Mini Review
Published on 21 May 2020
Progress in the Enzymology of the Mitochondrial Diseases of Lipoic Acid Requiring Enzymes
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.00510
- 6,623 views
- 38 citations
Type at least 3 characters
1,706 articles
Articles
Original Research
Published on 20 May 2020
Prenatal Diagnosis of Glutaric Acidemia I Based on Amniotic Fluid Samples in 42 Families Using Genetic and Biochemical Approaches
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.00496
- 3,808 views
- 11 citations
Brief Research Report
Published on 19 May 2020
The Jeff Mouse Mutant Model for Chronic Otitis Media Manifests Gain-of-Function as Well as Loss-of-Function Effects
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.00498
- 3,230 views
- 2 citations
Case Report
Published on 13 May 2020
Severe Phenotype in a Patient With Homozygous 15q21.2 Microdeletion Involving BCL2L10, GNB5, and MYO5C Genes, Resembling Infantile Developmental Disorder With Cardiac Arrhythmias (IDDCA)
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.00399
- 3,882 views
- 5 citations
Original Research
Published on 07 May 2020
Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.00464
- 10,048 views
- 29 citations
Case Report
Published on 30 Apr 2020
Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the CDH23 Gene Causing Usher Syndrome Type ID in a Chinese Patient
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.00422
- 4,691 views
- 12 citations
Review
Published on 30 Apr 2020
Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir – India
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.00415
- 26,387 views
- 24 citations
Case Report
Published on 28 Apr 2020
Synchronous Periampullary Tumors in a Patient With Pancreas Divisum and Neurofibromatosis Type 1
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.00395
- 3,230 views
- 3 citations
Brief Research Report
Published on 28 Apr 2020
Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.00397
- 11,277 views
- 6 citations
Original Research
Published on 24 Apr 2020
Asian Sand Dust Particles Increased Pneumococcal Biofilm Formation in vitro and Colonization in Human Middle Ear Epithelial Cells and Rat Middle Ear Mucosa
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.00323
- 4,737 views
- 7 citations
Mini Review
Published on 23 Apr 2020
Genomics of Otitis Media (OM): Molecular Genetics Approaches to Characterize Disease Pathophysiology
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.00313
- 8,038 views
- 16 citations
Case Report
Published on 17 Apr 2020
Novel Compound Heterozygous Variants of ETHE1 Causing Ethylmalonic Encephalopathy in a Chinese Patient: A Case Report
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.00341
- 3,044 views
- 7 citations
Original Research
Published on 15 Apr 2020
Single-Cell Transcriptomes Reveal a Complex Cellular Landscape in the Middle Ear and Differential Capacities for Acute Response to Infection
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.00358
- 6,116 views
- 23 citations
Case Report
Published on 15 Apr 2020
A Rare Big Chinese Family With Thrombocytopenia 2: A Case Report and Literature Review
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.00340
- 4,585 views
- 7 citations
Case Report
Published on 08 Apr 2020
Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.00335
- 3,901 views
- 11 citations
Editorial
Published on 03 Apr 2020
Editorial: Genetics of Kidney Diseases
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.00305
- 4,179 views
- 1 citation