HYPOTHESIS AND THEORY
Published on 10 Dec 2018
Infantile Neuroaxonal Dystrophy: Diagnosis and Possible Treatments
doi 10.3389/fgene.2018.00597
- 72,073 views
- 14 citations
- Frontiers in Genetics
- Genetics of Common and Rare Diseases
- Research Topics
- Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research
Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research
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Articles
REVIEW
Published on 15 Aug 2018
Emergence of Intrahepatic Cholangiocarcinoma: How High-Throughput Technologies Expedite the Solutions for a Rare Cancer Type
doi 10.3389/fgene.2018.00309
- 13,146 views
- 20 citations
REVIEW
Published on 09 Jul 2018
Exploring the Crosstalk Between LMNA and Splicing Machinery Gene Mutations in Dilated Cardiomyopathy
doi 10.3389/fgene.2018.00231
- 7,021 views
- 31 citations
MINI REVIEW
Published on 04 Jul 2018
Pre-clinical Models for Malignant Mesothelioma Research: From Chemical-Induced to Patient-Derived Cancer Xenografts
doi 10.3389/fgene.2018.00232
- 3,145 views
- 9 citations
ORIGINAL RESEARCH
Published on 23 May 2018
Gene-Expression Analysis Identifies IGFBP2 Dysregulation in Dental Pulp Cells From Human Cleidocranial Dysplasia
doi 10.3389/fgene.2018.00178
- 3,886 views
- 4 citations
PERSPECTIVE
Published on 17 May 2018
RNA-Sequencing of Primary Retinoblastoma Tumors Provides New Insights and Challenges Into Tumor Development
doi 10.3389/fgene.2018.00170
- 4,409 views
- 9 citations
CASE REPORT
Published on 18 Apr 2018
Rare Compound Heterozygous Frameshift Mutations in ALMS1 Gene Identified Through Exome Sequencing in a Taiwanese Patient With Alström Syndrome
doi 10.3389/fgene.2018.00110
- 2,869 views
- 11 citations
REVIEW
Published on 23 Mar 2018
Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3
doi 10.3389/fgene.2018.00080
- 25,058 views
- 62 citations
ORIGINAL RESEARCH
Published on 02 Mar 2018
Loss of the Intellectual Disability and Autism Gene Cc2d1a and Its Homolog Cc2d1b Differentially Affect Spatial Memory, Anxiety, and Hyperactivity
doi 10.3389/fgene.2018.00065
- 4,344 views
- 16 citations
REVIEW
Published on 14 Feb 2018
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders
doi 10.3389/fgene.2018.00029
- 37,016 views
- 133 citations
CASE REPORT
Published on 11 Dec 2017
Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report
doi 10.3389/fgene.2017.00210
- 4,675 views
- 21 citations
Published in
Frontiers in Genetics
- Genetics of Common and Rare Diseases
Participating Journals
Frontiers in Pediatrics
- 2.1 impact factor
- 3.6 citescore
Impact
- 169kTopic views
- 143kArticle views
- 23kArticle downloads