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List of works by Kath Smith

A novel de novo 20q13.32-q13.33 deletion in a 2-year-old child with poor growth, feeding difficulties and low bone mass

scientific article published on 12 March 2015

Adaptation to culture of human embryonic stem cells and oncogenesis in vivo

article

Autism and heritable bone fragility: A true association?

scientific article

Cellular differentiation hierarchies in normal and culture-adapted human embryonic stem cells

scientific article published on 13 September 2005

Clinical and molecular characterization of the first familial report of 1p32 microdeletion

scientific article published on 13 December 2017

Clinical report

scientific article published on 01 October 2015

Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta.

scientific article published on 15 October 2015

Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability.

scientific article published in May 2018

Fluorescence in situ hybridisation (FISH) in histologically challenging conjunctival melanocytic lesions

scientific article published on 08 November 2012

Inherited duplication of the short arm of chromosome 18p11.32-p11.31 associated with developmental delay/intellectual disability

scientific article published on 18 August 2015

Multiplex fluorescence in situ hybridization identifies novel rearrangements of chromosomes 6, 15, and 18 in primary uveal melanoma.

scientific article

Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties

scientific article published on 07 May 2018

Pneumothorax from subpleural blebs-a new association of sotos syndrome?

scientific article published on 23 January 2014

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

scholarly article

Recurrent gain of chromosomes 17q and 12 in cultured human embryonic stem cells

scientific article published on 7 December 2003

Reprogramming in inter-species embryonal carcinoma-somatic cell hybrids induces expression of pluripotency and differentiation markers

scientific article published on January 2003

Short case report: Xq23 deletion involving PAK3 as a novel cause of developmental delay in a 6-year-old boy.

scientific article published on 6 October 2016

Tigroid pattern of cerebral white matter involvement in chromosome 6p25 deletion syndrome with concomitant 5p15 duplication.

scientific article

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