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Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review

BMC pediatrics, 2022-12, Vol.22 (1), p.745-745, Article 745

2022

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Observations on the Natural History of Camurati‐Engelmann Disease

Journal of bone and mineral research, 2019-05, Vol.34 (5), p.875-882

2019

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Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions

Advances in Bioinformatics, 2016, Vol.2016, p.142-151

2016

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Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder

Journal of inherited metabolic disease, 2016-03, Vol.39 (2), p.305-308

2016

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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

Sultan Qaboos University medical journal, 2019-11, Vol.19 (4), p.324-334

2019

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Massively Parallel Sequencing of Genes Implicated in Heritable Cardiac Disorders: A Strategy for a Small Diagnostic Laboratory

Medical sciences (Basel), 2017-10, Vol.5 (4), p.22

2017

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Diagnostic Screening Workflow for Mutations in the BRCA1 and BRCA2 Genes

Sultan Qaboos University medical journal, 2015, Vol.15 (1), p.58-70

2015

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Genetic testing in Polynesian long QT syndrome probands reveals a lower diagnostic yield and an increased prevalence of rare variants

Heart rhythm, 2020-08, Vol.17 (8), p.1304-1311

2020

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Detection and simultaneous identification of microorganisms from headspace samples using an electronic nose

Sensors and actuators. B, Chemical, 1997-10, Vol.44 (1), p.413-422

1997

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Mitochondrial myopathies and anaesthesia

European journal of anaesthesiology, 2004-03, Vol.21 (3), p.173-178

2004

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Diagnostic Genetics at a Distance: Von Hippel-Lindau Disease and a Novel Mutation

Genetics Research International, 2013-01, Vol.2013 (2013), p.3-7

2013

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Array comparative genomic hybridization identifies a heterozygous deletion of exon 3 of the RYR2 gene

Upsala journal of medical sciences, 2015-08, Vol.120 (3), p.190-197

2015

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Array comparative genomic hybridization identifies a heterozygous deletion of the entire KCNJ2 gene as a cause of sudden cardiac death

Circulation. Cardiovascular genetics, 2014-02, Vol.7 (1), p.17-22

2014

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Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia

Journal of pediatric genetics (Birmingham, Ala.), 2016-09, Vol.5 (3), p.174-180

2016

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Splice Site Variants in the KCNQ1 and SCN5A Genes: Transcript Analysis as a Tool in Supporting Pathogenicity

Journal of clinical medicine research, 2017-08, Vol.9 (8), p.709-718

2017

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Determination of Pathogenicity of Breast Cancer Gene Variants Using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines

Sultan Qaboos University medical journal, 2019-01, Vol.19 (4), p.324-334

2019

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Diagnostic Screening Workflow for Mutations in the BRCA1 and BRCA2 Genes

Sultan Qaboos University medical journal, 2015-02, Vol.15 (1), p.58-70

2015

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A comparison of benchtop high-throughput sequencing platforms in the diagnostic laboratory setting

Pathology, 2016-02, Vol.48, p.S96-S96

2016

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A workflow for the detection and classification of variants in the BRCA1 and BRCA2 genes

Pathology, 2016-02, Vol.48, p.S96-S96

2016

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SNP analysis and whole exome sequencing: Their application in the analysis of a consanguineous pedigree segregating ataxia

Pathology, 2016-02, Vol.48, p.S96-S97

2016

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Assessment of cooked alpaca and llama meats from the statistical analysis of data collected using an ‘electronic nose’

Meat science, 2001-05, Vol.58 (1), p.53-58

2001

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Detection of mite infestation in wheat by electronic nose with transient flow sampling

Journal of the science of food and agriculture, 1999-12, Vol.79 (15), p.2067-2074

1999

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

Microarrays (Basel, Switzerland), 2015-10, Vol.4 (4), p.490-502

2015

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Mitochondrial myopathies and anaesthesia

European journal of anaesthesiology, 2004-03, Vol.21 (3), p.173-178

2004

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Analysis of BRCA gene missense mutations

Journal of biomedical engineering and informatics, 2015-10, Vol.2 (1), p.91

2015

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Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review

Observations on the Natural History of Camurati‐Engelmann Disease

Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions

Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder

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

Massively Parallel Sequencing of Genes Implicated in Heritable Cardiac Disorders: A Strategy for a Small Diagnostic Laboratory

Diagnostic Screening Workflow for Mutations in the BRCA1 and BRCA2 Genes

Genetic testing in Polynesian long QT syndrome probands reveals a lower diagnostic yield and an increased prevalence of rare variants

Detection and simultaneous identification of microorganisms from headspace samples using an electronic nose

Mitochondrial myopathies and anaesthesia

Diagnostic Genetics at a Distance: Von Hippel-Lindau Disease and a Novel Mutation

Array comparative genomic hybridization identifies a heterozygous deletion of exon 3 of the RYR2 gene

Array comparative genomic hybridization identifies a heterozygous deletion of the entire KCNJ2 gene as a cause of sudden cardiac death

Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia

Splice Site Variants in the KCNQ1 and SCN5A Genes: Transcript Analysis as a Tool in Supporting Pathogenicity

Determination of Pathogenicity of Breast Cancer Gene Variants Using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines

Diagnostic Screening Workflow for Mutations in the BRCA1 and BRCA2 Genes

A comparison of benchtop high-throughput sequencing platforms in the diagnostic laboratory setting

A workflow for the detection and classification of variants in the BRCA1 and BRCA2 genes

SNP analysis and whole exome sequencing: Their application in the analysis of a consanguineous pedigree segregating ataxia

Assessment of cooked alpaca and llama meats from the statistical analysis of data collected using an ‘electronic nose’

Detection of mite infestation in wheat by electronic nose with transient flow sampling

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

Mitochondrial myopathies and anaesthesia

Analysis of BRCA gene missense mutations

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