Sage Journals: Discover world-class research

Open access

Case report

First published 2023

A de novo chromosome 9p duplication in a female child with short stature and developmental delay

Tinatin Tkemaladze, Kakha Bregvadze, Nikoloz Papiashvili [...]

Sage Open Medical Case Reports

Retricted access

Other

First published 2001-12

Pervasive Developmental Disorders and GABAergic System in Patients With Inverted Duplicated Chromosome 15

Renato Borgatti, Paolo Piccinelli, Davide Passoni [...]

Journal of Child Neurology

Retricted access

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 2006-12

De Novo Duplication of Chromosome 13(q32-q34) in a Child With Developmental Delay

Donatella Milani, Stefano D'Arrigo, Silvana Guerneri [...]

Journal of Child Neurology

Retricted access

Research article

First published 2017-02

Sorting by Cuts,Joins,and Whole Chromosome Duplications

Ron Zeira, Ron Shamir

Journal of Computational Biology

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

Research article

First published 2010-8

Duplication of Subcytoband 11E2 of Chromosome 11 Is Regularly Associated with Accelerated Tumor Development in v-abl/myc –Induced Mouse Plasmacytomas

Francis Wiener, Ann-Kristin Schmälter, Michael R.A. Mowat [...]

Genes & Cancer

Retricted access

Research article

First published 2004-9

Cleft Palate in a Newborn with Duplication 2(q13q23)

Sharon L. Wenger, Ona C. Bleigh, Marybeth Hummel

The Cleft Palate Craniofacial Journal

Retricted access

Research article

First published 2014-03

Rapid Prenatal Diagnosis of Common Numerical Chromosomal Abnormalities by High-Resolution Melting Analysis of Segmental Duplications

Yulin Zhou, Li Xiao, Qichang Wu [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Research article

First published 2004-09

Evidence for Duplication of the Human Defensin Gene DEFB4 in Chromosomal Region 8p22–23 and Implications for the Analysis of SNP Allele Distribution

Michele Boniotto, Mario Ventura, Joyce Eskdale [...]

Genetic Testing and Molecular Biomarkers

Search results