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BMJ Case Reports|May 19, 2012
Aneurysmal 'pepper-pot' atrial septal defect in an older gentleman with multiple cerebrovascular attacksEwan J Mckay, Reza Ashrafi, Victoria Mckay, et al.Familial Cancer|September 21, 2015
First report of somatic mosaicism for mutations in STK11 in four patients with Peutz-Jeghers syndromeVictoria McKay, Diane Cairns, David Gokhale, et al.The British Journal of Cardiology|August 15, 2024
Screening for the vulnerable aorta: targeting high-risk groups in the populationRiccardo Proietti, Mark Field, Victoria McKay, et al.The Canadian Journal of Cardiology|May 15, 2016
Ventricular Hinge Point Fibrosis as a Pathological Marker of Hypertrophic Cardiomyopathy in the Absence of Significant Left Ventricular Hypertrophy?Wern Yew Ding, Robert M Cooper, Jonathan Hasleton, et al.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.Journal of Paediatrics and Child Health|April 28, 2017
Current use of chromosomal microarray by Australian paediatricians and implications for the implementation of next generation sequencingVictoria McKay, Daryl Efron, Elizabeth E Palmer, et al.European Journal of Medical Genetics|December 5, 2016
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individualsMira Kharbanda, Daniela T Pilz, Susan Tomkins, et al.Journal of Medical Genetics|October 13, 2017
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disabilityMark J Hamilton, Richard C Caswell, Natalie Canham, et al.Human Genetics|February 22, 2018
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomaliesFabiola Ceroni, Domingo Aguilera-Garcia, Nicolas Chassaing, et al.Nature Genetics|September 19, 2018
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylationM Felicia Basilicata, Ange-Line Bruel, Giuseppe Semplicio, et al.Pageof 2