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Publications by L. A. Mansour

Exome Sequencing Can Improve Diagnosis and Alter Patient Management

Science Translational Medicine

English

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Whole Exome Sequencing for Prenatal Diagnosis in Cases With Fetal Anomalies: Criteria to Improve Diagnostic Yield

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Whole-Exome Sequencing of Archival Tissue Can Guide Personalized Medicine

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Molecular Diagnosis in Mitochondrial Complex I Deficiency Using Exome Sequencing

Journal of Medical Genetics

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Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders

Multidisciplinary

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

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

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

Ultrasound in Obstetrics and Gynecology

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Exome Sequencing Can Detect Pathogenic Mosaic Mutations Present at Low Allele Frequencies

Journal of Human Genetics

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Somatic Mutations Identified at Diagnosis by Exome Sequencing Can Predict Response to Imatinib in Chronic Phase Chronic Myeloid Leukemia Patients

American Journal of Hematology

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