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Autosomal XX sex reversal caused by duplication of SOX9.
Huang B, Wang S, Ning Y, Lamb AN, Bartley J. Huang B, et al. Among authors: bartley j. Am J Med Genet. 1999 Dec 3;87(4):349-53. doi: 10.1002/(sici)1096-8628(19991203)87:4<349::aid-ajmg13>3.0.co;2-n. Am J Med Genet. 1999. PMID: 10588843
Partial hexasomy of chromosome 15.
Huang B, Bartley J. Huang B, et al. Among authors: bartley j. Am J Med Genet A. 2003 Sep 1;121A(3):277-80. doi: 10.1002/ajmg.a.20182. Am J Med Genet A. 2003. PMID: 12923871
Hemifacial microsomia and abnormal chromosome 22.
Hathout EH, Elmendorf E, Bartley J. Hathout EH, et al. Among authors: bartley j. Am J Med Genet. 1998 Feb 26;76(1):71-3. doi: 10.1002/(sici)1096-8628(19980226)76:1<71::aid-ajmg13>3.0.co;2-m. Am J Med Genet. 1998. PMID: 9508069
Deletions of different segments of the long arm of chromosome 4.
Mitchell JA, Packman S, Loughman WD, Fineman RM, Zackai E, Patil SR, Emanual B, Bartley JA, Hanson JW. Mitchell JA, et al. Among authors: bartley ja. Am J Med Genet. 1981;8(1):73-89. doi: 10.1002/ajmg.1320080110. Am J Med Genet. 1981. PMID: 7246608
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.
Lee B, Diaz GA, Rhead W, Lichter-Konecki U, Feigenbaum A, Berry SA, Le Mons C, Bartley JA, Longo N, Nagamani SC, Berquist W, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Cederbaum S, Wong D, Merritt JL 2nd, Schulze A, Vockley J, Kronn D, Zori R, Summar M, Milikien DA, Marino M, Coakley DF, Mokhtarani M; UCD Consortium, Scharschmidt BF. Lee B, et al. Among authors: bartley ja. Genet Med. 2015 Jul;17(7):561-8. doi: 10.1038/gim.2014.148. Epub 2014 Dec 11. Genet Med. 2015. PMID: 25503497 Free PMC article.
Linkage localization of Börjeson-Forssman-Lehmann syndrome.
Mathews KD, Ardinger HH, Nishimura DY, Buetow KH, Murray JC, Bartley JA. Mathews KD, et al. Among authors: bartley ja. Am J Med Genet. 1989 Dec;34(4):470-4. doi: 10.1002/ajmg.1320340403. Am J Med Genet. 1989. PMID: 2624254
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