Original Research
Published on 04 Aug 2022
A Frameshift RBM10 Variant Associated With TARP Syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.922048
- 3,701 views
- 12 citations
68 articles related to "Genetic Condition"
Articles
Case Report
Published on 07 Jun 2021
1p36 Deletion Syndrome and Left Ventricular Non-compaction Cardiomyopathy—Two Cases Report
in Pediatric Cardiology
Frontiers in Pediatrics
doi 10.3389/fped.2021.653633
- 7,605 views
- 3 citations
Brief Research Report
Published on 14 Dec 2021
Difficulties of Prenatal Genetic Counseling for a Subsequent Child in a Family With Multiple Genetic Variations
in Genomic Medicine
Frontiers in Genetics
doi 10.3389/fgene.2021.612100
- 4,501 views
- 2 citations
Case Report
Published on 22 Aug 2023
Case report: Enamel renal syndrome: a case series from sub-Saharan Africa
in Oral Epidemiology
Frontiers in Oral Health
doi 10.3389/froh.2023.1228760
- 4,542 views
- 4 citations
Review
Published on 26 Sep 2022
Landscape of germline cancer predisposition mutations testing and management in pediatrics: Implications for research and clinical care
in Children and Health
Frontiers in Pediatrics
doi 10.3389/fped.2022.1011873
- 6,159 views
- 16 citations
Original Research
Published on 04 Feb 2026
Analyzing the genetic profile of autistic children and adolescents with minimal verbal abilities
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2026.1647481
- 1,170 views
Case Report
Published on 21 Dec 2023
A founder COL4A3 pathogenic variant resulting in Alport syndrome and thin basement membrane disease: a case report series
in Nephrology
Frontiers in Medicine
doi 10.3389/fmed.2023.1281049
- 3,869 views
- 3 citations
Original Research
Published on 06 Nov 2024
Characterization of the craniofacial abnormalities of the homozygous G608G progeria mouse model
in Skeletal Physiology
Frontiers in Physiology
doi 10.3389/fphys.2024.1481985
- 2,064 views
Case Report
Published on 26 May 2025
Case Report: A neurodevelopmental disorder with global developmental delay, microcephaly, eye anomalies, sweat dysregulation, and skeletal implications due to an ultra-rare de novo 5q14.3q15 copy number gain
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2025.1549685
- 2,389 views
- 1 citation
Case Report
Published on 14 Jan 2026
Lung adenocarcinoma and colorectal cancer as double primary malignancies reveal lynch syndrome: a case report of germline MLH1 mutation with response to immunotherapy and familial aggregation
in Cancer Immunity and Immunotherapy
Frontiers in Immunology
doi 10.3389/fimmu.2025.1709036
- 1,162 views
Case Report
Published on 28 Oct 2025
Case Report: α1-antitrypsin deficiency causing persistent pleural effusion and multilobar alveolar emphysema in a young dog
in Veterinary Clinical, Anatomical, and Comparative Pathology
Frontiers in Veterinary Science
doi 10.3389/fvets.2025.1678702
- 1,681 views
Review
Published on 30 Oct 2018
The Pathogenesis and Therapies of Striated Muscle Laminopathies
in Striated Muscle Physiology
Frontiers in Physiology
doi 10.3389/fphys.2018.01533
- 11,303 views
- 34 citations
Review
Published on 13 Oct 2015
Dissecting Alzheimer disease in Down syndrome using mouse models
in Pathological Conditions
Frontiers in Behavioral Neuroscience
doi 10.3389/fnbeh.2015.00268
- 14,762 views
- 42 citations
Systematic Review
Published on 06 Dec 2024
Paroxysmal extreme pain disorder associated with a mutation in SCN9A gene – Case report and own experiences
in Pediatric Neurology
Frontiers in Neurology
doi 10.3389/fneur.2024.1477982
- 4,788 views
- 2 citations
Original Research
Published on 24 Apr 2023
A novel compound heterozygous mutation of the CLCN7 gene is associated with autosomal recessive osteopetrosis
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.978879
- 4,579 views
- 4 citations
Case Report
Published on 19 Dec 2025
Case Report: A case of Culler-Jones syndrome caused by GLI2 gene mutation
in Neonatology
Frontiers in Pediatrics
doi 10.3389/fped.2025.1699082
- 1,525 views