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First published 2010-6

A Novel Missense Mutation in LIS1 in a Child With Subcortical Band Heterotopia and Pachygyria Inherited From His Mildly Affected Mother With Somatic Mosaicism

Aleksandra Mineyko, Asif Doja, Julie Hurteau [...]

Journal of Child Neurology

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Research article

First published 2020-04

Nonautoimmune Hyperthyroidism Caused by a Somatic Mosaic GNAS Mutation Involving Part of the Thyroid Gland

Monica M. França, Robert L. Levine, Theodora Pappa [...]

Thyroid®

Open access

Research article

First published 2021

Approaches to Sequence the HTT CAG Repeat Expansion and Quantify Repeat Length Variation

Marc Ciosi, Sarah A. Cumming, Afroditi Chatzi [...]

Journal of Huntington's Disease

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Research article

First published 2025-9

Clinical and Genetic Characterization of 8 Patients with Syndromic Patterned Cutaneous Hypopigmentation: A Descriptive Study

Zhuo Ran Cai, Jean-François Soucy, Frédérique Tihy [...]

Journal of Cutaneous Medicine and Surgery

Open access

Article commentary

First published 2019

Mosaic APP Gene Recombination in Alzheimer’s Disease—What’s Next?

Ming-Hsiang Lee, Jerold Chun

Neuroscience Insights

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Case report

First published 2014-7

Mosaic Generalized Neurofibromatosis 1: Report of Two Cases

Jori Hardin, Allan Behm, Richard M. Haber

Journal of Cutaneous Medicine and Surgery

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Case report

First published 2022-3

Expending the Phenotypic Spectrum of Encephalocraniocutaneous Lipomatosis: About a Prenatal Case With Complete Autopsy

Julie Cattin, Justine Formet, Hervé Sartelet [...]

Pediatric and Developmental Pathology

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Case report

First published 2021-6

Bilateral Nephroblastic Tumors and a Complex Renal Vascular Anomaly in a Patient With a Mosaic RASopathy: Novel Histopathologic Features and Molecular Insights

Jonathan C Slack, Marie-Anne Bründler, Caitlin A Chang [...]

Pediatric and Developmental Pathology

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Case report

First published 2008-9

Androgenetic/Biparental Mosaicism in an Infant with Hepatic Mesenchymal Hamartoma and Placental Mesenchymal Dysplasia

Robyn C. Reed, Linda Beischel, Jonathan Schoof [...]

Pediatric and Developmental Pathology

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Research article

First published 2022-6

Postmortem Diagnosis of the Proteus Syndrome by Next Generation Sequencing of Affected Brain Tissue

Tiffany G. Baker, William B. Glen, Robert C. Wilson [...]

Academic Forensic Pathology

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