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Publications by Hanne Sørmo Sorte

Diagnosis by Sequencing: Correction of Misdiagnosis From FSHD2 to LGMD2A by Whole-Exome Analysis

European Journal of Human Genetics

English

cnvScan: A CNV Screening and Annotation Tool to Improve the Clinical Utility of Computational CNV Prediction From Exome Sequencing Data

English

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OC20.02: Prenatal Diagnosis by Chromosome Microarray Analysis and Whole-Exome Sequencing for Fetuses With Skeletal Dysplasia

Ultrasound in Obstetrics and Gynecology

Nuclear Medicine

Ultrasound Technology

Reproductive Medicine

English

Correction To: Incidental Diagnosis of Tuberous Sclerosis Complex by Exome Sequencing in Three Families With Subclinical Findings

Molecular Neuroscience

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

Cancer Medicine

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Whole-Genome Sequencing Is More Powerful Than Whole-Exome Sequencing for Detecting Exome Variants

Proceedings of the National Academy of Sciences of the United States of America

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P05.10: Using Whole-Exome Sequencing in Prenatal Diagnosis of Severe Fetal Abnormalities

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Application of Whole Exome Sequencing in the Diagnosis of Hereditary Neurological Diseases

Zhurnal Nevrologii i Psikhiatrii imeni S.S. Korsakova

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Clinical Application of Whole-Exome Sequencing

English

Using Whole-Exome Sequencing to Identify Variants Inherited From Mosaic Parents

European Journal of Human Genetics

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