Publications by authors named "Lisa Reali"

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Waardenburg syndrome type 1: a case report of a family with a intragenic PAX3 deletion with no hearing loss or heterochromia of iris.
Laura Macaskill, Lisa Reali, Swati Naik

Clin Dysmorphol· July 2024

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Xq21.1q21.31 Duplication in Two Male Siblings.
Charlotte Ann Sherlaw-Sturrock, Sarah Graham, Anita Morgan, Lisa Reali, Swati Naik

Mol Syndromol· February 2022

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Second-trimester prenatal diagnosis of Nager syndrome with a deletion including detected by chromosomal microarray.
Malgorzata Drozniewska, Mark D Kilby, Julie Vogt, Fiona Togneri, Elizabeth Quinlan-Jones, Lisa Reali

Clin Case Rep· March 2020

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CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing.
Josie Innes, Lisa Reali, Jill Clayton-Smith, Georgina Hall, Derek Hk Lim

J Med Genet· February 2018

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A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies.
Jonathan D J Labonne, Julie Vogt, Lisa Reali, Il-Keun Kong, Lawrence C Layman

Am J Med Genet A· December 2015

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