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  • 1-10 of  105 results for ""Exome Sequencing methods""

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Academic Journal

Whole exome sequencing identifies monogenic forms of nephritis in a previously unsolved cohort of children with steroid-resistant nephrotic syndrome and hematuria

  • Source: Pediatric Nephrology. July, 2022, Vol. 37 Issue 7, p1567, 8 p.

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Academic Journal

Evaluation of Exome Sequencing Criteria for Hospital Stewardship and Insurance Authorization at a Pediatric Hospital

  • Source: Archives of Pathology & Laboratory Medicine. January 2022, Vol. 146 Issue 1, p107, 5 p.

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Academic Journal

Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice.

  • Source: Orphanet Journal of Rare Diseases. July 21, 2023, Vol. 18 Issue 1.

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Academic Journal

Whole exome sequencing reveals novel risk genes of pituitary neuroendocrine tumors

  • Source: PLoS ONE. August 26, 2022, Vol. 17 Issue 8, e0265306

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Academic Journal

Exome sequencing and analysis of 454,787 UK Biobank participants.

  • Source: Nature. November 25, 2021, Vol. 599 Issue 7886, p628, 7 p.

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Academic Journal

Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil

  • Source: PLoS ONE. April 7, 2022, Vol. 17 Issue 4, e0266493

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Academic Journal

Early embryonic lethality in complex I associated p.L104PNubpl mutant mice.

  • Source: Orphanet Journal of Rare Diseases. October 24, 2022, Vol. 17 Issue 1.

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Academic Journal

Performance comparison of Agilent new SureSelect All Exon v8 probes with v7 probes for exome sequencing.

  • Source: BMC Genomics. August 12, 2022, Vol. 23 Issue 1.

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Academic Journal

Identification of the potential molecular mechanism and driving mutations in the pathogenesis of familial intestinal gastric cancer by whole exome sequencing

  • Source: Oncology Reports. October, 2018, Vol. 40 Issue 4, p2316, 9 p.

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Academic Journal

Dilated cardiomyopathy caused by a pathogenic nucleotide variant in RBM20 in an Iranian family.

  • Source: BMC Medical Genomics. May 8, 2022, Vol. 15 Issue 1.

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  • 1-10 of  105 results for ""Exome Sequencing methods""