Smith K - Search Results

1

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

Balasubramanian M, Atack E, Smith K, Parker MJ. Balasubramanian M, et al. Among authors: smith k. J Hum Genet. 2015 Jun;60(6):313-7. doi: 10.1038/jhg.2015.22. Epub 2015 Mar 12. J Hum Genet. 2015. PMID: 25761574

2

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

Balasubramanian M, Shearing E, Smith K, Chavasse R, Taylor R, Tatton-Brown K, Primhak R, Ugonna K, Parker MJ. Balasubramanian M, et al. Among authors: smith k. Am J Med Genet A. 2014 May;164A(5):1222-6. doi: 10.1002/ajmg.a.36406. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24458726

3

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

Cartwright A, Smith K, Balasubramanian M. Cartwright A, et al. Among authors: smith k. Clin Dysmorphol. 2017 Jan;26(1):38-40. doi: 10.1097/MCD.0000000000000154. Clin Dysmorphol. 2017. PMID: 27753653 Free article. No abstract available.

4

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

Schirwani S, Smith K, Balasubramanian M. Schirwani S, et al. Among authors: smith k. Clin Dysmorphol. 2018 Apr;27(2):36-41. doi: 10.1097/MCD.0000000000000209. Clin Dysmorphol. 2018. PMID: 29240611 Free article.

5

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

Schirwani S, Wakeling E, Smith K; DDD Study; Balasubramanian M. Schirwani S, et al. Among authors: smith k. Am J Med Genet A. 2018 May;176(5):1238-1244. doi: 10.1002/ajmg.a.38683. Am J Med Genet A. 2018. PMID: 29681091 Review.

6

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

Balasubramanian M, Smith K, Williams S, Griffiths PD, Parker MJ, Mordekar SR. Balasubramanian M, et al. Among authors: smith k. J Pediatr Genet. 2012 Dec;1(4):247-52. doi: 10.3233/PGE-12040. J Pediatr Genet. 2012. PMID: 27625832 Free PMC article.

7

Clinical report: inherited deletion of chromosome 12q21.31q21.32 associated with a distinct phenotype and intellectual disability.

Akilapa RS, Smith K, Balasubramanian M. Akilapa RS, et al. Among authors: smith k. Clin Dysmorphol. 2015 Oct;24(4):151-5. doi: 10.1097/MCD.0000000000000096. Clin Dysmorphol. 2015. PMID: 26267847 No abstract available.

8

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

Balasubramanian M, Sithambaram S, Smith K. Balasubramanian M, et al. Among authors: smith k. Clin Dysmorphol. 2016 Jan;25(1):19-22. doi: 10.1097/MCD.0000000000000097. Clin Dysmorphol. 2016. PMID: 26287558

9

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

Balasubramanian M, Cartwright A, Smith K, Arundel P, Bishop NJ. Balasubramanian M, et al. Among authors: smith k. Am J Med Genet A. 2016 Feb;170A(2):476-481. doi: 10.1002/ajmg.a.37431. Epub 2015 Oct 15. Am J Med Genet A. 2016. PMID: 26471105

10

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

Balasubramanian M, Fratzl-Zelman N, O'Sullivan R, Bull M, Fa Peel N, Pollitt RC, Jones R, Milne E, Smith K, Roschger P, Klaushofer K, Bishop NJ. Balasubramanian M, et al. Among authors: smith k. Am J Med Genet A. 2018 Jul;176(7):1578-1586. doi: 10.1002/ajmg.a.38830. Epub 2018 May 7. Am J Med Genet A. 2018. PMID: 29736964 Free article.

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