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
- 3,453 views
- 12 citations
67 articles related to "Genetic Condition"
Articles
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
- 1,943 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
- 2,135 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
- 3,535 views
- 3 citations
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
- 1,498 views
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
- 859 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
- 11,009 views
- 33 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
- 14,491 views
- 42 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
- 4,070 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
- 5,841 views
- 16 citations
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
- 7,501 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
- 4,223 views
- 2 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
- 865 views
Original Research
Published on 30 Sep 2022
CFAP300 mutation causing primary ciliary dyskinesia in Finland
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2022.985227
- 4,762 views
- 13 citations
Review
Published on 04 May 2020
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome
in Pharmacology of Ion Channels and Channelopathies
Frontiers in Pharmacology
doi 10.3389/fphar.2020.00550
- 22,308 views
- 36 citations
Mini Review
Published on 29 Nov 2024
Inflammation and immune response in the development of periodontal disease: a narrative review
in Oral Microbes and Host
Frontiers in Cellular and Infection Microbiology
doi 10.3389/fcimb.2024.1493818
- 7,756 views
- 12 citations