Original Research
Published on 17 Oct 2023
NFIA haploinsufficiency: case series and literature review
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1292654
- 4,216 views
- 6 citations
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327 articles
Case Report
Published on 13 Oct 2023
Case report: Suspecting guanine nucleotide-binding protein beta 1 mutation in dyskinetic cerebral palsy is important
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1204360
- 2,034 views
Case Report
Published on 13 Oct 2023
Case report: A compound heterozygous mutations in ASNS broadens the spectrum of asparagine synthetase deficiency in the prenatal diagnosis
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1273789
- 2,240 views
- 4 citations
Original Research
Published on 09 Oct 2023
Truncated DNM1 variant underlines developmental delay and epileptic encephalopathy
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1266376
- 4,304 views
- 1 citation
Original Research
Published on 18 Sep 2023
Developing a cluster-based approach for deciphering complexity in individuals with neurodevelopmental differences
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1171920
- 2,297 views
Case Report
Published on 13 Sep 2023
Case report: Novel insights into hemorrhagic destruction of the brain, subependymal calcification, and cataracts disease
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1178280
- 2,357 views
- 3 citations
Case Report
Published on 07 Sep 2023
Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1132023
- 2,522 views
Case Report
Published on 04 Sep 2023
Case report: Diagnosis of a patient with Sifrim–Hitz–Weiss syndrome, development and epileptic encephalopathy-14, and medium chain acyl-CoA dehydrogenase deficiency
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1230056
- 4,867 views
- 1 citation
Case Report
Published on 25 Aug 2023
A novel homozygous HES7 splicing variant causing spondylocostal dysostosis 4: a case report
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1201999
- 2,085 views
- 1 citation
Original Research
Published on 17 Aug 2023
Maternal, neonatal, pregnancy outcome characteristics of pregnant women with high plasma cell-free DNA concentration in non-invasive prenatal screening: a retrospective analysis
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1195818
- 2,725 views
- 4 citations
Brief Research Report
Published on 17 Aug 2023
Expanding the mutational and clinical spectrum of Chinese intellectual disability patients with two novel CTCF variants
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1195862
- 1,778 views
- 1 citation
Case Report
Published on 16 Aug 2023
Case report: Variability in clinical features as a potential pitfall for the diagnosis of Barth syndrome
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1250772
- 2,106 views
- 6 citations
Case Report
Published on 10 Aug 2023
Case report: Preimplantation genetic testing for X-linked alport syndrome caused by variation in the COL4A5 gene
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1177019
- 2,210 views
- 1 citation
Original Research
Published on 09 Aug 2023
Thiamine pyrophosphokinase deficiency: report of two Chinese cases and a literature review
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1173787
- 3,400 views
- 3 citations
Case Report
Published on 01 Aug 2023
A de novo heterozygous POU3F3 genotype for the p.(Q214*) variant in a fetus with transient isolated bilateral mild ventriculomegaly: a case report and review of the literature
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1177137
- 2,577 views
- 3 citations
Case Report
Published on 27 Jul 2023
Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1212405
- 2,972 views
- 3 citations