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Research article

First published 2014

Reviewing Large LAMA2 Deletions and Duplications in Congenital Muscular Dystrophy Patients

Jorge Oliveira, Ana Gonçalves, Márcia E. Oliveira [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published 2009-10

Molecular Diagnosis of PMP22 Gene Duplications and Deletions: Comparison of Different Methods

Š Stangler Herodež, B Zagradišnik, A Erjavec Škerget [...]

Journal of International Medical Research

Retricted access

Research article

First published 2015-02

Duplication and Deletion of CFC1 Associated with Heterotaxy Syndrome

Ruixue Cao, Fei Long, Liping Wang [...]

DNA and Cell Biology

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

Brief report

First published 2000-03

Exon Deletions and Duplications in BRCA1 Detected by Semiquantitative PCR

M. D. Robinson, C. E. Chu, G. Turner [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Research article

First published 2008-12

Quantitative Fluorescent-PCR Detection of Sex Chromosome Aneuploidies and AZF Deletions/Duplications

Toso Plaseski, Predrag Noveski, Svetlana Trivodalieva [...]

Genetic Testing and Molecular Biomarkers

Free access

Case report

First published 2024-3

Critical Hypoglycemia in a Newborn with Pituitary Stalk Interruption Syndrome in Conjunction with 16p11.2 Deletion Syndrome and Duplication of Xp22.33/Yp11.32

Ekaterina Iausheva, Sara Mohamed, Elizabeth Littlejohn [...]

Journal of Neonatology

Retricted access

Research article

First published 2019-07

MLPA Analyses Reveal a Spectrum of Dystrophin Gene Deletions/Duplications in Pakistani Patients Suspected of Having Duchenne/Becker Muscular Dystrophy: A Retrospective Study

Zeeshan Ansar, Asghar Nasir, Tariq Moatter [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Research article

First published 2009-10

DCJ Path Formulation for Genome Transformations which Include Insertions,Deletions,and Duplications

Sophia Yancopoulos, Richard Friedberg

Journal of Computational Biology

Retricted access

Other

First published 2011-2

Congenital Hypotonia in a Child With a De Novo 22q13 Monosomy and 2pter Duplication: A Clinical and Molecular Genetic Study

Antonio Trabacca, Luciana Losito, Marta De Rinaldis [...]

Journal of Child Neurology

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