Case Report
Published on 10 Jan 2023
Case report: Infantile generalized pustular psoriasis with IL36RN and CARD14 gene mutations
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1035037
- 3,070 views
- 3 citations
Type at least 3 characters
1,762 articles
Articles
Original Research
Published on 10 Jan 2023
Uncovering the molecular mechanisms between heart failure and end-stage renal disease via a bioinformatics study
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1037520
- 3,458 views
- 1 citation
Case Report
Published on 10 Jan 2023
A complex heterozygous mutation in PADI6 causes early embryo arrest: A case report
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1104085
- 2,060 views
- 4 citations
Review
Published on 09 Jan 2023
Regulation of autophagy, lipid metabolism, and neurodegenerative pathology by heparan sulfate proteoglycans
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1012706
- 3,328 views
- 9 citations
Case Report
Published on 09 Jan 2023
Case report: Osteo-oto-hepato-enteric syndrome caused by UNC45A deficiency
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1079481
- 2,388 views
- 2 citations
Original Research
Published on 09 Jan 2023
Identification of COL4A4 variants in Chinese patients with familial hematuria
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1064491
- 2,236 views
Brief Research Report
Published on 09 Jan 2023
Novel candidate genes for cholesteatoma in chronic otitis media
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1033965
- 1,735 views
- 2 citations
Original Research
Published on 09 Jan 2023
A novel frameshift mutation in TRPV6 is associated with hereditary pancreatitis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1058057
- 2,726 views
- 2 citations
Case Report
Published on 09 Jan 2023
Case report: 7p22.3 deletion and 8q24.3 duplication in a patient with epilepsy and psychomotor delay—Does both possibly act to modulate a candidate gene region for the patient’s phenotype?
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1061539
- 2,074 views
- 1 citation
Brief Research Report
Published on 09 Jan 2023
Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1018062
- 2,687 views
- 1 citation
Original Research
Published on 06 Jan 2023
Identification of two rare NPRL3 variants in two Chinese families with familial focal epilepsy with variable foci 3: NGS analysis with literature review
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1054567
- 2,256 views
- 5 citations
Case Report
Published on 06 Jan 2023
Case report: LAMC3-associated cortical malformations: Case report of a novel stop-gain variant and literature review
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.990350
- 2,825 views
- 3 citations
Original Research
Published on 06 Jan 2023
A potential three-gene-based diagnostic signature for idiopathic pulmonary fibrosis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.985217
- 2,963 views
- 2 citations
Original Research
Published on 06 Jan 2023
Transcriptomic analysis of the upper lip and primary palate development in mice
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1039850
- 2,851 views
- 3 citations
Original Research
Published on 06 Jan 2023
Positive regulation of innate immune response by miRNA-let-7a-5p
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1025539
- 3,476 views
- 11 citations
Original Research
Published on 06 Jan 2023
Diagnostic application of exome sequencing in Chinese children with suspected inherited kidney diseases
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.933636
- 1,908 views
- 4 citations