Original Research
Published on 10 Nov 2022
Expanding the molecular spectrum of tenosynovial giant cell tumors
in Molecular and Cellular Oncology
Frontiers in Oncology
doi 10.3389/fonc.2022.1012527
- 4,644 views
- 17 citations
25 articles related to "Molecular Spectrum"
Articles
Brief Research Report
Published on 17 Jan 2025
Updates on the molecular spectrum of MEFV variants in lebanese patients with Familial Mediterranean Fever
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1506656
- 4,100 views
- 8 citations
Case Report
Published on 23 Jun 2022
Case Report: A Novel Splice-Site Mutation in DNAJB6 Associated With Juvenile-Onset Proximal–Distal Myopathy in a Chinese Patient
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.925926
- 2,685 views
- 2 citations
Original Research
Published on 07 May 2019
Clinical and Molecular Spectrum of Glucose-6-Phosphate Isomerase Deficiency. Report of 12 New Cases
in Red Blood Cell Physiology
Frontiers in Physiology
doi 10.3389/fphys.2019.00467
- 12,522 views
- 34 citations
Original Research
Published on 29 Jul 2020
Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients
in Neuromuscular Disorders and Peripheral Neuropathies
Frontiers in Neurology
doi 10.3389/fneur.2020.00646
- 10,000 views
- 12 citations
Original Research
Published on 08 Dec 2022
The different clinical facets of SYN1-related neurodevelopmental disorders
in Molecular and Cellular Pathology
Frontiers in Cell and Developmental Biology
doi 10.3389/fcell.2022.1019715
- 11,977 views
- 28 citations
Case Report
Published on 06 Sep 2022
Case Report: Submucosal gastroblastoma with a novel PTCH1::GLI2 gene fusion in a 58-year-old man
in Gastrointestinal Cancers: Gastric and Esophageal Cancers
Frontiers in Oncology
doi 10.3389/fonc.2022.935914
- 3,064 views
- 16 citations
Case Report
Published on 20 Dec 2019
Congenital Vocal Cord Paralysis and Late-Onset Limb-Girdle Weakness in MuSK–Congenital Myasthenic Syndrome
in Neuromuscular Disorders and Peripheral Neuropathies
Frontiers in Neurology
doi 10.3389/fneur.2019.01300
- 4,686 views
- 17 citations
Case Report
Published on 03 Mar 2023
Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1059658
- 2,983 views
- 4 citations
Case Report
Published on 19 Dec 2025
Case Report: Expansion of the POLD1-related polymerase proofreading-associated polyposis spectrum: first report of duodenal adenocarcinomas and characterization of two likely pathogenic variants
in Cancer Genetics
Frontiers in Oncology
doi 10.3389/fonc.2025.1727289
- 1,004 views
Original Research
Published on 11 Dec 2024
Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome’s clinical and molecular spectrum through NALCN in-silico structural analysis
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2024.1477940
- 3,717 views
- 2 citations
Original Research
Published on 04 Nov 2025
Variation spectra in mild isolated hyperthyrotropinemia: pilot cohort and systematic review
in Thyroid Endocrinology
Frontiers in Endocrinology
doi 10.3389/fendo.2025.1612450
- 1,563 views
Original Research
Published on 07 Nov 2024
A particular focus on the prevalence of α-thalassemia and β-thalassemia among pregnant women in Changsha County, Hunan Province
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1422462
- 3,012 views
Original Research
Published on 06 Dec 2023
Ultra-high static magnetic field induces a change in the spectrum but not frequency of DNA spontaneous mutations in Arabidopsis thaliana
in Sustainable and Intelligent Phytoprotection
Frontiers in Plant Science
doi 10.3389/fpls.2023.1305069
- 3,473 views
- 3 citations
Brief Research Report
Published on 04 Jan 2024
Exploiting in silico structural analysis to introduce emerging genotype–phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1307934
- 3,795 views
- 9 citations
Original Research
Published on 26 Mar 2021
Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2021.646058
- 9,338 views
- 12 citations