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  • 1-10 ل  12 نتائج ل ""Genetic Testing/methods""

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Collection : Frontiers (Publisher - Via Crossref)
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Academic Journal

Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases

  • Source: Frontiers in Genetics ; volume 14 ; ISSN 1664-8021

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Academic Journal

Large copy number variants are an important cause of congenital hyperinsulinism that should be screened for during routine testing

  • Source: Frontiers in Endocrinology ; volume 16 ; ISSN 1664-2392

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Academic Journal

Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls

  • Source: Frontiers in Genetics ; volume 14 ; ISSN 1664-8021

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Academic Journal

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study

  • Source: Frontiers in Genetics ; volume 14 ; ISSN 1664-8021

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Academic Journal

Development and internal validation of a novel predictive model for SDHB mutations in pheochromocytomas and retroperitoneal paragangliomas

  • Source: Frontiers in Endocrinology ; volume 14 ; ISSN 1664-2392

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Academic Journal

Identification of rare thalassemia variants using third-generation sequencing

  • Source: Frontiers in Genetics ; volume 13 ; ISSN 1664-8021

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Academic Journal

Epilepsy phenotype and gene ontology analysis of the 129 genes in a large neurodevelopmental disorders cohort

  • Source: Frontiers in Neurology ; volume 14 ; ISSN 1664-2295

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Academic Journal

Using an Improved Residual Network to Identify PIK3CA Mutation Status in Breast Cancer on Ultrasound Image

  • Source: Frontiers in Oncology ; volume 12 ; ISSN 2234-943X

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Academic Journal

The second-tier status of fragile X syndrome testing for unexplained intellectual disability/global developmental delay in the era of next-generation sequencing

  • Source: Frontiers in Pediatrics ; volume 10 ; ISSN 2296-2360

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Academic Journal

Case Report: Whole-Exome Sequencing With MLPA Revealed Variants in Two Genes in a Patient With Combined Manifestations of Spinal Muscular Atrophy and Duchenne Muscular Dystrophy

  • Source: Frontiers in Genetics ; volume 12 ; ISSN 1664-8021

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  • 1-10 ل  12 نتائج ل ""Genetic Testing/methods""