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Open access

Research article

First published 2025

A Comparative Study on Copy Number Variation in Subtypes of Breast Phyllodes Tumors

Yuqiong Liu, Min Zhang, Huifen Huang [...]

Breast Cancer: Basic and Clinical Research

Free access

Research article

First published 2007-1

In Silico Analysis of P53 Using the P53 Knowledgebase: Mutations,Polymorphisms,MicroRNAs and Pathways

Yuchen Yang, Erwin Tantoso, Gek Huey Chua [...]

In Silico Biology

Open access

Case report

First published 2018-12-20

Presentation of a recurrent FMR1 missense mutation (R138Q) in an affected female

Jullianne Diaz, Cathy Scheiner, Eyby Leon

Translational Science of Rare Diseases

Open access

Case report

First published 2022

A Novel Dynamin 2 Mutation Causing Dominant Intermediate Charcot-Marie-Tooth Neuropathy: Case Report

Carmela V. San Luis, Coreen Schwartzlow, Kenkichi Nozaki [...]

Journal of Investigative Medicine High Impact Case Reports

Retricted access

Research article

First published 2018-08

Mutation Screening of the EDA Gene in Seven Chinese Families with X-Linked Hypohidrotic Ectodermal Dysplasia

Yanshan Liu, Yingzhi Huang, Rui Hua [...]

Genetic Testing and Molecular Biomarkers

Free access

Research article

First published 2007-01

Is there a role for PCR-SSCP among the methods for missense mutation detection of TP53 gene?

J Peltonen, J A Welsh, K H Vähäkangas

Human & Experimental Toxicology

Open access

Case report

First published 2017-9

Comprehensive Genomic Profiling of a Rare Thyroid Follicular Dendritic Cell Sarcoma

Jaime I. Davila, Jason S. Starr, Steven Attia [...]

Rare Tumors

Open access

Review article

First published 2024-03-05

Break Down of the Complexity and Inconsistency Between Levels of Matriglycan and Disease Phenotype in FKRP-Related Dystroglycanopathies: A Review and Model of Interpretation

Qi L. Lu, Molly C. Holbrook, Marcela P. Cataldi [...]

Journal of Neuromuscular Diseases

Retricted access

Case report

First published 2010-09

Case of a 10-Year-Old Boy with Hyper–Immunoglobulin M Immunodeficiency Caused by Activation-Induced Cytidine Deaminase Deficiency

Elena Lewis, Russell J. Hopp

Pediatric Allergy,Immunology,and Pulmonology

Retricted access

Research article

First published 2015-12

Driver Missense Mutation Identification Using Feature Selection and Model Fusion

Ahmed T. Soliman, Tao Meng, Shu-Ching Chen [...]

Journal of Computational Biology

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