Brief Research Report
Published on 29 Jun 2023
Mitochondrial depletion syndrome type 3: the Lebanese variant
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1215083
- 3,664 views
- 4 citations
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1,477 articles
Original Research
Published on 29 Jun 2023
A chromosomal microarray analysis-based laboratory algorithm for the detection of genetic etiology of early pregnancy loss
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1203891
- 3,710 views
- 5 citations
Original Research
Published on 29 Jun 2023
A novel PKHD1 splicing variant identified in a fetus with autosomal recessive polycystic kidney disease
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1207772
- 3,664 views
- 4 citations
Case Report
Published on 27 Jun 2023
Parental gonadossomatic mosaicism in HIVEP2-related intellectual disability and impact on genetic counseling–case report
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1156847
- 3,716 views
Case Report
Published on 26 Jun 2023
Case report: Chorea and cognitive decline in a young woman: instrumental and genetic assessment of a case originally diagnosed as multiple sclerosis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1129289
- 2,791 views
Case Report
Published on 23 Jun 2023
Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1174046
- 3,938 views
- 5 citations
Original Research
Published on 21 Jun 2023
Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1198171
- 6,651 views
- 20 citations
Original Research
Published on 21 Jun 2023
Race/ethnicity-stratified fine-mapping of the MHC locus reveals genetic variants associated with late-onset asthma
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1173676
- 4,730 views
- 5 citations
Case Report
Published on 20 Jun 2023
Case report: Novel frameshift mutation in LAMA2 gene causing congenital muscular dystrophy type 1A
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1158350
- 2,709 views
- 1 citation
Systematic Review
Published on 14 Jun 2023
Population screening for glucose-6-phosphate dehydrogenase deficiency using quantitative point-of-care tests: a systematic review
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1098828
- 6,339 views
- 6 citations
Original Research
Published on 14 Jun 2023
Merosin-deficient congenital muscular dystrophy type 1a: detection of LAMA2 variants in Vietnamese patients
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1183663
- 4,180 views
- 3 citations
Case Report
Published on 14 Jun 2023
Discordant renal progression of Fabry disease in male monozygotic twins: a case report
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1150822
- 2,657 views
- 2 citations
Original Research
Published on 12 Jun 2023
Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1191159
- 5,344 views
- 5 citations
Case Report
Published on 12 Jun 2023
Novel compound heterozygous variants of SLC12A3 gene in a Chinese patient with Gitelman syndrome: a case report
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1067242
- 2,402 views
Clinical Trial
Published on 09 Jun 2023
Cumulative effect of AOC1 gene variants on symptoms and pathological conditions in adult women with fibromyalgia: a pilot study
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1180777
- 9,415 views
- 4 citations
Original Research
Published on 09 Jun 2023
Identifying missing pieces in color vision defects: a genome-wide association study in Silk Road populations
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1161696
- 3,908 views
- 1 citation