Case Report
Published on 17 Sep 2021
Case Report: Two Newly Diagnosed Patients With KBG Syndrome—Two Different Molecular Changes
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2021.649043
- 10,517 views
- 2 citations
Type at least 3 characters
385 articles
Articles
Case Report
Published on 13 Sep 2021
Case Report: The Genetic Diagnosis of Duchenne Muscular Dystrophy in the Middle East
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2021.716424
- 9,992 views
- 10 citations
Review
Published on 03 Sep 2021
Congenital Disorders of Glycosylation: What Clinicians Need to Know?
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2021.715151
- 14,775 views
- 32 citations
Case Report
Published on 31 Aug 2021
Case Report: Clinical Features of a Chinese Boy With Epileptic Seizures and Intellectual Disabilities Who Carries a Truncated NUS1 Variant
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2021.725231
- 3,394 views
- 9 citations
Case Report
Published on 30 Aug 2021
A de novo Variant of ASXL1 Is Associated With an Atypical Phenotype of Bohring-Opitz Syndrome: Case Report and Literature Review
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2021.678615
- 4,166 views
- 6 citations
Case Report
Published on 27 Aug 2021
Novel GLDC Compound Heterozygous Variant Leading to Nonketotic Hyperglycinemia: Case Report and Literature Review
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2021.725930
- 2,863 views
- 6 citations
Case Report
Published on 27 Aug 2021
Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variant
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2021.728077
- 3,239 views
- 4 citations
Original Research
Published on 23 Aug 2021
Molecular Characterization of α- and β-Thalassaemia Among Children From 1 to 10 Years of Age in Guangxi, A Multi-Ethnic Region in Southern China
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2021.724196
- 2,783 views
- 10 citations
Case Report
Published on 20 Aug 2021
Case Report: Expressive Speech Disorder in a Family as a Hallmark of 7q31 Deletion Involving the FOXP2 Gene
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2021.664548
- 5,918 views
- 4 citations
Case Report
Published on 20 Aug 2021
Case Report: Hereditary Alpha Tryptasemia in Children: A Pediatric Case Series and a Brief Overview of Literature
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2021.716786
- 15,061 views
- 2 citations
Original Research
Published on 17 Aug 2021
A Novel Lipoprotein Lipase Mutation in an Infant With Glycogen Storage Disease Type-Ib and Severe Hypertriglyceridemia
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2021.671536
- 2,311 views
- 2 citations
Original Research
Published on 09 Aug 2021
Genotype and Phenotype Analysis in X-Linked Hypophosphatemia
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2021.699767
- 4,630 views
- 11 citations
Original Research
Published on 03 Aug 2021
Whole Exome Sequencing Confirms Molecular Diagnostics of Three Pakhtun Families With Autosomal Recessive Epidermolysis Bullosa
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2021.727288
- 3,593 views
- 3 citations
Case Report
Published on 08 Jul 2021
DNM1L-Related Mitochondrial Fission Defects Presenting as Encephalopathy: A Case Report and Literature Review
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2021.626657
- 7,007 views
- 18 citations
Case Report
Published on 08 Jul 2021
Case Report: Wiskott-Aldrich Syndrome Caused by Extremely Skewed X-Chromosome Inactivation in a Chinese Girl
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2021.691524
- 5,665 views
- 5 citations
Original Research
Published on 06 Jul 2021
Updates on Clinical and Genetic Heterogeneity of ASPM in 12 Autosomal Recessive Primary Microcephaly Families in Pakistani Population
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2021.695133
- 4,339 views
- 6 citations