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Publications by Saskia van den Berg

Genetic Counseling in Direct-To-Consumer Exome Sequencing: A Case Report

Journal of Genetic Counseling

English

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Direct-To-Consumer Genetic Testing

British Medical Journal

English

Direct-To-Consumer Genetic Testing

Journal of Molecular Diagnostics

Forensic Medicine

Molecular Medicine

English

Whole Exome Sequencing for Prenatal Diagnosis of CHARGE Syndrome: A Case Report

English

Case Report: Exome Sequencing Reveals LRBA Deficiency in a Patient With End-Stage Renal Disease

Frontiers in Pediatrics

English

Fundoscopy-Directed Genetic Testing to Re-Evaluate Negative Whole Exome Sequencing Results

Orphanet Journal of Rare Diseases

English

Trio Clinical Exome Sequencing in a Patient With Multicentric Carpotarsal Osteolysis Syndrome: First Case Report in the Balkans

Frontiers in Genetics

Molecular Medicine

English

Preliminary Evaluation of Exome Sequencing to Identify Genetic Markers of Susceptibility to Tuberculosis Disease

BMC Research Notes

Molecular Biology

English

Exome Sequencing of Case-Unaffected-Parents Trios Reveals Recessive and De Novo Genetic Variants in Sporadic ALS

Scientific Reports

Multidisciplinary

English

Whole Exome Sequencing in a Child With Acute Disseminated Encephalomyelitis, Optic Neuritis, and Periodic Fever Syndrome: A Case Report

Journal of Medical Case Reports

English