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List of works by Mira Kharbanda

A case of 46,XX dysgenesis and marked tall stature; the need for caution in interpreting array comparative genomic hybridization (CGH).

scientific article published on 8 November 2016

A further case of brain-lung-thyroid syndrome with deletion proximal to NKX2-1.

scientific article published on 7 March 2017

Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals

scientific article published on 30 November 2016

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

scientific article published in 2022

How to use… microarray comparative genomic hybridisation to investigate developmental disorders.

scientific article published on 04 September 2014

Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation.

scientific article

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations

scientific article

Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome

scientific article published on 28 April 2016

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

scientific article published on 10 January 2019

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