Search results: Sage Journals

Restricted accessResearch articleFirst published October, 2017

Primer in Genetics and Genomics,Article 5—Further Defining the Concepts of Genotype and Phenotype and Exploring Genotype–Phenotype Associations

Fay Wright, Kristen Fessele

Biological Research For Nursing

Open accessResearch articleFirst published 2010

A Penalized Mixture Model Approach in Genotype/Phenotype Association Analysis for Quantitative Phenotypes

Lang Li, Silvana Borges, Robarge D. Jason [...]

Cancer Informatics

Open accessResearch articleFirst published 2018

Same MSH2 Gene Mutation But Variable Phenotypes in 2 Families With Lynch Syndrome: Two Case Reports and Review of Genotype-Phenotype Correlation

Raffaella Liccardo, Marina De Rosa, Francesca Duraturo

Clinical Medicine Insights: Case Reports

Free accessResearch articleFirst published July, 2018

Mutation Spectrum and Genotype–Phenotype Analyses in a Pakistani Cohort With Hemophilia B

Muhammad Tariq Masood Khan, Arshi Naz, Jawad Ahmed [...]

Clinical and Applied Thrombosis/Hemostasis

Open accessResearch articleFirst published 2024

GNE Myopathy: Genotype – Phenotype Correlation and Disease Progression in an Indian Cohort

Dipti Baskar, Nishanth Reddy, Veeramani Preethish-Kumar [...]

Journal of Neuromuscular Diseases

Open accessResearch articleFirst published 2013

Evolutionary Modeling of Genotype-Phenotype Associations,and Application to primate coding and Non-coding mtDNA Rate Variation

Timothy D. O'Connor, Nicholas I. Mundy

Evolutionary Bioinformatics

Restricted accessResearch articleFirst published 2026

Enhancing Genotype–Phenotype Correlation in Pediatric PKU: A Comparative Analysis of Hotspot Mutations and Prediction Models Across 12 Chinese Regions

Li Zhang, Jie Ren, Jilong Su [...]

Genetic Testing and Molecular Biomarkers

Open accessResearch articleFirst published April, 2017

Molecular diagnosis of Chinese patients with 21-hydroxylase deficiency and analysis of genotype–phenotype correlations

Bo Zhang, Lin Lu, Zhaolin Lu

Journal of International Medical Research

Open accessResearch articleFirst published 2024

Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India

Ganaraja Valakunja Harikrishna, Hansashree Padmanabha, Kiran Polavarapu [...]

Journal of Neuromuscular Diseases

Free accessReview articleFirst published March, 2004

Cholinesterase: phenotyping and genotyping

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

Restricted accessResearch articleFirst published October, 2017

Primer in Genetics and Genomics,Article 5—Further Defining the Concepts of Genotype and Phenotype and Exploring Genotype–Phenotype Associations

Fay Wright, Kristen Fessele

Biological Research For Nursing

Open accessResearch articleFirst published 2010

A Penalized Mixture Model Approach in Genotype/Phenotype Association Analysis for Quantitative Phenotypes

Lang Li, Silvana Borges, Robarge D. Jason [...]

Cancer Informatics

Open accessResearch articleFirst published 2018

Same MSH2 Gene Mutation But Variable Phenotypes in 2 Families With Lynch Syndrome: Two Case Reports and Review of Genotype-Phenotype Correlation

Raffaella Liccardo, Marina De Rosa, Francesca Duraturo

Clinical Medicine Insights: Case Reports

Free accessResearch articleFirst published July, 2018

Mutation Spectrum and Genotype–Phenotype Analyses in a Pakistani Cohort With Hemophilia B

Muhammad Tariq Masood Khan, Arshi Naz, Jawad Ahmed [...]

Clinical and Applied Thrombosis/Hemostasis

Open accessResearch articleFirst published 2024

GNE Myopathy: Genotype – Phenotype Correlation and Disease Progression in an Indian Cohort

Dipti Baskar, Nishanth Reddy, Veeramani Preethish-Kumar [...]

Journal of Neuromuscular Diseases

Open accessResearch articleFirst published 2013

Evolutionary Modeling of Genotype-Phenotype Associations,and Application to primate coding and Non-coding mtDNA Rate Variation

Timothy D. O'Connor, Nicholas I. Mundy

Evolutionary Bioinformatics

Restricted accessResearch articleFirst published 2026

Enhancing Genotype–Phenotype Correlation in Pediatric PKU: A Comparative Analysis of Hotspot Mutations and Prediction Models Across 12 Chinese Regions

Li Zhang, Jie Ren, Jilong Su [...]

Genetic Testing and Molecular Biomarkers

Open accessResearch articleFirst published April, 2017

Molecular diagnosis of Chinese patients with 21-hydroxylase deficiency and analysis of genotype–phenotype correlations

Bo Zhang, Lin Lu, Zhaolin Lu

Journal of International Medical Research

Open accessResearch articleFirst published 2024

Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India

Ganaraja Valakunja Harikrishna, Hansashree Padmanabha, Kiran Polavarapu [...]

Journal of Neuromuscular Diseases

Free accessReview articleFirst published March, 2004

Cholinesterase: phenotyping and genotyping

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine