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Glycerol kinase deficiency: evidence for complexity in a single gene disorder.
Dipple KM, Zhang YH, Huang BL, McCabe LL, Dallongeville J, Inokuchi T, Kimura M, Marx HJ, Roederer GO, Shih V, Yamaguchi S, Yoshida I, McCabe ER. Dipple KM, et al. Among authors: zhang yh. Hum Genet. 2001 Jul;109(1):55-62. doi: 10.1007/s004390100545. Hum Genet. 2001. PMID: 11479736
DAX1 mutations map to putative structural domains in a deduced three-dimensional model.
Zhang YH, Guo W, Wagner RL, Huang BL, McCabe L, Vilain E, Burris TP, Anyane-Yeboa K, Burghes AH, Chitayat D, Chudley AE, Genel M, Gertner JM, Klingensmith GJ, Levine SN, Nakamoto J, New MI, Pagon RA, Pappas JG, Quigley CA, Rosenthal IM, Baxter JD, Fletterick RJ, McCabe ER. Zhang YH, et al. Am J Hum Genet. 1998 Apr;62(4):855-64. doi: 10.1086/301782. Am J Hum Genet. 1998. PMID: 9529340 Free PMC article.
Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.
Zhang YH, Huang BL, Anyane-Yeboa K, Carvalho JA, Clemons RD, Cole T, De Figueiredo BC, Lubinsky M, Metzger DL, Quadrelli R, Repaske DR, Reyno S, Seaver LH, Vaglio A, Van Vliet G, McCabe LL, McCabe ER, Phelan JK. Zhang YH, et al. Hum Mutat. 2001 Dec;18(6):547. doi: 10.1002/humu.1236. Hum Mutat. 2001. PMID: 11748852
Human ARX gene: genomic characterization and expression.
Ohira R, Zhang YH, Guo W, Dipple K, Shih SL, Doerr J, Huang BL, Fu LJ, Abu-Khalil A, Geschwind D, McCabe ER. Ohira R, et al. Among authors: zhang yh. Mol Genet Metab. 2002 Sep-Oct;77(1-2):179-88. doi: 10.1016/s1096-7192(02)00126-9. Mol Genet Metab. 2002. PMID: 12359145
237,073 results
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