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Authors whose works are in public domain in at least one jurisdiction

List of works by Sau Wai Cheung

51-61 of 61 results

Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation

scientific article published on 01 December 2007

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.

scientific article

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

scientific article published on 28 June 2017

Novel applications of array comparative genomic hybridization in molecular diagnostics

scientific article published on 31 May 2018

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

scientific article published on 24 June 2020

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

scientific article published on 23 April 2019

Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis

scientific article published on 26 August 2019

Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings

scientific article published on 06 May 2020

Confounding by repetitive elements and CpG islands does not explain the association between hypomethylation and genomic instability

scientific article

Cytogenetically visible inversions are formed by multiple molecular mechanisms

scientific article published on 09 September 2020

Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome

scientific article published on 14 November 2019