This report illustrates the difficulties in diagnosing complex cases and demonstrates how whole exome sequencing can resolve complex phenotypes
Over the past several years whole exome sequencing (WES) by high-throughput sequencing of target-enr...
BACKGROUND: Advances in molecular genetic technologies have improved our understanding of genetic ca...
BACKGROUND: Advances in molecular genetic technologies have improved our understanding of genetic ca...
Epilepsy affects approximately 1% of the world\u27s population. Genetic factors and acquired etiolog...
We report on the rare case of a male toddler presenting with myoclonic epilepsy characterized by dai...
Progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically heterogeneous...
PURPOSE: The management of epilepsy in children is particularly challenging when seizures are resist...
Background and Objectives To assess the current diagnostic yield of genetic testing for the progress...
Background and Objectives To assess the current diagnostic yield of genetic testing for the progress...
Objective: We aimed to describe the extent of neurodevelopmental impairments andidentify the genetic...
Objective: We aimed to describe the extent of neurodevelopmental impairments andidentify the genetic...
BACKGROUND: Advances in molecular genetic technologies have improved our understanding of genetic ca...
Progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically heterogeneous...
Objective We aimed to describe the extent of neurodevelopmental impairments and identify the genetic...
Over the past several years whole exome sequencing (WES) by high-throughput sequencing of target-enr...
Over the past several years whole exome sequencing (WES) by high-throughput sequencing of target-enr...
BACKGROUND: Advances in molecular genetic technologies have improved our understanding of genetic ca...
BACKGROUND: Advances in molecular genetic technologies have improved our understanding of genetic ca...
Epilepsy affects approximately 1% of the world\u27s population. Genetic factors and acquired etiolog...
We report on the rare case of a male toddler presenting with myoclonic epilepsy characterized by dai...
Progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically heterogeneous...
PURPOSE: The management of epilepsy in children is particularly challenging when seizures are resist...
Background and Objectives To assess the current diagnostic yield of genetic testing for the progress...
Background and Objectives To assess the current diagnostic yield of genetic testing for the progress...
Objective: We aimed to describe the extent of neurodevelopmental impairments andidentify the genetic...
Objective: We aimed to describe the extent of neurodevelopmental impairments andidentify the genetic...
BACKGROUND: Advances in molecular genetic technologies have improved our understanding of genetic ca...
Progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically heterogeneous...
Objective We aimed to describe the extent of neurodevelopmental impairments and identify the genetic...
Over the past several years whole exome sequencing (WES) by high-throughput sequencing of target-enr...
Over the past several years whole exome sequencing (WES) by high-throughput sequencing of target-enr...
BACKGROUND: Advances in molecular genetic technologies have improved our understanding of genetic ca...
BACKGROUND: Advances in molecular genetic technologies have improved our understanding of genetic ca...
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