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Clinical Genetics|May 26, 2010
Developmental perspectives on copy number abnormalities of the 22q11.2 regionT Y Tan, C T Gordon, D J Amor, et al.
Human Reproduction (Oxford, England)|March 3, 2011
Looking downstream: a review of the literature on physical and psychosocial health outcomes in adolescents and young adults who were conceived by ARTC L Wilson, J R Fisher, K Hammarberg, et al.
Journal of Intellectual Disability Research : JIDR|June 17, 2022
Feasibility of wearable technology for 'real-world' gait analysis in children with Prader-Willi and Angelman syndromesC M Kraan, P Date, A Rattray, et al.
Human Reproduction (Oxford, England)|February 28, 2009
Pregnancies conceived using assisted reproductive technologies (ART) have low levels of pregnancy-associated plasma protein-A (PAPP-A) leading to a high rate of false-positive results in first trimester screening for Down syndromeD J Amor, J X Xu, J L Halliday, et al.
Human Reproduction Open|October 9, 2020
Health and fertility of ICSI-conceived young men: study protocolS R Catford, S Lewis, J Halliday, et al.
Human Reproduction (Oxford, England)|September 27, 2022
The metabolic health of young men conceived using intracytoplasmic sperm injectionS R Catford, J Halliday, S Lewis, et al.
Journal of Medical Genetics|November 1, 2011
Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotypingD L Bruno, S M White, D Ganesamoorthy, et al.
BJOG : an International Journal of Obstetrics and Gynaecology|January 22, 2013
Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?D Ganesamoorthy, D L Bruno, G McGillivray, et al.
Journal of Medical Genetics|November 19, 2008
Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practiceD L Bruno, D Ganesamoorthy, J Schoumans, et al.
Neurogastroenterology and Motility|May 22, 2018
Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstructionG Ravenscroft, S Pannell, G O'Grady, et al.
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