Associated Papers
Epidemiology of Mucopolysaccharidoses Update.
Çelik B et al.
Diagnostics (basel, Switzerland), 2021
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Koumbaris G et al.
Molecular Cytogenetics, 2019
31832098 (PubMed )
Supplement: 13039_2019_459_MOESM4_ESM.xlsx › Sheet1
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.
Valstar MJ et al.
Human Mutation, 2010
Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene.
Jansen AC et al.
Archives of Neurology, 2007
Select a paper to view details