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List of works by Rachel D Burnside

22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features

scientific article

A prenatally ascertained X;Y translocation characterized using conventional and molecular cytogenetics

scientific article published on 01 May 2008

Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN

scientific article published on 08 August 2018

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.

scientific article published on 27 February 2011

Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication.

scientific article published in July 2009

Partial monosomy of 11q22.2q22.3 including the SDHD gene in individuals with developmental delay

scientific article published on 03 March 2015

Prenatal diagnosis of two fetuses with deletions of 8p23.1, critical region for congenital diaphragmatic hernia and heart defects

scientific article published on 21 May 2013

Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.

scientific article published on 31 July 2015

Section E6.1-6.4 of the ACMG technical standards and guidelines: chromosome studies of neoplastic blood and bone marrow-acquired chromosomal abnormalities.

scientific article published on 28 April 2016

Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype

scientific article published on 12 March 2013

UPD detection using homozygosity profiling with a SNP genotyping microarray

scientific article published on 15 March 2011

Variable levels of tissue mosaicism can confound the interpretation of chromosomal microarray results from peripheral blood

scientific article published on 15 March 2014

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