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Kabuki syndrome: international consensus diagnostic criteria.
Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N; Kabuki Syndrome Medical Advisory Board. Adam MP, et al. Among authors: chudley ae. J Med Genet. 2019 Feb;56(2):89-95. doi: 10.1136/jmedgenet-2018-105625. Epub 2018 Dec 4. J Med Genet. 2019. PMID: 30514738
Floating-Harbor syndrome and celiac disease.
Chudley AE, Moroz SP. Chudley AE, et al. Am J Med Genet. 1991 Mar 15;38(4):562-4. doi: 10.1002/ajmg.1320380413. Am J Med Genet. 1991. PMID: 2063899
Ulnar agenesis and endocardial fibroelastosis.
Marles SL, Chudley AE. Marles SL, et al. Among authors: chudley ae. Am J Med Genet. 1990 Oct;37(2):258-60. doi: 10.1002/ajmg.1320370219. Am J Med Genet. 1990. PMID: 2248295
Interstitial deletion of the long arm of chromosome 4.
Chudley AE, Verna MR, Ray M, Riordan D. Chudley AE, et al. Am J Med Genet. 1988 Nov;31(3):549-51. doi: 10.1002/ajmg.1320310309. Am J Med Genet. 1988. PMID: 3228137 No abstract available.
243 results