Original Research
Published on 22 Oct 2018
Genetic Testing for Steroid-Resistant-Nephrotic Syndrome in an Outbred Population
in Pediatric Nephrology
Frontiers in Pediatrics
doi 10.3389/fped.2018.00307
- 12,891 views
- 25 citations
47 articles related to "Causative Mutations"
Articles
Original Research
Published on 12 Jan 2022
The Application of Whole−Exome Sequencing in Patients With FUO
in Clinical and Diagnostic Microbiology and Immunology
Frontiers in Cellular and Infection Microbiology
doi 10.3389/fcimb.2021.783568
- 7,189 views
- 6 citations
Perspective
Published on 08 Jun 2021
Exploiting hiPSCs in Leber's Hereditary Optic Neuropathy (LHON): Present Achievements and Future Perspectives
in Neuro-Ophthalmology
Frontiers in Neurology
doi 10.3389/fneur.2021.648916
- 6,397 views
- 11 citations
Mini Review
Published on 28 Sep 2021
Dystrophic Epidermolysis Bullosa: Secondary Disease Mechanisms and Disease Modifiers
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2021.737272
- 12,703 views
- 43 citations
Case Report
Published on 26 Nov 2021
Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?
in Neonatology
Frontiers in Pediatrics
doi 10.3389/fped.2021.772800
- 5,847 views
- 11 citations
Review
Published on 17 Apr 2014
Worming forward: amyotrophic lateral sclerosis toxicity mechanisms and genetic interactions in Caenorhabditis elegans
in Genetics of Aging
Frontiers in Genetics
doi 10.3389/fgene.2014.00085
- 17,121 views
- 54 citations
Original Research
Published on 16 Apr 2021
ATP-Dependent Clp Protease Subunit C1, HvClpC1, Is a Strong Candidate Gene for Barley Variegation Mutant luteostrians as Revealed by Genetic Mapping and Genomic Re-sequencing
in Technical Advances in Plant Science
Frontiers in Plant Science
doi 10.3389/fpls.2021.664085
- 5,090 views
- 3 citations
Mini Review
Published on 27 Feb 2019
Enigmatic Ladies of the Rings: How Cohesin Dysfunction Affects Myeloid Neoplasms Insurgence
in Epigenomics and Epigenetics
Frontiers in Cell and Developmental Biology
doi 10.3389/fcell.2019.00021
- 5,620 views
Case Report
Published on 01 Jul 2021
Case Report: m.13513 G>A Mutation in a Chinese Patient With Both Leigh Syndrome and Wolff-Parkinson-White Syndrome
in Pediatric Neurology
Frontiers in Pediatrics
doi 10.3389/fped.2021.700898
- 3,169 views
- 5 citations
Original Research
Published on 25 Jan 2019
Identification of Alzheimer's Disease-Related Genes Based on Data Integration Method
in Neurogenomics
Frontiers in Genetics
doi 10.3389/fgene.2018.00703
- 10,404 views
- 39 citations
Case Report
Published on 12 Jul 2017
T Cell Lymphoma and Leukemia in Severe Combined Immunodeficiency Pigs following Bone Marrow Transplantation: A Case Report
in Cancer Immunity and Immunotherapy
Frontiers in Immunology
doi 10.3389/fimmu.2017.00813
- 5,727 views
- 17 citations
Review
Published on 07 Mar 2022
Dysregulation of Translation in TDP-43 Proteinopathies: Deficits in the RNA Supply Chain and Local Protein Production
in Neurodegeneration
Frontiers in Neuroscience
doi 10.3389/fnins.2022.840357
- 9,371 views
- 33 citations
Mini Review
Published on 06 Mar 2015
Compensatory mechanisms in genetic models of neurodegeneration: are the mice better than humans?
in Cellular Neuropathology
Frontiers in Cellular Neuroscience
doi 10.3389/fncel.2015.00056
- 8,650 views
- 39 citations
Original Research
Published on 14 Nov 2018
Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance
in Neurogenomics
Frontiers in Neurology
doi 10.3389/fneur.2018.00953
- 4,198 views
- 28 citations
Original Research
Published on 27 Jul 2022
Identification of BAG5 as a Potential Biomarker for Parkinson’s Disease Patients With R492X PINK1 Mutation
in Neuropharmacology
Frontiers in Neuroscience
doi 10.3389/fnins.2022.903958
- 3,194 views
- 2 citations
Original Research
Published on 20 Jan 2021
Characteristics of Genetic Variations Associated With Lennox-Gastaut Syndrome in Korean Families
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.590924
- 12,264 views
- 9 citations