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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

Open access

Case report

First published 2019

De Novo Duplication in the CHD7 Gene Associated With Severe CHARGE Syndrome

Laura Pranckėnienė, Eglė Preikšaitienė, Lucie Gueneau [...]

Genomics Insights

Open access

Research article

First published 2024-8

Prenatal diagnosis and genetic counseling of a de novo 10q11.21q11.23 duplication associated with a normal phenotype

Liu Ouyang, Yan Li, Fangfang Liu [...]

Journal of International Medical Research

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

Free access

Case report

First published 2020

Muscular,Ocular and Brain Involvement Associated with a De Novo 11q13.2q14.1 Duplication: Contribution to the Differential Diagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy

Rocío N. Villar-Quiles, Marta Gomez-Garcia de la Banda, Annie Barois [...]

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2010-02

Clinical,Cytogenetic,and Molecular Characterization of a Girl with Some Clinical Features of Down Syndrome Resulting from a Pure Partial Trisomy 21q22.11-qter Due to a De Novo Intrachromosomal Duplication

Alicia Vaglio, Aubrey Milunsky, Andrea Quadrelli [...]

Genetic Testing and Molecular Biomarkers

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

Free access

Case report

First published 2015-9

A Rare De Novo Duplication of Chromosome 21q22.12⟶q22.3 Associated with Down Syndrome - A Case Report

R.N. Makroo, M. Chowdhry, M. Kumar [...]

Apollo Medicine

Retricted access

Research article

First published 2013-10

Infantile Spasms Are Associated With Abnormal Copy Number Variations

Vijay N. Tiwari, Senthil K. Sundaram, Harry T. Chugani [...]

Journal of Child Neurology

Retricted access

Research article

First published 2008-09

Multiple De Novo Mutations in the MECP2 Gene

David J. Bunyan, David O. Robinson

Genetic Testing and Molecular Biomarkers

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