Original Research
Published on 13 Mar 2023
Genotype-phenotype correlation in patients with 21-hydroxylase deficiency
in Adrenal Endocrinology
Frontiers in Endocrinology
doi 10.3389/fendo.2023.1095719
- 6,082 views
- 5 citations
160 articles related to "Genotype Phenotype Correlation"
Articles
Editorial
Published on 23 Aug 2021
Editorial: Genotype-Phenotype Correlation in Parkinsonian Conditions
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2021.743953
- 2,294 views
Review
Published on 21 May 2015
Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias
in Neurogenesis
Frontiers in Neuroscience
doi 10.3389/fnins.2015.00181
- 18,050 views
- 57 citations
Original Research
Published on 27 Jul 2023
Genotype-phenotype correlation of WT1 mutation-related nephropathy in Chinese children
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2023.1192021
- 4,154 views
- 8 citations
Original Research
Published on 05 May 2023
SZT2 variants associated with partial epilepsy or epileptic encephalopathy and the genotype-phenotype correlation
in Molecular Signalling and Pathways
Frontiers in Molecular Neuroscience
doi 10.3389/fnmol.2023.1162408
- 7,927 views
- 16 citations
Original Research
Accepted on 21 Apr 2026
Genotype-Phenotype Correlation in Alpha Thalassemia: Predicting Genetic Subgroups via Laboratory Parameters
in Hematology
Frontiers in Medicine
- 219 views
Original Research
Published on 26 Jul 2022
PRRT2 gene mutations associated with infantile convulsions induced by sucking and the genotype-phenotype correlation
in Pediatric Neurology
Frontiers in Neurology
doi 10.3389/fneur.2022.836048
- 4,073 views
- 5 citations
Original Research
Published on 22 Jan 2021
Neonatal Screening and Genotype-Phenotype Correlation of 21-Hydroxylase Deficiency in the Chinese Population
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.623125
- 8,221 views
- 4 citations
Original Research
Published on 24 Mar 2025
Genotype-phenotype correlation in a cohort of pediatric patients with autoinflammatory diseases carrying NOD2 variants
in Autoimmune and Autoinflammatory Disorders: Autoinflammatory Disorders
Frontiers in Immunology
doi 10.3389/fimmu.2025.1439333
- 3,660 views
Original Research
Published on 06 Jun 2025
New variants and genotype-phenotype correlation of PPP3CA-related developmental and epileptic encephalopathy
in Neurodevelopment
Frontiers in Neuroscience
doi 10.3389/fnins.2025.1570997
- 3,482 views
- 1 citation
Original Research
Published on 16 Nov 2023
Genotype-phenotype correlation in Taiwanese children with diazoxide-unresponsive congenital hyperinsulinism
in Pediatric Endocrinology
Frontiers in Endocrinology
doi 10.3389/fendo.2023.1283907
- 4,856 views
- 6 citations
Review
Published on 14 Jul 2020
Genotype-Phenotype Correlation for Predicting Cochlear Implant Outcome: Current Challenges and Opportunities
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.00678
- 11,088 views
- 26 citations
Case Report
Published on 09 Mar 2023
Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region
in Epilepsy
Frontiers in Neurology
doi 10.3389/fneur.2023.1092887
- 3,854 views
- 3 citations
Original Research
Published on 17 Mar 2022
Reliable and Scalable Identification and Prioritization of Putative Cellulolytic Anaerobes With Large Genome Data
in Genomic Analysis
Frontiers in Bioinformatics
doi 10.3389/fbinf.2022.813771
- 2,767 views
- 2 citations
Review
Published on 26 Apr 2024
Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation
in Pediatric Endocrinology
Frontiers in Endocrinology
doi 10.3389/fendo.2024.1382583
- 11,451 views
- 15 citations
Original Research
Published on 10 May 2022
Recessive PKD1 Mutations Are Associated With Febrile Seizures and Epilepsy With Antecedent Febrile Seizures and the Genotype-Phenotype Correlation
in Molecular Signalling and Pathways
Frontiers in Molecular Neuroscience
doi 10.3389/fnmol.2022.861159
- 7,440 views
- 16 citations