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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

Retricted access

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

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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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

Free access

Case report

First published 2024-3

Critical Hypoglycemia in a Newborn with Pituitary Stalk Interruption Syndrome in Conjunction with 16p11.2 Deletion Syndrome and Duplication of Xp22.33/Yp11.32

Ekaterina Iausheva, Sara Mohamed, Elizabeth Littlejohn [...]

Journal of Neonatology

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Case report

First published 2013-3

Unusual Histologic Variant of a Low-Grade Fibromyxoid Sarcoma in a 3-Year-Old Boy with Complex Chromosomal Translocations Involving 7q34,10q11.2,and 16p11.2 and Rearrangement of the FUS Gene

Sheila M. Dobin, Vicki S. Malone, Lisa Lopez [...]

Pediatric and Developmental Pathology

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Other

First published 2018-3

Atypical Cyanotic Breath-Holding Spells in an Infant With 16p11.2 Microdeletion Syndrome

Jayalakshmi Bhat, Jose Martinez, Paul Maertens

Clinical Pediatrics

Open access

Research article

First published 2021-10

Analysis of gait synchrony and balance in neurodevelopmental disorders using computer vision techniques

Adel Ardalan, Natasha Yamane, Ashwini K Rao [...]

Health Informatics Journal

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Research article

First published 2020-01

New Insights into the Impact of Genome-Wide Copy Number Variations on Complex Congenital Heart Disease in Saudi Arabia

Majed J. Dasouki, Salma M. Wakil, Olfat Al-Harazi [...]

OMICS: A Journal of Integrative Biology

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

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