EDITORIAL
Published on 25 Sep 2020
Editorial: Advancing Genomics for Rare Disease Diagnosis and Therapy Development
doi 10.3389/fphar.2020.598889
- 2,340 views
- Frontiers in Pharmacology
- Translational Pharmacology
- Research Topics
- Advancing Genomics for Rare Disease Diagnosis and Therapy Development
Advancing Genomics for Rare Disease Diagnosis and Therapy Development
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Articles
CASE REPORT
Published on 04 Mar 2020
Neurologic Manifestations as Initial Clinical Presentation of Familial Hemophagocytic Lymphohistiocytosis Type2 Due to PRF1 Mutation in Chinese Pediatric Patients
doi 10.3389/fgene.2020.00126
- 4,085 views
- 16 citations
ORIGINAL RESEARCH
Published on 04 Dec 2019
Clinical Assessments and EEG Analyses of Encephalopathies Associated With Dynamin-1 Mutation
doi 10.3389/fphar.2019.01454
- 2,751 views
- 16 citations
CASE REPORT
Published on 07 Nov 2019
Sodium Taurocholate Cotransporting Polypeptide (NTCP) Deficiency Hidden Behind Citrin Deficiency in Early Infancy: A Report of Three Cases
doi 10.3389/fgene.2019.01108
- 6,033 views
- 9 citations
ORIGINAL RESEARCH
Published on 22 Oct 2019
Transcriptome Analysis Identifies Piwi-Interacting RNAs as Prognostic Markers for Recurrence of Prostate Cancer
doi 10.3389/fgene.2019.01018
- 3,152 views
- 16 citations
ORIGINAL RESEARCH
Published on 15 Oct 2019
Genotype–Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta Disease
doi 10.3389/fphar.2019.01200
- 6,319 views
- 15 citations
REVIEW
Published on 25 Sep 2019
Development and Clinical Translation of Approved Gene Therapy Products for Genetic Disorders
doi 10.3389/fgene.2019.00868
- 88,687 views
- 210 citations
ORIGINAL RESEARCH
Published on 18 Sep 2019
Frequent Mutations of VHL Gene and the Clinical Phenotypes in the Largest Chinese Cohort With Von Hippel–Lindau Disease
doi 10.3389/fgene.2019.00867
- 10,652 views
- 24 citations
ORIGINAL RESEARCH
Published on 13 Sep 2019
Association of SERPINC1 Gene Polymorphism (rs2227589) With Pulmonary Embolism Risk in a Chinese Population
doi 10.3389/fgene.2019.00844
- 3,235 views
- 9 citations
ORIGINAL RESEARCH
Published on 13 Sep 2019
Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria
doi 10.3389/fphar.2019.01018
- 4,578 views
- 16 citations
ORIGINAL RESEARCH
Published on 22 Aug 2019
Novel Neonatal Variants of the Carbamoyl Phosphate Synthetase 1 Deficiency: Two Case Reports and Review of Literature
doi 10.3389/fgene.2019.00718
- 4,260 views
- 11 citations
ORIGINAL RESEARCH
Published on 09 Aug 2019
COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients
doi 10.3389/fgene.2019.00722
- 11,965 views
- 35 citations
Published in
Frontiers in Pharmacology
- Translational Pharmacology
Participating Journals
Frontiers in Genetics
- 2.8 impact factor
- 5.5 citescore
Frontiers in Pediatrics
- 2.1 impact factor
- 3.6 citescore
Impact
- 237kTopic views
- 186kArticle views
- 46kArticle downloads