Case Report
Published on 05 May 2023
Case report: Muscle involvement in a Chinese patient with TRNT1-related disorder
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1160107
- 1,990 views
Type at least 3 characters
404 articles
Case Report
Published on 05 May 2023
Multimodal optical imaging and genetic features of AB variant GM2 gangliosidosis: a case report
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1147836
- 2,252 views
Original Research
Published on 24 Apr 2023
A novel compound heterozygous mutation of the CLCN7 gene is associated with autosomal recessive osteopetrosis
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.978879
- 2,591 views
- 2 citations
Case Report
Published on 21 Apr 2023
De novo 11q13.3q13.4 deletion in a patient with Fanconi renotubular syndrome and intellectual disability: Case report and review of literature
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1097062
- 2,687 views
- 1 citation
Case Report
Published on 17 Apr 2023
A mosaic mutation in the CLCNKB gene causing Bartter syndrome: A case report
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1034923
- 1,858 views
- 1 citation
Original Research
Published on 11 Apr 2023
Maternal and fetal factors influencing fetal fraction: A retrospective analysis of 153,306 pregnant women undergoing noninvasive prenatal screening
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1066178
- 34,106 views
- 10 citations
Case Report
Published on 11 Apr 2023
A Chinese family with cat eye syndrome and abnormality of eye movement: First case report
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1145183
- 2,935 views
- 1 citation
Case Report
Published on 30 Mar 2023
Bartter syndrome type III with glomerular dysplasia and chronic kidney disease: A case report
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1169486
- 2,667 views
- 1 citation
Case Report
Published on 23 Mar 2023
Case report: A case of epidermolysis bullosa complicated with pyloric atresia and a literature review
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1098273
- 3,418 views
- 4 citations
Original Research
Published on 17 Mar 2023
Prenatal phenotype features and genetic etiology of the Williams-Beuren syndrome and literature review
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1141665
- 3,675 views
- 4 citations
Original Research
Published on 15 Mar 2023
Two novel heterozygote mutations of ATM in a Chinese family with dystonia-dominant ataxia telangiectasia and literature review
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.975696
- 1,786 views
- 1 citation
Original Research
Published on 14 Mar 2023
Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1157630
- 3,250 views
- 7 citations
Case Report
Published on 14 Mar 2023
Case report: Gene mutations and clinical characteristics of four patients with osteopetrosis
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1096770
- 2,119 views
- 3 citations
Original Research
Published on 09 Mar 2023
Outcomes of children with cystic fibrosis screen positive, inconclusive diagnosis/CFTR related metabolic syndrome
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1127659
- 3,431 views
- 12 citations
Case Report
Published on 09 Mar 2023
Case report: COPA syndrome with interstitial lung disease, skin involvement, and neuromyelitis spectrum disorder
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1118097
- 2,957 views
- 3 citations
Original Research
Published on 03 Mar 2023
Literature review, report, and analysis of genotype and clinical phenotype of a rare case of ulnar-mammary syndrome
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1052931
- 2,753 views
- 3 citations