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Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.
Rope AF, Wang K, Evjenth R, Xing J, Johnston JJ, Swensen JJ, Johnson WE, Moore B, Huff CD, Bird LM, Carey JC, Opitz JM, Stevens CA, Jiang T, Schank C, Fain HD, Robison R, Dalley B, Chin S, South ST, Pysher TJ, Jorde LB, Hakonarson H, Lillehaug JR, Biesecker LG, Yandell M, Arnesen T, Lyon GJ. Rope AF, et al. Among authors: carey jc. Am J Hum Genet. 2011 Jul 15;89(1):28-43. doi: 10.1016/j.ajhg.2011.05.017. Epub 2011 Jun 23. Am J Hum Genet. 2011. PMID: 21700266 Free PMC article.
Rubinstein-Taybi syndrome: a natural history study.
Stevens CA, Carey JC, Blackburn BL. Stevens CA, et al. Among authors: carey jc. Am J Med Genet Suppl. 1990;6:30-7. doi: 10.1002/ajmg.1320370605. Am J Med Genet Suppl. 1990. PMID: 2118775
Development of human palmar and digital flexion creases.
Stevens CA, Carey JC, Shah M, Bagley GP. Stevens CA, et al. Among authors: carey jc. J Pediatr. 1988 Jul;113(1 Pt 1):128-32. doi: 10.1016/s0022-3476(88)80546-8. J Pediatr. 1988. PMID: 3385521
409 results