Review
Published on 31 May 2013
Bridging the Gap between Genotype and Phenotype via Network Approaches
in Statistical Genetics and Methodology
Frontiers in Genetics
doi 10.3389/fgene.2012.00227
- 17,519 views
- 51 citations
116 articles related to "Genotype And Phenotype"
Articles
Original Research
Published on 09 Aug 2021
Genotype and Phenotype Analysis in X-Linked Hypophosphatemia
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2021.699767
- 6,233 views
- 18 citations
Original Research
Published on 13 Oct 2021
The Genotype and Phenotype Features in a Large Chinese MFN2 Mutation Cohort
in Neuromuscular Disorders and Peripheral Neuropathies
Frontiers in Neurology
doi 10.3389/fneur.2021.757518
- 4,403 views
- 11 citations
Original Research
Published on 11 Mar 2025
Effects of regional location on the genotype and phenotype of historical Irish brewing yeast
in Food Microbiology
Frontiers in Microbiology
doi 10.3389/fmicb.2025.1452334
- 2,406 views
- 1 citation
Original Research
Published on 16 Sep 2025
The relationship between genotype and phenotype in Chinese children with glucose transporter type 1 deficiency syndrome
in Pediatric Neurology
Frontiers in Neurology
doi 10.3389/fneur.2025.1638549
- 2,661 views
Case Report
Published on 18 Jun 2020
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.00592
- 9,954 views
- 18 citations
Original Research
Published on 11 Nov 2022
Genotype and phenotype spectrum of 10 children with STXBP1 gene-related encephalopathy and epilepsy
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.1010886
- 7,116 views
- 5 citations
Original Research
Published on 10 May 2021
The Genotype and Phenotype of Proline-Rich Transmembrane Protein 2 Associated Disorders in Chinese Children
in Pediatric Neurology
Frontiers in Pediatrics
doi 10.3389/fped.2021.676616
- 4,240 views
- 12 citations
Original Research
Published on 10 Mar 2020
Genotype and Phenotype Analysis of Chinese Children With Tuberous Sclerosis Complex: A Pediatric Cohort Study
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.00204
- 8,040 views
- 27 citations
Review
Published on 21 Aug 2025
Phenotype and genotype in hereditary chronic intestinal pseudo-obstruction with small intestine involvement
in Gastroenterology
Frontiers in Medicine
doi 10.3389/fmed.2025.1632816
- 2,462 views
Original Research
Published on 21 Sep 2023
The genetic and clinical characteristics and effects of Canakinumab on cryopyrin-associated periodic syndrome: a large pediatric cohort study from China
in Autoimmune and Autoinflammatory Disorders : Autoimmune Disorders
Frontiers in Immunology
doi 10.3389/fimmu.2023.1267933
- 4,663 views
- 8 citations
Original Research
Published on 19 Sep 2023
A genetic study of a Brazilian cohort of patients with X-linked hypophosphatemia reveals no correlation between genotype and phenotype
in Pediatric Endocrinology
Frontiers in Pediatrics
doi 10.3389/fped.2023.1215952
- 3,899 views
- 2 citations
Original Research
Published on 15 Sep 2022
A single-center analysis of genotype–phenotype characteristics of Chinese patients with autosomal dominant polycystic kidney disease by targeted exome sequencing
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.934463
- 4,739 views
- 3 citations
Case Report
Published on 16 Aug 2022
Case Report: Aarskog-scott syndrome caused by FGD1 gene variation: A family study
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.932073
- 8,702 views
- 4 citations
Original Research
Published on 25 Apr 2018
Identification and Functional Characterization of a Novel Mutation in the Human Calcium-Sensing Receptor That Co-Segregates With Autosomal-Dominant Hypocalcemia
in Molecular and Structural Endocrinology
Frontiers in Endocrinology
doi 10.3389/fendo.2018.00200
- 4,405 views
- 10 citations
Case Report
Published on 03 Sep 2025
Case Report: A case of Poirier–Bienvenu neurodevelopmental syndrome manifesting primarily as eyelid myoclonia
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2025.1583346
- 1,587 views