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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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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

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Case report

First published 2021-4

Further Clinical Delineation of Chromosome 1q21Microduplication Syndrome: Robin Sequence as an Under-Recognized Association in Chromosomal Microdeletions and Duplications

Lauren K. Salinero, Natasha Shur, Albert K. Oh

The Cleft Palate Craniofacial Journal

Retricted access

Research article

First published 2019-7

Prenatal Diagnosis of BACs-on-Beads Assay in 3647 Cases of Amniotic Fluid Cells

Chunyan Li, Biliang Chen, Jiao Zheng [...]

Reproductive Sciences

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

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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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Research article

First published 2023-5

Classifying and evaluating fetuses with multicystic dysplastic kidney in etiologic studies

Meiying Cai, Chong Guo, Xinrui Wang [...]

Experimental Biology and Medicine

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Research article

First published 2014-12

Case Report

Jules C. Beal

Journal of Child Neurology

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Research article

First published 2018-9

Genetic Analysis of Syndromic and Nonsyndromic Patients With Craniosynostosis Identifies Novel Mutations in the TWIST1 and EFNB1 Genes

Despina Apostolopoulou, Olga S. Kaxira, Angeliki Hatzaki [...]

The Cleft Palate Craniofacial Journal

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