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Open access

Research article

First published 2014-1

A Comparison of RNA-Seq and Exon Arrays for Whole Genome Transcription Profiling of the L5 Spinal Nerve Transection Model of Neuropathic Pain in the Rat

James R Perkins, Ana Antunes-Martins, Margarita Calvo [...]

Molecular Pain

Open access

Research article

First published 2012

Regulatory Mechanisms in Bone following Mechanical Loading

Sara M. Mantila Roosa, Charles H. Turner, Yunlong Liu

Gene Regulation and Systems Biology

Retricted access

Research article

First published 2009-06

Deletion of Exons 1a-2 of BRCA1 : A Rather Frequent Pathogenic Abnormality

Ans M.W. van den Ouweland, Winand N.M. Dinjens, Lambert C.J. Dorssers [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Research article

First published 2017-02

Design and Validation of a New MLPA-Based Assay for the Detection of RS1 Gene Deletions and Application in a Large Family with X-Linked Juvenile Retinoschisis

Annalisa Nicoletti, Lucia Ziccardi, Paolo Enrico Maltese [...]

Genetic Testing and Molecular Biomarkers

Open access

Case report

First published 2025-9

A homozygous single-nucleotide variant in TNNT1 causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case report

Milla Laarne, Ali Oghabian, Jenni Laitila [...]

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2001-03

Sequence,Organization,Chromosomal Localization,and Alternative Splicing of the Human Serine Protease Inhibitor Gene Hurpin ( PI13 ) Which Is Upregulated in Psoriasis

Harry F. Abts, Thomas Welss, Sibylle Scheuring [...]

DNA and Cell Biology

Retricted access

Research article

First published 2011-09

A Novel Pathogenic Nonsense Triple-Nucleotide Mutation in the Low-Density Lipoprotein Receptor Gene and Its Clinical Correlation with Familial Hypercholesterolemia

Muhammad Ajmal, Waqas Ahmed, Naveed Akhtar [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Research article

First published 2013-10

Detection of PAX2 Deletions and Duplications Using Multiplex Ligation-Dependent Probe Amplification

Amy B. Karger, Jon D. Wilson, Matthew Bower [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Research article

First published 1996-06

DNA-Based HLA Typing for Cord Blood Stem Cell Transplantation

Elizabeth A. Trachtenberg, Henry A. Erlich

Stem Cells and Development

Open access

Research article

First published 2018

An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders

Lydia Sagath, Vilma-Lotta Lehtokari, Salla Välipakka [...]

Journal of Neuromuscular Diseases

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