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Case report

First published 2024

A novel variant of ATRX gene is potentially associated with alpha-thalassemia X-linked intellectual disability syndrome: Case report and literature review

Berrada Sarah, Tazzite Amal, Gazzaz Bouchaib [...]

Sage Open Medical Case Reports

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Research article

First published 2013-10

The Neurobiology of X-Linked Intellectual Disability

Silvia Bassani, Jonathan Zapata, Laura Gerosa [...]

The Neuroscientist

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Research article

First published 2017-05

Next-Generation Sequencing Reveals Novel Mutations in X-linked Intellectual Disability

Babylakshmi Muthusamy, Lakshmi Dhevi N. Selvan, Thong T. Nguyen [...]

OMICS: A Journal of Integrative Biology

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Research article

First published 2020-01

A Novel X-Linked Variant of IQSEC2 is Associated with Lennox-Gastaut Syndrome and Mild Intellectual Disability in Three Generations of a Korean Family

Min-Hyuk Choi, Jin Ok Yang, Ju-Sik Min [...]

Genetic Testing and Molecular Biomarkers

Open access

Case report

First published 2021-11

A novel de novo hemizygous ARHGEF9 mutation associated with severe intellectual disability and epilepsy: a case report

Tong Qiu, Qian Dai, Qiu Wang

Journal of International Medical Research

Open access

Case report

First published 2018-6-30

Novel SLC16A2 mutations in Chinese patients with Allan-Herndon-Dudley Syndrome

Jiaping Wang, Qingping Zhang, Shujie Yu [...]

Translational Science of Rare Diseases

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Other

First published 2009-09

Evaluation of clinical checklists for fragile X syndrome screening in Brazilian intellectually disabled males

Denise M. Christofolini, Eduardo M. Abbud, Monica V.N. Lipay [...]

Journal of Intellectual Disabilities

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Other

First published 2007-06

A Novel Mutation of the ARX Gene in a Male With Nonsyndromic Mental Retardation

Matthew M. Troester, Tamara Trachtenberg, Vinodh Narayanan

Journal of Child Neurology

Open access

Review article

First published 2015

Single-Nucleotide Mutations in FMR1 Reveal Novel Functions and Regulatory Mechanisms of the Fragile X Syndrome Protein FMRP

Joshua A. Suhl, Stephen T. Warren

Neuroscience Insights

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Research article

First published 1992-3

Fragile X Syndrome

Karen E. Santos

Remedial and Special Education

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