The Diagnosis of Choriocarcinoma in Molar Pregnancies: A Revised Approach in Clinical Testing

Autor Duffy, Lisa, Zhang, Liangtao, Sheath, Karen, Love, Donald R., George, Alice M.
Vydáno v J Clin Med Res (2015)

Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay

Autor Al-Murrani, Amel, Ashton, Fern, Aftimos, Salim, George, Alice M., Love, Donald R.
Vydáno 2012

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

Autor Mc Cormack, Adrian, Taylor, Juliet, Gregersen, Nerine, George, Alice M., Love, Donald R.
Vydáno 2013

Implications of a Chr7q21.11 Microdeletion and the Role of the PCLO Gene in Developmental Delay

Autor Mazzaschi, Roberto L., Ashton, Fern, Aftimos, Salim, George, Alice M., Love, Donald R.
Vydáno 2013

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

Autor Mc Cormack, Adrian, Taylor, Juliet, Te Weehi, Leah, Love, Donald R., George, Alice M.
Vydáno 2014

A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker

Autor Mazzaschi, Roberto L. P., Taylor, Juliet, Robertson, Stephen P., Love, Donald R., George, Alice M.
Vydáno 2014

A Rare Chromosome 3 Imbalance and Its Clinical Implications

Autor Sims, Karen, Mazzaschi, Roberto L. P., Payne, Emilie, Hayes, Ian, Love, Donald R., George, Alice M.
Vydáno 2012

Clinical Outcomes and Counselling Issues regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay

Autor Sheath, Karen L., Mazzaschi, Roberto L., Aftimos, Salim, Gregersen, Nerine E., George, Alice M., Love, Donald R.
Vydáno 2013

12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region

Autor Mc Cormack, Adrian, Sharpe, Cynthia, Gregersen, Nerine, Smith, Warwick, Hayes, Ian, George, Alice M., Love, Donald R.
Vydáno v Case Rep Genet (2015)

Array-based Identification of Copy Number Changes in a Diagnostic Setting: Simultaneous gene-focused and low resolution whole human genome analysis

Autor Marquis-Nicholson, Renate, Doherty, Elaine, Love, Jennifer M., Lan, Chuan-Ching, George, Alice M., Thrush, Anthony, Love, Donald R.
Vydáno 2013

Microduplication of 3p26.3 Implicated in Cognitive Development

Autor Te Weehi, Leah, Maikoo, Raj, Mc Cormack, Adrian, Mazzaschi, Roberto, Ashton, Fern, Zhang, Liangtao, George, Alice M., Love, Donald R.
Vydáno 2014

Pure Duplication of the Distal Long Arm of Chromosome 15 with Ebstein Anomaly and Clavicular Anomaly

Autor O'Connor, Rachel, Al-Murrani, Amel, Aftimos, Salim, Asquith, Philip, Mazzaschi, Roberto, Eyrolle-Guignot, Dominique, George, Alice M., Love, Donald R.
Vydáno 2011

A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities

Autor Singh, Shalinder, Ashton, Fern, Marquis-Nicholson, Renate, Love, Jennifer M., Lan, Chuan-Ching, Aftimos, Salim, George, Alice M., Love, Donald R.
Vydáno 2012

Microarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients

Autor Mc Cormack, Adrian, Claxton, Karen, Ashton, Fern, Asquith, Philip, Atack, Edward, Mazzaschi, Roberto, Moverley, Paula, O’Connor, Rachel, Qorri, Methat, Sheath, Karen, Love, Donald R., George, Alice M.
Vydáno v Mol Cytogenet (2016)

SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia

Autor Nickerson, Sarah L., Marquis-Nicholson, Renate, Claxton, Karen, Ashton, Fern, Leong, Ivone U. S., Prosser, Debra O., Love, Jennifer M., George, Alice M., Taylor, Graham, Wilson, Callum, McKinlay Gardner, R. J., Love, Donald R.
Vydáno v Microarrays (Basel) (2015)