EDITORIAL
Published on 08 Sep 2022
Editorial: Developmental delay and intellectual disability
doi 10.3389/fgene.2022.934815
- 5,706 views
- 1 citation
- Frontiers in Genetics
- Genetics of Common and Rare Diseases
- Research Topics
- Developmental Delay and Intellectual Disability
Developmental Delay and Intellectual Disability
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Articles
ORIGINAL RESEARCH
Published on 23 Jun 2022
Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome
doi 10.3389/fgene.2022.806190
- 1,811 views
- 2 citations
CASE REPORT
Published on 11 Mar 2022
Case Report: Infantile Cerebellar-Retinal Degeneration With Compound Heterozygous Variants in ACO2 Gene—Long-Term Follow-Up of a Sibling
doi 10.3389/fgene.2022.729980
- 1,937 views
CASE REPORT
Published on 04 Mar 2022
Compound Heterozygous Variants in a Surviving Patient With Alkuraya-Kučinskas Syndrome: A New Case Report and a Review of the Literature
doi 10.3389/fped.2022.806752
- 2,622 views
- 1 citation
CASE REPORT
Published on 18 Feb 2022
Case Report: Genetic Analysis of a Small Supernumerary Marker Chromosome in a Unique Case of Mosaic Turner Syndrome
doi 10.3389/fped.2022.799284
- 2,677 views
- 1 citation
ORIGINAL RESEARCH
Published on 07 Feb 2022
A Nonsense Variant of ZNF462 Gene Associated With Weiss–Kruszka Syndrome–Like Manifestations: A Case Study and Literature Review
doi 10.3389/fgene.2022.781832
- 2,504 views
- 4 citations
STUDY PROTOCOL
Published on 01 Feb 2022
Genome Sequencing for Genetics Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study
doi 10.3389/fgene.2021.766964
- 3,858 views
- 9 citations
CASE REPORT
Published on 26 Jan 2022
Case Report: A Relatively Mild Phenotype Produced by Novel Mutations in the SEPSECS Gene
doi 10.3389/fped.2021.805575
- 2,505 views
- 1 citation
CASE REPORT
Published on 01 Dec 2021
Case Report: Congenital Brain Dysplasia, Developmental Delay and Intellectual Disability in a Patient With a 7q35-7q36.3 Deletion
doi 10.3389/fgene.2021.761003
- 5,465 views
ORIGINAL RESEARCH
Published on 23 Nov 2021
Familial Translocation t(2;4) (q37.3;p16.3), Resulting in a Partial Trisomy of 2q (or 4p) and a Partial Monosomy of 4p (or 2q), Causes Dysplasia
doi 10.3389/fgene.2021.741607
- 1,543 views
ORIGINAL RESEARCH
Published on 10 Nov 2021
Genetic Analysis of Children With Unexplained Developmental Delay and/or Intellectual Disability by Whole-Exome Sequencing
doi 10.3389/fgene.2021.738561
- 5,221 views
- 16 citations
CASE REPORT
Published on 29 Oct 2021
Case Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the Phenotype
doi 10.3389/fgene.2021.750110
- 3,042 views
- 5 citations
Published in
Frontiers in Genetics
- Genetics of Common and Rare Diseases
Participating Journals
Frontiers in Pediatrics
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