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Open access

Research article

First published 2024-11

Taking on the Titin: Muscle imaging as a diagnostic marker of biallelic TTN- related myopathy

LH Hayes, SB Neuhaus, S Donkervoort [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published 2005-6

Exploratory Analysis of Single Nucleotide Polymorphism (SNP) for Quantitative Traits

Mario A. Cleves

The Stata Journal: Promoting communications on statistics and Stata

Retricted access

Research article

First published 2025-8

TANGO-2 : A Rare Genetic Condition With Severe Clinical Presentation of Encephalopathy,Rhabdomyolysis,and Cardiac Rhythm Disorders in 2 Children

Khairunnisa Mukhtiar, Shahnaz Ibrahim, Quart-ul-Ain Khalid

Journal of Child Neurology

Retricted access

Research article

First published 2000-12

Family-based association studies

Hongyu Zhao

Statistical Methods in Medical Research

Retricted access

Research article

First published 2000-06

T cell receptor β chain genotyping in Australian relapsing-remitting multiple sclerosis patients

Marc McW Buhler, Bruce H Bennetts, Robert NS Heard [...]

Multiple Sclerosis Journal

Free access

Research article

First published 2005-01

Gene Frequencies of the Human Platelet Antigen-3in Different Populations

Viroj Wiwanitkit

Clinical and Applied Thrombosis/Hemostasis

Retricted access

Research article

First published 2024-12

PTBP1 is a potential indicator of disease progression in acute myeloid leukemia

Lina Xing, Xuefei Guo, Xiaolei Zhang [...]

Journal of Investigative Medicine

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Research article

First published 2023-12

Prevention of Portal-Tract Fibrosis in Zfyve19 −/− Mouse Model with Adeno-Associated Virus Vector Delivering ZFYVE19

Yanan Zhang, Dingyue Tang, Li Wang [...]

Human Gene Therapy

Retricted access

Research article

First published 2007-06

Rapid Detection of Sex Chromosomal Aneuploidies by QF-PCR: Application in 200 Men with Severe Oligozoospermia or Azoospermia

Flora Fodor, Eniko Kamory, Bela Csokay [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2004-12

The TDI-FP Assay in Human Y Chromosome SNP Haplotyping

C. Di Gaetano, F. Crobu, S. Guarrera [...]

Genetic Testing and Molecular Biomarkers

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