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White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene.
Dev Med Child Neurol. 2010 May;52(5):475-82. doi: 10.1111/j.1469-8749.2009.03471.x. Epub 2009 Oct 7.
Dev Med Child Neurol. 2010.
PMID: 19811520
Free PMC article.
Deficiency of the cyclin-dependent kinase inhibitor, CDKN1B, results in overgrowth and neurodevelopmental delay.
Grey W, Izatt L, Sahraoui W, Ng YM, Ogilvie C, Hulse A, Tse E, Holic R, Yu V.
Grey W, et al.
Hum Mutat. 2013 Jun;34(6):864-8. doi: 10.1002/humu.22314. Epub 2013 Apr 12.
Hum Mutat. 2013.
PMID: 23505216
Free PMC article.
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Growth reference charts for children with hypochondroplasia.
Cheung MS, Cole TJ, Arundel P, Bridges N, Burren CP, Cole T, Davies JH, Hagenäs L, Högler W, Hulse A, Mason A, McDonnell C, Merker A, Mohnike K, Sabir A, Skae M, Rothenbuhler A, Warner J, Irving M.
Cheung MS, et al.
Am J Med Genet A. 2024 Feb;194(2):243-252. doi: 10.1002/ajmg.a.63431. Epub 2023 Oct 9.
Am J Med Genet A. 2024.
PMID: 37814549
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Screening for congenital hypothyroidism.
Hulse AJ, Grant DB, Jackson D, Clayton BE.
Hulse AJ, et al.
Lancet. 1979 Nov 3;2(8149):968-9. doi: 10.1016/s0140-6736(79)92671-0.
Lancet. 1979.
PMID: 91068
No abstract available.
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