Original Research
Published on 21 Nov 2022
Identification of a novel AIFM1 variant from a Chinese family with auditory neuropathy
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1064823
- 1,656 views
- 2 citations
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1,763 articles
Articles
Original Research
Published on 18 Nov 2022
Identification of susceptibility modules and hub genes of osteoarthritis by WGCNA analysis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1036156
- 6,335 views
- 6 citations
Case Report
Published on 18 Nov 2022
Case Report: Precision genetic diagnosis in a case of Dyggve-Melchior-Clausen syndrome reveals paternal isodisomy and heterodisomy of chromosome 18 with imprinting clinical implications
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1005573
- 2,094 views
- 2 citations
Original Research
Published on 18 Nov 2022
Challenges of genetic diagnosis of inborn errors of metabolism in a major tertiary care center in Lebanon
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1029947
- 3,904 views
- 3 citations
Case Report
Published on 18 Nov 2022
Case report: Mild phenotype of a patient with vascular Ehlers–Danlos syndrome and COL3A1 duplication mutation without alteration in the [Gly-X-Y] repeat sequence
in Genetics of Common and Rare Diseases
![Case report: Mild phenotype of a patient with vascular Ehlers–Danlos syndrome and COL3A1 duplication mutation without alteration in the [Gly-X-Y] repeat sequence](https://www.frontiersin.org/files/myhome article library/1017446/1017446_Thumb_400.jpg)
Frontiers in Genetics
doi 10.3389/fgene.2022.1017446
- 6,603 views
- 1 citation
Original Research
Published on 15 Nov 2022
Comprehensive analyses of the microRNA–messenger RNA–transcription factor regulatory network in mouse and human renal fibrosis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.925097
- 3,147 views
- 2 citations
Case Report
Published on 15 Nov 2022
Case report: Autosomal recessive bestrophinopathy with macular cysts and MNV over 13-year follow-up
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1045145
- 1,318 views
- 1 citation
Case Report
Published on 15 Nov 2022
Case report: An infant boy with X-linked sideroblastic anaemia successfully treated by umbilical cord blood haematopoietic stem cell transplantation
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1009988
- 1,800 views
- 2 citations
Case Report
Published on 14 Nov 2022
Case report: Unilateral panuveitis as a manifestation of Alport syndrome in a Chinese pediatric patient
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.934829
- 1,467 views
Review
Published on 14 Nov 2022
Emerging roles of growth factors in osteonecrosis of the femoral head
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1037190
- 2,965 views
- 7 citations
Case Report
Published on 11 Nov 2022
Case report: Molecular analysis of a 47,XY,+21/46,XX chimera using SNP microarray and review of literature
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.802362
- 4,387 views
- 1 citation
Original Research
Published on 10 Nov 2022
An altered transcriptome underlies cln5-deficiency phenotypes in Dictyostelium discoideum
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1045738
- 2,095 views
- 2 citations
Brief Research Report
Published on 10 Nov 2022
Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.956723
- 2,321 views
- 3 citations
Original Research
Published on 09 Nov 2022
Characterization of pregnancy outcome of women with an offspring with inborn errors of metabolism: A population-based study
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1030361
- 2,270 views
Original Research
Published on 09 Nov 2022
Association between OPG polymorphisms and osteoporosis risk: An updated meta-analysis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1032110
- 1,742 views
- 3 citations
Original Research
Published on 09 Nov 2022
Resolution of otitis media in a humanized mouse model
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.958540
- 1,350 views
- 3 citations