Review
Published on 17 Dec 2020
Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.550591
- 3,248 views
- 5 citations
Type at least 3 characters
1,706 articles
Articles
Case Report
Published on 15 Dec 2020
Case Report: The Role of Molecular Analysis of the MUTYH Gene in Asymptomatic Individuals
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.590486
- 6,584 views
- 6 citations
Case Report
Published on 15 Dec 2020
Whole-Exome Sequencing Identified Novel CLMP Mutations in a Family With Congenital Short Bowel Syndrome Presenting Differently in Two Probands
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.574943
- 2,493 views
- 4 citations
Original Research
Published on 10 Dec 2020
The Genotype-Phenotype Association of Von Hipple Lindau Disease Based on Mutation Locations: A Retrospective Study of 577 Cases in a Chinese Population
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.532588
- 3,699 views
- 8 citations
Original Research
Published on 09 Dec 2020
Novel SOX10 Mutations in Waardenburg Syndrome: Functional Characterization and Genotype-Phenotype Analysis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.589784
- 6,325 views
- 14 citations
Original Research
Published on 09 Dec 2020
Identification of a Rare and Potential Pathogenic MC4R Variant in a Brazilian Patient With Adulthood-Onset Severe Obesity
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.608840
- 5,185 views
- 2 citations
Review
Published on 03 Dec 2020
Genetics of Hypercholesterolemia: Comparison Between Familial Hypercholesterolemia and Hypercholesterolemia Nonrelated to LDL Receptor
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.554931
- 8,957 views
- 6 citations
Case Report
Published on 03 Dec 2020
Case Report: Distinctive EEG Patterns in SCARB-2 Related Progressive Myoclonus Epilepsy
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.581253
- 2,688 views
- 3 citations
Original Research
Published on 02 Dec 2020
Sanger Validation of High-Throughput Sequencing in Genetic Diagnosis: Still the Best Practice?
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.592588
- 19,057 views
- 29 citations
Review
Published on 27 Nov 2020
Recent Advances in the Pathophysiology of Fatty Acid Oxidation Defects: Secondary Alterations of Bioenergetics and Mitochondrial Calcium Homeostasis Caused by the Accumulating Fatty Acids
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.598976
- 7,271 views
- 9 citations
Original Research
Published on 27 Nov 2020
Transcriptional Profiling Reveals the Regulatory Role of DNER in Promoting Pancreatic Neuroendocrine Neoplasms
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.587402
- 3,265 views
- 7 citations
Original Research
Published on 27 Nov 2020
Xeroderma Pigmentosum C (XPC) Mutations in Primary Fibroblasts Impair Base Excision Repair Pathway and Increase Oxidative DNA Damage
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.561687
- 10,959 views
- 20 citations
Original Research
Published on 27 Nov 2020
Molecular Analysis of CYP27B1 Mutations in Vitamin D-Dependent Rickets Type 1A: c.590G > A (p.G197D) Missense Mutation Causes a RNA Splicing Error
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.607517
- 3,676 views
- 7 citations
Original Research
Published on 20 Nov 2020
Pharmacodynamic Gene Testing in Prader-Willi Syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.579609
- 4,359 views
- 3 citations
Case Report
Published on 16 Nov 2020
Case Report: Characterization of a Novel NONO Intronic Mutation in a Fetus With X-Linked Syndromic Mental Retardation-34
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.593688
- 4,719 views
- 15 citations
Brief Research Report
Published on 13 Nov 2020
Development and Validation of a Mathematical Model to Predict the Complexity of FMR1 Allele Combinations
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.557147
- 1,717 views
- 3 citations