Case Report
Published on 19 Jan 2023
A rare case report of waldenström macroglobulinemia converted to serum low IgM
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1051917
- 3,453 views
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1,326 articles
Case Report
Published on 17 Jan 2023
Case report: A novel de novo loss of function variant in the DNA-binding domain of TBX2 causes severe osteochondrodysplasia
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1117500
- 2,994 views
- 2 citations
Brief Research Report
Published on 17 Jan 2023
Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1048330
- 5,599 views
- 7 citations
Case Report
Published on 17 Jan 2023
Case Report: Early diagnosis of lethal multiple pterygium syndrome with micrognathia: Two novel mutations in the CHRND gene
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1005624
- 2,414 views
- 3 citations
Methods
Published on 16 Jan 2023
Synthesis of positive plasmas with known chromosomal abnormalities for validation of non-invasive prenatal screening
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.971087
- 1,663 views
- 1 citation
Original Research
Published on 13 Jan 2023
Prenatal diagnosis of recurrent moderate skeletal dysplasias in lamin B receptors
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1020475
- 2,112 views
- 3 citations
Case Report
Published on 13 Jan 2023
Chronic granulomatous disease associated with Duchenne muscular dystrophy caused by Xp21.1 contiguous gene deletion syndrome: Case report and literature review
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.970204
- 4,451 views
- 4 citations
Perspective
Published on 13 Jan 2023
Systematic errors in annotations of truncations, loss-of-function and synonymous variants
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1015017
- 3,281 views
- 7 citations
Original Research
Published on 13 Jan 2023
Phenotypic and genetic characteristics of 130 patients with mucopolysaccharidosis type II: A single-center retrospective study in China
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1103620
- 3,041 views
- 7 citations
Review
Published on 13 Jan 2023
Gene therapy for lysosomal storage diseases: Current clinical trial prospects
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1064924
- 12,925 views
- 22 citations
Methods
Published on 12 Jan 2023
Development of multi-level standards of care recommendations for sickle cell disease: Experience from SickleInAfrica
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1052179
- 4,213 views
- 15 citations
Mini Review
Published on 12 Jan 2023
Leukoencephalopathy hypomyelination with brainstem and spinal cord involvement and leg spasticity caused by DARS1 mutations
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1009230
- 3,033 views
- 3 citations
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
- 4,265 views
- 4 citations
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
- 4,348 views
- 4 citations
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
- 3,045 views
- 8 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
- 4,544 views
- 11 citations