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

Por Duffy, Lisa, Zhang, Liangtao, Sheath, Karen, Love, Donald R., George, Alice M.
Publicado no J Clin Med Res (2015)

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

Por Al-Murrani, Amel, Ashton, Fern, Aftimos, Salim, George, Alice M., Love, Donald R.
Publicado em 2012

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

Por Mc Cormack, Adrian, Taylor, Juliet, Gregersen, Nerine, George, Alice M., Love, Donald R.
Publicado em 2013

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

Por Mazzaschi, Roberto L., Ashton, Fern, Aftimos, Salim, George, Alice M., Love, Donald R.
Publicado em 2013

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

Por Mc Cormack, Adrian, Taylor, Juliet, Te Weehi, Leah, Love, Donald R., George, Alice M.
Publicado em 2014

A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker

Por Mazzaschi, Roberto L. P., Taylor, Juliet, Robertson, Stephen P., Love, Donald R., George, Alice M.
Publicado em 2014

A Rare Chromosome 3 Imbalance and Its Clinical Implications

Por Sims, Karen, Mazzaschi, Roberto L. P., Payne, Emilie, Hayes, Ian, Love, Donald R., George, Alice M.
Publicado em 2012

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

Por Sheath, Karen L., Mazzaschi, Roberto L., Aftimos, Salim, Gregersen, Nerine E., George, Alice M., Love, Donald R.
Publicado em 2013

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

Por Mc Cormack, Adrian, Sharpe, Cynthia, Gregersen, Nerine, Smith, Warwick, Hayes, Ian, George, Alice M., Love, Donald R.
Publicado no 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

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

Microduplication of 3p26.3 Implicated in Cognitive Development

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

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

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

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

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

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

Por 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.
Publicado no Mol Cytogenet (2016)

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

Por 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.
Publicado no Microarrays (Basel) (2015)