Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.

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Successful Adaptation of Targeted Gene Panel Next-Generation Sequencing in Regional Hospital in Hong Kong: Genomic Diagnosis of -Related Seizure Disorder

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Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.

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2018 nî lūn-bûn

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2018年学术文章

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Whole exome sequencing in neur ...... me-saving diagnostic approach.

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Whole exome sequencing in neur ...... me-saving diagnostic approach.

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Whole exome sequencing in neur ...... me-saving diagnostic approach.

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Whole exome sequencing in neur ...... me-saving diagnostic approach.

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Whole exome sequencing in neur ...... me-saving diagnostic approach.

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Whole exome sequencing in neur ...... me-saving diagnostic approach.

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Cecilia Vásquez-Dusefante

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Dolores González-Morón

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Hernán Amartino

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Josefina Perez-Maturo

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Marcelo Andrés Kauffman

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Marta Córdoba

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Nancy Medina

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Patricia Analía Vega

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Sergio Alejandro Rodriguez-Quiroga

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Valeria Salinas

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P2860

A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.

Amplification-free library preparation for paired-end Illumina sequencing.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

Molecular findings among patients referred for clinical whole-exome sequencing.

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

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e0191228

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scholarly article

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10.1371/JOURNAL.PONE.0191228

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English

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2018-02-01T00:00:00Z

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29389947

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Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.

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Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.

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