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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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Research article

First published 2015-1

16p13.11 Microdeletion in a Patient With Hemiconvulsion-Hemiplegia-Epilepsy Syndrome

Christina I. Miteff, Robert L. Smith, Nicole L. Bain [...]

Journal of Child Neurology

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Research article

First published 2015-3

An Additional Patient With 3q27.3 Microdeletion Syndrome

Marco Castori, Irene Bottillo, Luigi Laino [...]

Journal of Child Neurology

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Research article

First published 2021-7

22q12.3-q13.1 microdeletion including SOX10 causes atypical Waardenburg syndrome

Wenqiu Zhang, Lirong Xiao, Bingjie Chen [...]

European Journal of Ophthalmology

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Research article

First published 2015-3

Cervicomedullary Spinal Stenosis and Ventriculomegaly in a Child With Developmental Delay due to Chromosome 16p12.1 Microdeletion Syndrome

Birendra Rai, Farhana Sharif

Journal of Child Neurology

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Research article

First published 2026-1

Phenotypic Heterogeneity of 16p11.2 Microdeletion Syndrome: 5 Case Reports

Sílvia Duarte Costa, Catarina Fraga, Nádia Rodrigues [...]

Journal of Child Neurology

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Research article

First published 2011-3

A Case of 3q29 Microdeletion Syndrome Involving Oral Cleft Inherited from a Nonaffected Mosaic Parent: Molecular Analysis and Ethical Implications

Aline L. Petrin, Sandra Daack-Hirsch, Jamie L'heureux [...]

The Cleft Palate Craniofacial Journal

Open access

Case report

First published 2022

A Unique Case of Aggressive Central Giant Cell Granuloma in a 10-Year-Old Boy With 16p13.11 Microdeletion Syndrome

Betty J. Shum, Mimi S. Kim, Katelyn Kondra [...]

Journal of Investigative Medicine High Impact Case Reports

Open access

Case report

First published 2024

Late onset psychosis in a case of 15q11.2 BP1-BP2 microdeletion ( Burnside–Butler ) syndrome: A case report and literature review

Soumitra Das, Vallabh Shet, Sanjana Palakodeti [...]

Sage Open Medical Case Reports

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Research article

First published 2007-1

Clinical Correlation of Chromosome 22q11.2 Fluorescent in Situ Hybridization Analysis and Velocardiofacial Syndrome

Albert K. Oh, Laura A. Workman, Granger B. Wong

The Cleft Palate Craniofacial Journal

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