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Publications by Isabela C. C. Cardoso

Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders

Multidisciplinary

English

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Molecular Diagnosis in Mitochondrial Complex I Deficiency Using Exome Sequencing

Journal of Medical Genetics

English

Exome Sequencing Identifies Molecular Diagnosis in Children With Drug-Resistant Epilepsy

English

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

Exome Sequencing for Molecular Characterization of Non-Hfe Hereditary Hemochromatosis

Blood Cells, Molecules, and Diseases

Molecular Medicine

Molecular Biology

English

Non-Invasive Prenatal Diagnosis of Lethal Skeletal Dysplasia by Targeted Capture Sequencing of Maternal Plasma

Multidisciplinary

English

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

English

Exome Sequencing Can Improve Diagnosis and Alter Patient Management

Science Translational Medicine

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Genetic Diagnosis of Two Dopa-Responsive Dystonia Families by Exome Sequencing

Multidisciplinary

English

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

Zhurnal Nevrologii i Psikhiatrii imeni S.S. Korsakova

English