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Molecular Genetics & Genomic Medicine|April 19, 2020
A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disordersPernille A Gregersen, Victoria McKay, Maie Walsh, et al.
European Journal of Medical Genetics|October 5, 2019
Polymicrogyria associated with 17p13.3p13.2 duplication: Case report and review of the literatureChloe A Stutterd, David Francis, George McGillivray, et al.
The Australian & New Zealand Journal of Obstetrics & Gynaecology|January 30, 2014
High-resolution microarray in the assessment of fetal anomalies detected by ultrasoundPoonam Charan, Nicole Woodrow, Sue P Walker, et al.
American Journal of Medical Genetics. Part A|August 17, 2013
5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further casesNatasha Brown, Trent Burgess, Robin Forbes, et al.
Prenatal Diagnosis|February 17, 2017
Right-sided aortic arch in the age of microarrayEdward F O'Mahony, Darren P Hutchinson, George McGillivray, et al.
American Journal of Medical Genetics. Part A|November 23, 2007
The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: two new reportsMeredith Wilson, Gregory Peters, Bruce Bennetts, et al.
European Journal of Medical Genetics|June 9, 2018
Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathwayChloe Stutterd, George McGillivray, Zornitza Stark, et al.
Clinical Dysmorphology|March 15, 2006
Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disabilityKatie M G Snape, Michael C Fahey, George McGillivray, et al.
Child Neurology Open|November 21, 2017
X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea DiseaseDavid Coman, Tom Fullston, Cheryl Shoubridge, et al.
Prenatal Diagnosis|October 7, 2014
Managing fetuses at high risk of retinoblastoma: lesion detection on screening MRISandra E Staffieri, George McGillivray, James E Elder, et al.
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