Sage Journals: Discover world-class research

Open access

Research article

First published 2025-5

Titinopathies: Phenotype – genotype heterogeneity in an Indian cohort

Dipti Baskar, Seena Vengalil, Kiran Polavarapu [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published 2018-7

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

Retricted access

Research article

First published 2005-03

Phenotypic Heterogeneity in Patients with Gaucher Disease and the N370S/V394L Genotype

Deborah Elstein, C. Ronald Scott, Marsha Zeigler [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Research article

First published 2014-01

Genotypic and Phenotypic Heterogeneity in the U3R Region of HIV Type 1 Subtype C

Jessica M. Mates, Surender B. Kumar, Jose Bazan [...]

AIDS Research and Human Retroviruses

Free access

Research article

First published 2019-2

First genotype-phenotype study reveals HLA-DQβ1 insertion heterogeneity in high-resolution manometry achalasia subtypes

Zuzana Vackova, Stefan Niebisch, Tania Triantafyllou [...]

United European Gastroenterology Journal

Open access

Research article

First published

Tracking Parkinson’s: Study Design and Baseline Patient Data

Naveed Malek, Diane M.A. Swallow, Katherine A. Grosset [...]

Journal of Parkinson’s Disease

Retricted access

Review article

First published 2013-10-10

Presenilin-1 Mutations in Alzheimer's Disease: An Update on Genotype-Phenotype Relationships

A.J. Larner

Journal of Alzheimer’s Disease

Open access

Review article

First published 2019

Clinical Presentation,Diagnosis and Treatment of TTR Amyloidosis

Mahima Kapoor, Alexander M. Rossor, Matilde Laura [...]

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 1997-4

Interfamilial and Intrafamilial Phenotypic Heterogeneity in Familial Alzheimer's Disease

Robert F. Lopez-Alberola, Warren W. Barker, Dylan G. Harwood [...]

Journal of Geriatric Psychiatry and Neurology

Retricted access

Case report

First published 2019-7

Noonan Syndrome Case Report: PTPN11 and Other Potential Genetic Factors Contributing to Lethal Hypertrophic Right Ventricular Cardiomyopathy

Elena Daoud, David Zwick

Pediatric and Developmental Pathology

Search results