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Publications by Maryem Sahli

Clinical Exome Sequencing Identifies Two Novel Mutations of the SCN1A and SCN2A Genes in Moroccan Patients With Epilepsy: A Case Series

Journal of Medical Case Reports

English

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

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Clinical Exome Sequencing Identifies a Novel TUBB4A Mutation in a Child With Static Hypomyelinating Leukodystrophy

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Exome Sequencing Identifies Recurrent Somatic RAC1 Mutations in Melanoma

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A Case-Control Collapsing Analysis Identifies Epilepsy Genes Implicated in Trio Sequencing Studies Focused on De Novo Mutations

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Whole-Exome Sequencing Identifies Somatic ATRX Mutations in Pheochromocytomas and Paragangliomas

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Phenotype/Genotype Correlation in a Case Series of Stargardt’s Patients Identifies Novel Mutations in the ABCA4 Gene

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Identification of Novel EXT Mutations in Patients With Hereditary Multiple Exostoses Using Whole-Exome Sequencing

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Exome Sequencing to Identify Novel Genes in Hypertension

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Family-Based Whole-Exome Sequencing Identifies Novel Loss-Of-Function Mutations of FBN1 for Marfan Syndrome

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