Review
Published on 29 Mar 2022
Hypoglycaemia Metabolic Gene Panel Testing
in Pediatric Endocrinology
Frontiers in Endocrinology
doi 10.3389/fendo.2022.826167
- 11,599 views
- 5 citations
13 articles related to "Gene Panel Testing"
Articles
Original Research
Published on 13 Sep 2019
Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life
in Epilepsy
Frontiers in Neurology
doi 10.3389/fneur.2019.00988
- 7,657 views
- 38 citations
Case Report
Published on 21 Mar 2023
A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: A case report
in Cancer Genetics
Frontiers in Oncology
doi 10.3389/fonc.2023.1102184
- 3,584 views
- 3 citations
Original Research
Published on 30 Jun 2020
Reanalysis of Genomic Sequencing Results in a Clinical Laboratory: Advantages and Limitations
in Pediatric Neurology
Frontiers in Neurology
doi 10.3389/fneur.2020.00612
- 6,113 views
- 16 citations
Original Research
Published on 22 Aug 2022
Prospective study of pediatric patients presenting with idiopathic infantile nystagmus—Management and molecular diagnostics
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.977806
- 4,811 views
- 9 citations
Case Report
Published on 22 Oct 2019
A Pediatric Case of Glioblastoma Multiforme Associated With a Novel Germline p.His112CysfsTer9 Mutation in the MLH1 Gene Accompanied by a p.Arg283Cys Mutation in the TP53 Gene: A Case Report
in Cancer Genetics
Frontiers in Genetics
doi 10.3389/fgene.2019.00952
- 4,784 views
- 4 citations
Original Research
Published on 18 Feb 2025
Large copy number variants are an important cause of congenital hyperinsulinism that should be screened for during routine testing
in Pediatric Endocrinology
Frontiers in Endocrinology
doi 10.3389/fendo.2025.1514916
- 2,836 views
- 1 citation
Case Report
Published on 23 Nov 2023
Case report and literature review: exploration of molecular therapeutic targets in recurrent malignant meningioma through comprehensive genetic analysis with Todai OncoPanel
in Neuro-Oncology and Neurosurgical Oncology
Frontiers in Neurology
doi 10.3389/fneur.2023.1270046
- 2,929 views
Original Research
Published on 22 Sep 2023
Next-generation sequencing improves precision medicine in hearing loss
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2023.1264899
- 6,549 views
- 7 citations
Original Research
Published on 30 Aug 2019
Endocrine Disorders Are Prominent Clinical Features in Patients With Primary Antibody Deficiencies
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2019.02079
- 12,192 views
- 15 citations
Original Research
Published on 24 Mar 2023
Monogenic diabetes in New Zealand - An audit based revision of the monogenic diabetes genetic testing pathway in New Zealand
in Clinical Diabetes
Frontiers in Endocrinology
doi 10.3389/fendo.2023.1116880
- 5,144 views
- 6 citations
Original Research
Published on 25 Mar 2022
Rates of Variants of Uncertain Significance Among Patients With Breast Cancer Undergoing Genetic Testing: Regional Perspectives
in Breast Cancer
Frontiers in Oncology
doi 10.3389/fonc.2022.673094
- 8,744 views
- 14 citations
Original Research
Published on 29 Jan 2026
Identification of maturity-onset diabetes of the young through targeted next-generation sequencing in Thai patients with atypical diabetes in real-world practice
in Diabetes: Molecular Mechanisms
Frontiers in Endocrinology
doi 10.3389/fendo.2026.1717121
- 485 views