Original Research
Published on 17 Oct 2022
Characterization of m6A-related lncRNA signature in neuroblastoma
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.927885
- 2,316 views
- 1 citation
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406 articles
Clinical Trial
Published on 06 Oct 2022
Dietary fiber and probiotics based on gut microbiota targeting for functional constipation in children with cerebral palsy
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.1001789
- 6,233 views
- 6 citations
Case Report
Published on 06 Oct 2022
Case report: A novel truncating variant of BCL11B associated with rare feature of craniosynostosis and global developmental delay
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.982361
- 2,958 views
- 11 citations
Case Report
Published on 06 Oct 2022
Case report: Robust response of metastatic clear cell sarcoma treated with cabozantinib and immunotherapy
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.940927
- 7,031 views
- 4 citations
Original Research
Published on 03 Oct 2022
Citrullinemia type I in Chinese children: Identification of two novel argininosuccinate synthetase gene mutations
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.992156
- 3,055 views
- 2 citations
Case Report
Published on 28 Sep 2022
Infantile-onset Pompe disease complicated by sickle cell anemia: Case report and management considerations
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.944178
- 2,856 views
- 1 citation
Case Report
Published on 14 Sep 2022
Case report: Clinical manifestations and genotype analysis of a child with PTPN11 and SEC24D mutations
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.973920
- 2,703 views
- 1 citation
Original Research
Published on 14 Sep 2022
Clinical features and genotypes of six patients from four families with horizontal gaze palsy with progressive scoliosis
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.949565
- 2,269 views
- 3 citations
Brief Research Report
Published on 14 Sep 2022
Molecular characterization of PI*Shangzhou, a SERPINA1 allele from continental China encoding a defective alpha-1-antitrypsin
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.985892
- 2,019 views
- 3 citations
Original Research
Published on 08 Sep 2022
Identification of molecular patterns and diagnostic biomarkers in juvenile idiopathic arthritis based on the gene expression of m6A regulators
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.930119
- 2,314 views
- 1 citation
Original Research
Published on 08 Sep 2022
Differences in severity of cardiovascular anomalies in children with Noonan syndrome based on the causative gene
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.946071
- 1,645 views
- 4 citations
Mini Review
Published on 06 Sep 2022
Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.900606
- 7,909 views
- 19 citations
Original Research
Published on 06 Sep 2022
Detection of a novel SETBP1 variant in a Chinese neonate with Schinzel–Giedion syndrome
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.920741
- 2,689 views
- 7 citations
Original Research
Published on 31 Aug 2022
ROHHAD syndrome without rapid-onset obesity: A diagnosis challenge
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.910099
- 5,155 views
- 8 citations
Case Report
Published on 30 Aug 2022
Case report: First case report of an Emirati child with a novel gene variant causing aromatic L-amino acid decarboxylase deficiency
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.964201
- 2,881 views
- 2 citations
Case Report
Published on 26 Aug 2022
Case report: Novel compound heterozygous missense mutations in the DDHD2 gene in a Chinese patient associated with spastic paraplegia type 54
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.997274
- 2,053 views
- 2 citations