Publications by authors named "Kath Smith"

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Recommendations for occupational therapy interventions for adults with ADHD: a consensus statement from the UK adult ADHD network.
Marios Adamou, Philip Asherson, Muhammad Arif, Louise Buckenham, Sally Cubbin, Kath Smith

BMC Psychiatry· February 2021

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Phenotypic diversity and correlation with the genotypes of pseudohypoaldosteronism type 1.
Jaya Sujatha Gopal-Kothandapani, Arpan B Doshi, Kath Smith, Martin Christian, Talat Mushtaq

J Pediatr Endocrinol Metab· September 2019

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Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties.
Meena Balasubramanian, Nadja Fratzl-Zelman, Rory O'Sullivan, Mary Bull, Nicola Fa Peel, Kath Smith

Am J Med Genet A· July 2018

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Autism and heritable bone fragility: A true association?
Meena Balasubramanian, Rebecca Jones, Elizabeth Milne, Charlotte Marshall, Paul Arundel, Kath Smith

Bone Rep· June 2018

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Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability.
Schaida Schirwani, Emma Wakeling, Kath Smith, , Meena Balasubramanian

Am J Med Genet A· May 2018

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Clinical and molecular characterization of the first familial report of 1p32 microdeletion.
Schaida Schirwani, Kath Smith, Meena Balasubramanian

Clin Dysmorphol· April 2018

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Short case report: Xq23 deletion involving PAK3 as a novel cause of developmental delay in a 6-year-old boy.
Ashley Cartwright, Kath Smith, Meena Balasubramanian

Clin Dysmorphol· January 2017

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Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta.
Meena Balasubramanian, Ashley Cartwright, Kath Smith, Paul Arundel, Nicholas J Bishop

Am J Med Genet A· February 2016

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Inherited duplication of the short arm of chromosome 18p11.32-p11.31 associated with developmental delay/intellectual disability.
Meena Balasubramanian, Sivagamy Sithambaram, Kath Smith

Clin Dysmorphol· January 2016

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Clinical report: inherited deletion of chromosome 12q21.31q21.32 associated with a distinct phenotype and intellectual disability.
Rhoda S Akilapa, Kath Smith, Meena Balasubramanian

Clin Dysmorphol· October 2015

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A novel de novo 20q13.32-q13.33 deletion in a 2-year-old child with poor growth, feeding difficulties and low bone mass.
Meena Balasubramanian, Edward Atack, Kath Smith, Michael James Parker

J Hum Genet· June 2015

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Pneumothorax from subpleural blebs-a new association of sotos syndrome?
Meena Balasubramanian, Emma Shearing, Kath Smith, R Chavasse, R Taylor

Am J Med Genet A· May 2014

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Fluorescence in situ hybridisation (FISH) in histologically challenging conjunctival melanocytic lesions.
Hardeep Singh Mudhar, Kath Smith, Polly Talley, Abigail Whitworth, Neil Atkey

Br J Ophthalmol· January 2013

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Tigroid pattern of cerebral white matter involvement in chromosome 6p25 deletion syndrome with concomitant 5p15 duplication.
Meena Balasubramanian, Kath Smith, Steve Williams, Paul D Griffiths, Michael J Parker

J Pediatr Genet· December 2012

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Adaptation to culture of human embryonic stem cells and oncogenesis in vivo.
Duncan E C Baker, Neil J Harrison, Edna Maltby, Kath Smith, Harry D Moore

Nat Biotechnol· February 2007

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Multiplex fluorescence in situ hybridization identifies novel rearrangements of chromosomes 6, 15, and 18 in primary uveal melanoma.
Karen Sisley, Nicola Tattersall, Michael Dyson, Kath Smith, Hardeep S Mudhar

Exp Eye Res· September 2006

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Cellular differentiation hierarchies in normal and culture-adapted human embryonic stem cells.
Tariq Enver, Shamit Soneji, Chirag Joshi, John Brown, Francisco Iborra, Kath Smith

Hum Mol Genet· November 2005

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Risk ranking of bioaccessible metals from fly ash dissolved in simulated lung and gut fluids.
John Twining, Peter McGlinn, Elaine Loi, Kath Smith, Reto Gieré

Environ Sci Technol· October 2005

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Reprogramming in inter-species embryonal carcinoma-somatic cell hybrids induces expression of pluripotency and differentiation markers.
Marzena Flasza, Andrew F Shering, Kath Smith, Peter W Andrews, Polly Talley

Cloning Stem Cells· July 2004

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Recurrent gain of chromosomes 17q and 12 in cultured human embryonic stem cells.
Jonathan S Draper, Kath Smith, Paul Gokhale, Harry D Moore, Edna Maltby

Nat Biotechnol· January 2004

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