ORIGINAL RESEARCH
Published on 30 Sep 2022
Expanded newborn screening for inherited metabolic disorders by tandem mass spectrometry in a northern Chinese population
doi 10.3389/fgene.2022.801447
- 3,458 views
- 5 citations
- Frontiers in Pediatrics
- Genetics of Common and Rare Diseases
- Research Topics
- Highly Consanguineous Populations and Rare Genetic Diseases in Pediatrics
Highly Consanguineous Populations and Rare Genetic Diseases in Pediatrics
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CASE REPORT
Published on 07 Sep 2022
Case report: A novel CASK mutation in a Chinese female child with microcephaly with pontine and cerebellar hypoplasia
doi 10.3389/fgene.2022.856636
- 1,425 views
- 2 citations
ORIGINAL RESEARCH
Published on 08 Jul 2022
Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the PTPRQ Gene Causing Autosomal Recessive Hearing Loss in a Chinese Family
doi 10.3389/fgene.2022.884522
- 1,707 views
- 5 citations
CASE REPORT
Published on 05 Jul 2022
Case Report: Severe Gonadal Dysgenesis Causing 46,XY Disorder of Sex Development Due to a Novel NR5A1 Variant
doi 10.3389/fgene.2022.885589
- 2,217 views
- 3 citations
CASE REPORT
Published on 25 May 2022
Case Report: Dubin-Johnson Syndrome Presenting With Infantile Cholestasis: An Overlooked Diagnosis in an Extended Family
doi 10.3389/fped.2022.855210
- 2,393 views
- 3 citations
ORIGINAL RESEARCH
Published on 24 May 2022
Pathogenicity and Long-Term Outcomes of Liddle Syndrome Caused by a Nonsense Mutation of SCNN1G in a Chinese Family
doi 10.3389/fped.2022.887214
- 2,730 views
CASE REPORT
Published on 23 May 2022
Case Report: Clinical and Genetic Characteristics of Pearson Syndrome in a Chinese Boy and 139 Patients
doi 10.3389/fgene.2022.802402
- 2,522 views
- 9 citations
CASE REPORT
Published on 18 May 2022
Case Report: Adolescent-Onset Isolated Nephronophthisis Caused by a Novel Homozygous Inversin Mutation
doi 10.3389/fgene.2022.847397
- 1,757 views
- 3 citations
ORIGINAL RESEARCH
Published on 26 Apr 2022
Description of the Molecular and Phenotypic Spectrum of Lesch-Nyhan Disease in Eight Chinese Patients
doi 10.3389/fgene.2022.868942
- 3,422 views
- 3 citations
CASE REPORT
Published on 26 Apr 2022
Case Report: DARS Mutations Responsible for Hypomyelination With Brain Stem and Spinal Cord Involvement and Leg Spasticity
doi 10.3389/fgene.2022.845967
- 1,259 views
- 2 citations
BRIEF RESEARCH REPORT
Published on 11 Feb 2022
A Novel Variant of the CHD2 Gene Associated With Developmental Delay and Myoclonic Epilepsy
doi 10.3389/fgene.2022.761178
- 3,652 views
- 3 citations
Published in
Frontiers in Pediatrics
- Genetics of Common and Rare Diseases
Participating Journals
Frontiers in Genetics
- 2.8 impact factor
- 5.5 citescore
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- 28kTopic views
- 21kArticle views
- 7,070Article downloads