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Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Genet Med. 2021 Feb;23(2):384-395. doi: 10.1038/s41436-020-00993-y. Epub 2020 Nov 11.
Genet Med. 2021.
PMID: 33173220
Free PMC article.
Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.
Lam C, Golas GA, Davids M, Huizing M, Kane MS, Krasnewich DM, Malicdan MCV, Adams DR, Markello TC, Zein WM, Gropman AL, Lodish MB, Stratakis CA, Maric I, Rosenzweig SD, Baker EH, Ferreira CR, Danylchuk NR, Kahler S, Garnica AD, Bradley Schaefer G, Boerkoel CF, Gahl WA, Wolfe LA.
Lam C, et al. Among authors: bradley schaefer g.
Mol Genet Metab. 2015 Jun-Jul;115(2-3):128-140. doi: 10.1016/j.ymgme.2015.04.007. Epub 2015 May 1.
Mol Genet Metab. 2015.
PMID: 25943031
Free PMC article.
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Multi-tiered analysis of brain injury in neonates with congenital heart disease.
Mulkey SB, Swearingen CJ, Melguizo MS, Schmitz ML, Ou X, Ramakrishnaiah RH, Glasier CM, Bradley Schaefer G, Bhutta AT.
Mulkey SB, et al. Among authors: bradley schaefer g.
Pediatr Cardiol. 2013;34(8):1772-84. doi: 10.1007/s00246-013-0712-6. Epub 2013 May 8.
Pediatr Cardiol. 2013.
PMID: 23652966
Free PMC article.
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