Editorial
Published on 24 Jan 2022
Editorial: New Therapeutic Options for Rare Diseases
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2021.832395
- 2,313 views
- 1 citation
Type at least 3 characters
374 articles
Articles
Original Research
Published on 20 Jan 2022
A Novel Mutation in ATRX Causes Alpha-Thalassemia X-Linked Intellectual Disability Syndrome in a Han Chinese Family
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2021.811812
- 3,941 views
Case Report
Published on 04 Jan 2022
A Novel Homozygous PKP2 Variant in Severe Neonatal Non-compaction and Concomitant Ventricular Septal Defect: A Case Report
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2021.801491
- 3,385 views
- 6 citations
Case Report
Published on 03 Jan 2022
Case Report: Japanese Siblings of Cystic Fibrosis With a Novel Large Heterozygous Deletion in the CFTR Gene
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2021.800095
- 2,978 views
- 2 citations
Correction
Published on 14 Dec 2021
Corrigendum: Case Report: Two Monochorionic Twins With a Critically Different Course of Progressive Osseous Heteroplasia
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2021.807812
- 1,019 views
Case Report
Published on 02 Dec 2021
Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2021.783553
- 2,643 views
- 5 citations
Case Report
Published on 01 Dec 2021
A Case Report and Literature Review of a Novel Mutation in the MAGED2 Gene of a Patient With Severe Transient Polyhydramnios
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2021.778814
- 2,483 views
- 7 citations
Original Research
Published on 25 Nov 2021
Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2021.751895
- 4,818 views
- 4 citations
Original Research
Published on 19 Nov 2021
Quantification of Differential Metabolites in Dried Blood Spots Using Second-Tier Testing for SCADD/IBDD Disorders Based on Large-Scale Newborn Screening in a Chinese Population
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2021.757424
- 2,923 views
- 6 citations
Original Research
Published on 18 Nov 2021
Analysis of miRNA Profiles and the Regulatory Network in Congenital Pulmonary Airway Malformations
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2021.671107
- 2,651 views
- 4 citations
Original Research
Published on 12 Nov 2021
Three Novel and One Potential Hotspot CPT1A Variants in Chinese Patients With Carnitine Palmitoyltransferase 1A Deficiency
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2021.771922
- 2,668 views
- 1 citation
Original Research
Published on 05 Nov 2021
Floating-Harbor Syndrome Treated With Recombinant Human Growth Hormone: A Case Report and Literature Review
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2021.747353
- 3,823 views
- 5 citations
Original Research
Published on 26 Oct 2021
Association of Stress, Glucocorticoid Receptor, and FK506 Binding Protein Gene Polymorphisms With Internalizing Disorders Among HIV-Infected Children and Adolescents From Kampala and Masaka Districts—Uganda
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2021.666426
- 1,869 views
Case Report
Published on 21 Oct 2021
Prenatal Diagnosis of a Mosaic Paternal Uniparental Disomy for Chromosome 14: A Case Report of Kagami–Ogata Syndrome
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2021.691761
- 2,185 views
- 3 citations
Case Report
Published on 21 Oct 2021
Case Report: Identification of Polygenic Mutations by Exome Sequencing
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2021.689901
- 2,304 views
Original Research
Published on 18 Oct 2021
Neonatal Metabolic Acidosis in the Neonatal Intensive Care Unit: What Are the Genetic Causes?
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2021.727301
- 43,101 views
- 4 citations