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Archives of Disease in Childhood. Education and Practice Edition|September 6, 2014
How to use… microarray comparative genomic hybridisation to investigate developmental disordersMira Kharbanda, John Tolmie, Shelagh JossJournal of Pediatric Endocrinology & Metabolism : JPEM|November 9, 2016
A case of 46,XX dysgenesis and marked tall stature; the need for caution in interpreting array comparative genomic hybridization (CGH)Vidya Kanamkote Narayanan, Mira Kharbanda, Malcolm DonaldsonEuropean Journal of Medical Genetics|May 3, 2016
Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndromeMira Kharbanda, Kaja Kannike, Anne Lampe, et al.European Journal of Medical Genetics|March 14, 2017
A further case of brain-lung-thyroid syndrome with deletion proximal to NKX2-1Mira Kharbanda, Pia Hermanns, Jeremy Jones, et al.Archives of Disease in Childhood. Education and Practice Edition|August 29, 2024
Challenging case of hypernatraemia in infancyKatherine Hawton, Louise Galloway, Matthew Harmer, et al.European Journal of Medical Genetics|March 3, 2017
Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutationMira Kharbanda, Amanda Hunter, Stephen Tennant, et al.Clinical and Experimental Dermatology|September 30, 2022
Pigmentary anomaly caused by mosaic 3q22.2q29 duplicationBeatriz Suarez Martinez-Falero, Anastasia Koutalopoulou, Andrew G L Douglas, et al.Cytogenetic and Genome Research|April 22, 2020
Directly Transmitted 12.3-Mb Deletion with a Consistent Phenotype in the Variable 11q21q22.3 RegionBeth Kirk, Mira Kharbanda, Mark S Bateman, et al.European Journal of Medical Genetics|December 5, 2016
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individualsMira Kharbanda, Daniela T Pilz, Susan Tomkins, et al.American Journal of Human Genetics|June 7, 2014
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformationsJoe Rainger, Davut Pehlivan, Stefan Johansson, et al.Pageof 2