Showing 1 - 20 results of 23 for search 'GENETICS LAB', query time: 0.75s Refine Results
  1. 1
    Determination of Pathogenicity of Breast Cancer 1 Gene Variants using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines
    “...: This bioinformatic study was conducted at LabPLUS, Auckland, New Zealand, from February to June 2017. DNA...”
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    Article
  2. 2
    Predicting the Pathogenic Potential of BRCA1 and BRCA2 Gene Variants Identified in Clinical Genetic Testing
    “... was undertaken of 13 missense BRCA gene variants that had been detected in patients referred to the Genetic...”
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    Article
  3. 3
    Predicting the Pathogenic Potential of BRCA1 and BRCA2 Gene Variants Identified in Clinical Genetic Testing
    “... was undertaken of 13 missense BRCA gene variants that had been detected in patients referred to the Genetic...”
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    Article
  4. 4
    Application of Massively Parallel Sequencing in the Clinical Diagnostic Testing of Inherited Cardiac Conditions
    Subjects: “...genetic screening...”
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    Article
  5. 5
    Microduplication of 3p26.3 Implicated in Cognitive Development
    “...Case Reports in Genetics...”
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    Article
  6. 6
    Pure Duplication of the Distal Long Arm of Chromosome 15 with Ebstein Anomaly and Clavicular Anomaly
    “...Case Reports in Genetics...”
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    Article
  7. 7
    Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay
    “...Case Reports in Genetics...”
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    Article
  8. 8
    A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features
    “...Case Reports in Genetics...”
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    Article
  9. 9
    12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region
    “...Case Reports in Genetics...”
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    Article
  10. 10
    Inheritance of a Ring Chromosome 21 in a Couple Undergoing In Vitro Fertilization (IVF): A Case Report
    “...Case Reports in Genetics...”
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    Article
  11. 11
    Delineation of 2q32q35 Deletion Phenotypes: Two Apparent “Proximal” and “Distal” Syndromes
    “...Case Reports in Genetics...”
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    Article
  12. 12
    A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker
    “...Case Reports in Genetics...”
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    Article
  13. 13
    Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1
    “...Case Reports in Genetics...”
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    Article
  14. 14
    SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia
    “... of Charlevoix-Saguenay (ARSACS). Our findings expand both the genetic and phenotypic spectrum of this rare...”
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    Article
  15. 15
    A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities
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    Article
  16. 16
    Diagnostic Screening Workflow for Mutations in the BRCA1 and BRCA2 Genes
    “... of 20 patients were included in the study who had been referred to Genetic Health Services New Zealand...”
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    Article
  17. 17
    Array-based Identification of Copy Number Changes in a Diagnostic Setting : Simultaneous gene-focused and low resolution whole human genome analysis
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    Article
  18. 18
    Clinical Outcomes and Counselling Issues regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay
    “...Female carriers of balanced translocations involving an X chromosome and an autosome offer genetic...”
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    Article
  19. 19
    Diagnostic Screening Workflow for Mutations in the BRCA1 and BRCA2 Genes
    “... of 20 patients were included in the study who had been referred to Genetic Health Services New Zealand...”
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    Article
  20. 20
    A Rare Chromosome 3 Imbalance and Its Clinical Implications
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    Article
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