Delineation of 2q32q35 Deletion Phenotypes: Two Apparent “Proximal” and “Distal” Syndromes

by Adrian Mc Cormack, Juliet Taylor, Nerine Gregersen, Alice M. George, Donald R. Love
Published 2013-01-01

A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features

by Adrian Mc Cormack, Juliet Taylor, Leah Te Weehi, Donald R. Love, Alice M. George
Published 2014-01-01

A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker

by Roberto L. P. Mazzaschi, Juliet Taylor, Stephen P. Robertson, Donald R. Love, Alice M. George
Published 2014-01-01

Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1

by Jessie C. Jacobsen, Emma Glamuzina, Juliet Taylor, Brendan Swan, Shona Handisides, Callum Wilson, Michael Fietz, Tessa van Dijk, Bart Appelhof, Rosamund Hill, Rosemary Marks, Donald R. Love, Stephen P. Robertson, Russell G. Snell, Klaus Lehnert
Published 2015-01-01

Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome

by Vinod Dagar, Wendy Hutchison, Andrea Muscat, Anita Krishnan, David Hoke, Ashley Buckle, Priscillia Siswara, David J. Amor, Jeffrey Mann, Jason Pinner, Alison Colley, Meredith Wilson, Rani Sachdev, George McGillivray, Matthew Edwards, Edwin Kirk, Felicity Collins, Kristi Jones, Juliet Taylor, Ian Hayes, Elizabeth Thompson, Christopher Barnett, Eric Haan, Mary-Louise Freckmann, Anne Turner, Susan White, Ben Kamien, Alan Ma, Fiona Mackenzie, Gareth Baynam, Cathy Kiraly-Borri, Michael Field, Tracey Dudding-Byth, Elizabeth M. Algar
Published 2018-08-01