REVIEW
Published on 22 Mar 2021
Genetic and Non-genetic Workup for Pediatric Congenital Hearing Loss
doi 10.3389/fped.2021.536730
- 9,409 views
- 20 citations
- Frontiers in Pediatrics
- Genetics of Common and Rare Diseases
- Research Topics
- Genetic Testing in Pediatric Disorders
Genetic Testing in Pediatric Disorders
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Articles
REVIEW
Published on 19 Feb 2021
Genetic Testing in Neurodevelopmental Disorders
doi 10.3389/fped.2021.526779
- 53,795 views
- 141 citations
ORIGINAL RESEARCH
Published on 20 Nov 2020
Pharmacodynamic Gene Testing in Prader-Willi Syndrome
doi 10.3389/fgene.2020.579609
- 3,753 views
- 3 citations
ORIGINAL RESEARCH
Published on 11 Nov 2020
Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses
doi 10.3389/fgene.2020.580477
- 4,608 views
- 11 citations
CASE REPORT
Published on 11 Nov 2020
Two Novel Mutations of ANKRD11 Gene and Wide Clinical Spectrum in KBG Syndrome: Case Reports and Literature Review
doi 10.3389/fgene.2020.579805
- 3,892 views
- 13 citations
ORIGINAL RESEARCH
Published on 02 Nov 2020
An Initial Survey of the Performances of Exome Variant Analysis and Clinical Reporting Among Diagnostic Laboratories in China
doi 10.3389/fgene.2020.582637
- 2,058 views
- 6 citations
CASE REPORT
Published on 21 Aug 2020
Next-Generation Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Combined Features of Spherocytosis and Antley-Bixler Syndrome With Genital Anomalies and Disordered Steroidogenesis
doi 10.3389/fgene.2020.00976
- 1,928 views
- 3 citations
ORIGINAL RESEARCH
Published on 14 Aug 2020
Novel Compound Heterozygous Mutations in CRTAP Cause Rare Autosomal Recessive Osteogenesis Imperfecta
doi 10.3389/fgene.2020.00897
- 4,529 views
- 8 citations
CASE REPORT
Published on 23 Jul 2020
Late-Onset Ornithine Transcarbamylase Deficiency and Variable Phenotypes in Vietnamese Females With OTC Mutations
doi 10.3389/fped.2020.00321
- 8,330 views
- 8 citations
CASE REPORT
Published on 17 Jul 2020
A Heterozygous Novel Mutation in TFAP2A Gene Causes Atypical Branchio-Oculo-Facial Syndrome With Isolated Coloboma of Choroid: A Case Report
doi 10.3389/fped.2020.00380
- 2,736 views
- 6 citations
CASE REPORT
Published on 15 Jul 2020
16q24.3 Microduplication in a Patient With Developmental Delay, Intellectual Disability, Short Stature, and Nonspecific Dysmorphic Features: Case Report and Review of the Literature
doi 10.3389/fped.2020.00390
- 6,543 views
- 8 citations
REVIEW
Published on 08 Jul 2020
Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution
doi 10.3389/fped.2020.00373
- 19,181 views
- 44 citations
Published in
Frontiers in Pediatrics
Genetics of Common and Rare Diseases
Participating Journals
Frontiers in Genetics
- 2.8 impact factor
- 5.5 citescore