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Research article

First published 2012-5

Microdeletion and Microduplication Syndromes

Anja Weise, Kristin Mrasek, Elisabeth Klein [...]

Journal of Histochemistry & Cytochemistry

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Case report

First published 2015-5

17p13.3 Microduplication,a Potential Novel Genetic Locus for Nonsyndromic Bilateral Cleft Lip and Palate

Rita M. Ibitoye, Joanna Roberts, Tim Goodacre [...]

The Cleft Palate Craniofacial Journal

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Research article

First published 2025-10

Beyond the Copy Number Differences: The Phenotypic Diversity of Children With 15q11.2 Microdeletions and Microduplications

Gunce Basarir, Irmak Erdogan, Berk Ozyilmaz [...]

Journal of Child Neurology

Open access

Research article

First published 2025-7

Neonatal seizures associated with a rare familial 16p11.2 microduplication: A case report

Jun Chen, Shaohua Bi, Juan Wang [...]

Journal of International Medical Research

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Research article

First published 2015-12

The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles

Mary Kusenda, Vladimir Vacic, Dheeraj Malhotra [...]

Journal of Child Neurology

Retricted access

Case report

First published 2016-3

Novel Association of Odontogenic Myxoma with Constitutional Chromosomal 1q21 Microduplication: Case Report and Review of the Literature

Alejandro Best-Rocha, Kalyani Patel, John Hicks [...]

Pediatric and Developmental Pathology

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Review article

First published 2011-8

A Novel Sporadic 614-Kb Duplication of the 22q11.2 Chromosome in a Child With Amyoplasia

Teerin Liewluck, Stephanie J. Sacharow, YaoShan Fan [...]

Journal of Child Neurology

Open access

Case report

First published 2022-9

Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of 18q12.3 encompassing SETBP1

Yaqing Zhou, Yan Quan, Yijun Wu [...]

Journal of International Medical Research

Open access

Research article

First published 2010

Design,Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities

Stefano Gambardella, Erika Ciabattoni, Francesca Motta [...]

Genomics Insights

Open access

Research article

First published 2022-7

Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of chromosome 16p11.2

Meihua Li, Linlin Liu, Yijun Wu [...]

Journal of International Medical Research

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