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A human case of SLC35A3-related skeletal dysplasia.
Edmondson AC, Bedoukian EC, Deardorff MA, McDonald-McGinn DM, Li X, He M, Zackai EH. Edmondson AC, et al. Among authors: he m. Am J Med Genet A. 2017 Oct;173(10):2758-2762. doi: 10.1002/ajmg.a.38374. Epub 2017 Aug 4. Am J Med Genet A. 2017. PMID: 28777481
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.
Ng BG, Buckingham KJ, Raymond K, Kircher M, Turner EH, He M, Smith JD, Eroshkin A, Szybowska M, Losfeld ME, Chong JX, Kozenko M, Li C, Patterson MC, Gilbert RD, Nickerson DA, Shendure J, Bamshad MJ; University of Washington Center for Mendelian Genomics; Freeze HH. Ng BG, et al. Among authors: he m. Am J Hum Genet. 2013 Apr 4;92(4):632-6. doi: 10.1016/j.ajhg.2013.03.012. Am J Hum Genet. 2013. PMID: 23561849 Free PMC article.
The role of sterol-C4-methyl oxidase in epidermal biology.
He M, Smith LD, Chang R, Li X, Vockley J. He M, et al. Biochim Biophys Acta. 2014 Mar;1841(3):331-5. doi: 10.1016/j.bbalip.2013.10.009. Epub 2013 Oct 18. Biochim Biophys Acta. 2014. PMID: 24144731 Free PMC article. Review.
ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination.
Shehata L, Simeonov DR, Raams A, Wolfe L, Vanderver A, Li X, Huang Y, Garner S, Boerkoel CF, Thurm A, Herman GE, Tifft CJ, He M, Jaspers NG, Gahl WA. Shehata L, et al. Among authors: he m. Am J Med Genet A. 2014 Nov;164A(11):2892-900. doi: 10.1002/ajmg.a.36709. Epub 2014 Sep 22. Am J Med Genet A. 2014. PMID: 25251875 Free PMC article.
A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies.
Zhang W, James PM, Ng BG, Li X, Xia B, Rong J, Asif G, Raymond K, Jones MA, Hegde M, Ju T, Cummings RD, Clarkson K, Wood T, Boerkoel CF, Freeze HH, He M. Zhang W, et al. Among authors: he m. Clin Chem. 2016 Jan;62(1):208-17. doi: 10.1373/clinchem.2015.243279. Epub 2015 Oct 1. Clin Chem. 2016. PMID: 26430078 Free PMC article.
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