Showing 1 - 20 results of 267 for search '"Auckland City Hospital"', query time: 0.17s Refine Results
  1. 1
    A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities

    A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities by Shalinder Singh, Fern Ashton, Renate Marquis-Nicholson, Jennifer M. Love, Chuan-Ching Lan, Salim Aftimos, Alice M. George, Donald R. Love

    Published 2012-01-01
    Get full text
    Article
  2. 2
    3181 I smell a rat! a case of headache, fevers, and seizures

    3181 I smell a rat! a case of headache, fevers, and seizures by Viswas Dayal, Zofia E Karasinska-Stanley, Tom Southwell, Tom Chang

    Published 2024-08-01
    Article
  3. 3
    Microduplication of 3p26.3 Implicated in Cognitive Development

    Microduplication of 3p26.3 Implicated in Cognitive Development by Leah Te Weehi, Raj Maikoo, Adrian Mc Cormack, Roberto Mazzaschi, Fern Ashton, Liangtao Zhang, Alice M. George, Donald R. Love

    Published 2014-01-01
    Get full text
    Article
  4. 4
    Clinical Outcomes and Counselling Issues regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay

    Clinical Outcomes and Counselling Issues regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay by Karen L. Sheath, Roberto L. Mazzaschi, Salim Aftimos, Nerine E. Gregersen, Alice M. George, Donald R. Love

    Published 2013-05-01
    Get full text
    Article
  5. 5
    Pure Duplication of the Distal Long Arm of Chromosome 15 with Ebstein Anomaly and Clavicular Anomaly

    Pure Duplication of the Distal Long Arm of Chromosome 15 with Ebstein Anomaly and Clavicular Anomaly by Rachel O'Connor, Amel Al-Murrani, Salim Aftimos, Philip Asquith, Roberto Mazzaschi, Dominique Eyrolle-Guignot, Alice M. George, Donald R. Love

    Published 2011-01-01
    Get full text
    Article
  6. 6
    Sporadic Metastatic Malignant Peripheral Nerve Sheath Tumour with an NF1 Mutation Responding to Trametinib: A Case Report

    Sporadic Metastatic Malignant Peripheral Nerve Sheath Tumour with an NF1 Mutation Responding to Trametinib: A Case Report by Nadia Hitchen, Matthew Cross, George Laking, Joanna Connor, Clement Korenbaum

    Published 2023-01-01
    Get full text
    Article
  7. 7
    The role of vacuum assisted excision in diagnosis of papillary lesions without atypia

    The role of vacuum assisted excision in diagnosis of papillary lesions without atypia by B. Siteine, K. Rapson, S. Gerred

    Published 2024-04-01
    Get full text
    Article
  8. 8
    The risk of classical galactosaemia in newborns with borderline galactose metabolites on newborn screening

    The risk of classical galactosaemia in newborns with borderline galactose metabolites on newborn screening by Isaac Bernhardt, Emma Glamuzina, Bryony Ryder, Detlef Knoll, Natasha Heather, Mark De Hora, Dianne Webster, Callum Wilson

    Published 2023-03-01
    Get full text
    Article
  9. 9
    Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay

    Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay by Amel Al-Murrani, Fern Ashton, Salim Aftimos, Alice M. George, Donald R. Love

    Published 2012-01-01
    Get full text
    Article
  10. 10
    An audit of the use of CT pituitary scans to exclude a pituitary macroadenoma

    An audit of the use of CT pituitary scans to exclude a pituitary macroadenoma by Lisa Douglas, James Caldwell, Mark Bolland

    Published 2023-12-01
    “…Our audit at Auckland City Hospital, New Zealand, investigated whether the use of CT of the pituitary as the first line imaging to assess for a pituitary macroadenoma reduces the need for MR. …”
    Get full text
    Article
  11. 11
    Primary intraventricular synovial sarcoma of the brain with recurrence - case presentation

    Primary intraventricular synovial sarcoma of the brain with recurrence - case presentation by Anna McCool, Clinton Turner, Sarah Turner, Peter Heppner, Frank Saran

    Published 2022-12-01
    Get full text
    Article
  12. 12
    A Rare Chromosome 3 Imbalance and Its Clinical Implications

    A Rare Chromosome 3 Imbalance and Its Clinical Implications by Karen Sims, Roberto L. P. Mazzaschi, Emilie Payne, Ian Hayes, Donald R. Love, Alice M. George

    Published 2012-01-01
    Get full text
    Article
  13. 13
    12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region

    12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region by Adrian Mc Cormack, Cynthia Sharpe, Nerine Gregersen, Warwick Smith, Ian Hayes, Alice M. George, Donald R. Love

    Published 2015-01-01
    Get full text
    Article
  14. 14
    A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features

    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
    Get full text
    Article
  15. 15
    Delineation of 2q32q35 Deletion Phenotypes: Two Apparent “Proximal” and “Distal” Syndromes

    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
    Get full text
    Article
  16. 16
    Transplantation and diabetes (Transdiab): a pilot randomised controlled trial of metformin in impaired glucose tolerance after kidney transplantation

    Transplantation and diabetes (Transdiab): a pilot randomised controlled trial of metformin in impaired glucose tolerance after kidney transplantation by Basil Alnasrallah, Tze Liang Goh, Lai Wan Chan, Paul Manley, Helen Pilmore

    Published 2019-04-01
    Get full text
    Article
  17. 17
    Bile Nephropathy in Flucloxacillin-Induced Cholestatic Liver Dysfunction

    Bile Nephropathy in Flucloxacillin-Induced Cholestatic Liver Dysfunction by Basil Alnasrallah, John F. Collins, L. Jonathan Zwi

    Published 2016-01-01
    Get full text
    Article
  18. 18
    Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1

    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
    Get full text
    Article
  19. 19
    Diagnostic Screening Workflow for Mutations in the BRCA1 and BRCA2 Genes

    Diagnostic Screening Workflow for Mutations in the BRCA1 and BRCA2 Genes by Stella Lai, Clare Brookes, Debra O. Prosser, Chuan-Ching Lan, Elaine Doherty, Donald R. Love

    Published 2015-01-01
    Get full text
    Article
  20. 20
    Measurement of 17-Hydroxyprogesterone by LCMSMS Improves Newborn Screening for CAH Due to 21-Hydroxylase Deficiency in New Zealand

    Measurement of 17-Hydroxyprogesterone by LCMSMS Improves Newborn Screening for CAH Due to 21-Hydroxylase Deficiency in New Zealand by Mark R de Hora, Natasha L Heather, Tejal Patel, Lauren G Bresnahan, Dianne Webster, Paul L Hofman

    Published 2020-01-01
    Get full text
    Article

Search Tools: