Sage Journals: Discover world-class research

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Research article

First published 2026

FLCN -Mutated Tumors in Smith-Magenis Syndrome: A Case Report of FLCN -Associated Pathogenesis

Émilie Pichette, Ali Shahini, Senthilkumar Kailasam [...]

International Journal of Surgical Pathology

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Review article

First published 2009-07

Smith-Magenis Syndrome With West Syndrome in a 5-Year-Old Girl: A Long-Term Follow-Up Study

Naomi Hino-Fukuyo, Kazuhiro Haginoya, Mitsugu Uematsu [...]

Journal of Child Neurology

Open access

Research article

First published 2019-9

Parental experiences with behavioural problems in Smith–Magenis syndrome: The need for syndrome-specific competence

Heidi Elisabeth Nag, Lise Beate Hoxmark, Terje Nærland

Journal of Intellectual Disabilities

Open access

Research article

First published 2025-1

Smith-Magenis syndrome with Dandy-Walker malformation in a 2-year-old girl: A case report

Wen-Tong Zhu, Lu-Xia Jiang, Yu-Mei Ma [...]

Journal of International Medical Research

Open access

Research article

First published 2021-12

Age-related changes in behavioural and emotional problems in Smith–Magenis syndrome measured with the Developmental Behavior Checklist

Heidi Elisabeth Nag, Terje Nærland

Journal of Intellectual Disabilities

Open access

Case report

First published 2023-9

A case of Smith–Magenis syndrome with skin manifestations caused by a novel locus mutation in the RAI1 gene

Xiaobin Wu, Li Zhang, Sisi Chen [...]

Journal of International Medical Research

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Review article

First published 2006-02

Topical Review: Epilepsy and Chromosomal Rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)]

Alica M. Goldman, Lorraine Potocki, Katherina Walz [...]

Journal of Child Neurology

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Research article

First published 2022-6

Effect of the use of an iPad on the attention span of a child with Smith Magenis Syndrome: A single case study

MT Rikken-Evers, KD Smith, PS Sterkenburg

Journal of Intellectual Disabilities

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Research article

First published 2006-8

A Case Study of Early Development in Smith-Magenis Syndrome

Deborah J. Fidler, Amy D. Philofsky, Susan L. Hepburn

Focus on Autism and Other Developmental Disabilities

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Research article

First published 2008-03

Diagnosing Smith–Magenis Syndrome and Duplication 17p11.2 Syndrome by RAI1 Gene Copy Number Variation Using Quantitative Real-Time PCR

Hoa T. Truong, Sara Solaymani-Kohal, Kevin R. Baker [...]

Genetic Testing and Molecular Biomarkers

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