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Publications by Simon Zwolinski

Late-Onset Sacsinopathy Diagnosed by Exome Sequencing and Comparative Genomic Hybridization

Journal of Neurogenetics

Molecular Neuroscience

English

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Carbamoyl Phosphate Synthetase 1 Deficiency Diagnosed by Whole Exome Sequencing

Journal of Clinical Laboratory Analysis

Medical Laboratory Technology

Clinical Biochemistry

Occupational Health

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Peroxisomal D-Bifunctional Protein Deficiency: Three Adults Diagnosed by Whole-Exome Sequencing

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Exome Sequencing in a Consanguineous Family Clinically Diagnosed With Early-Onset Alzheimer's Disease Identifies a Homozygous CTSF Mutation

Neurobiology of Aging

Developmental Biology

English

Comparative Genomic Hybridization: Microarray Design and Data Interpretation

Methods in Molecular Biology

Molecular Biology

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An Atypical Case of Noonan Syndrome With KRAS Mutation Diagnosed by Targeted Exome Sequencing

Annals of Pediatric Endocrinology and Metabolism

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Clinical Cancer Genomic Profiling by Three-Platform Sequencing of Whole Genome, Whole Exome and Transcriptome

Nature Communications

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The Genomic Mutation Spectrums of Breast Fibroadenomas in Chinese Population by Whole Exome Sequencing Analysis

Cancer Medicine

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Comparative Study on Early Onset and Late Onset Alcohol Dependence Patients

Journal of Evolution of Medical and Dental Sciences

English

Whole Exome Sequencing in Childhood-Onset Lupus Frequently Detects Single Gene Etiologies

Pediatric Rheumatology

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