Sage Journals: Discover world-class research

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Research article

First published 2015-4

Mosaic 22q11.2 Deletion and Tetralogy of Fallot With Absent Pulmonary Valve

Sudesh Prabhu, Bryan Jenny, Harraway James [...]

World Journal for Pediatric and Congenital Heart Surgery

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Research article

First published 2014-02

Germinal Mosaicism in a Sample of Families with Duchenne/Becker Muscular Dystrophy with Partial Deletions in the DMD Gene

Cesárea Bermúdez-López, Benilde García-de Teresa, Ariadna González-del Angel [...]

Genetic Testing and Molecular Biomarkers

Open access

Case report

First published 2013-10

Clinical Correlates of Autosomal Chromosomal Abnormalities in an Electronic Medical Record–Linked Genome-Wide Association Study

Hayan Jouni, Khader Shameer, Yan W. Asmann [...]

Journal of Investigative Medicine High Impact Case Reports

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Case report

First published 2020-10

Gender-Discordant Monochorionic-Diamniotic Twins Both With 45,X/46,X,Idic(Y) Mosaicism and a Novel Deletion Within the TBC1D5 Gene

Arati A Inamdar, Michael Diamond, Wendy Shertz

Pediatric and Developmental Pathology

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Research article

First published 2025-05

Utilizing Long-Read Sequencing for Haplotype Construction and Prevention of Autosomal Dominant Polycystic Kidney Disease Transmission in Mosaicism Family

Wu Zubo, Jie Liu, Yi Liu [...]

DNA and Cell Biology

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Research article

First published 2004-09

X-Linked Menkes Disease: First Documented Report of Germ-Line Mosaicism

Lena Poulsen, Lisbeth Birk M⊘ller, Katie Plunkett [...]

Genetic Testing and Molecular Biomarkers

Open access

Research article

First published 2024-2

De novo germline pathogenic variant in Lynch Syndrome: A rare event or the tip of the iceberg?

Clorinda Brignola, Sara Volorio, Giovanna De Vecchi [...]

Tumori Journal

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Research article

First published 2005-09

Constitutional and Somatic RB1 Mutation Spectrum in Nonfamilial Unilateral and Bilateral Retinoblastoma in India

M.N. Bamne, P.N. Ghule, J. Jose [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2013-1

Two Siblings With Similar Phenotypes

F. Irsel Tezer, Dilek Aktas, Mehmet Alikasifoglu [...]

Clinical EEG and Neuroscience

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Research article

First published 2014-3

Activation of the Chromosome 19q MicroRNA Cluster in Sporadic and Androgenetic-Biparental Mosaicism–Associated Hepatic Mesenchymal Hamartoma

Raj P. Kapur, Jessica E. Berry, Karen D. Tsuchiya [...]

Pediatric and Developmental Pathology

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