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6q subtelomeric deletion: is there a recognizable syndrome?
Stevenson DA, Brothman AR, Carey JC, Chen Z, Dent KM, Bale JF Jr, Longo N. Stevenson DA, et al. Among authors: bale jf jr. Clin Dysmorphol. 2004 Apr;13(2):103-106. Clin Dysmorphol. 2004. PMID: 15057127
Sensorineural hearing loss in children.
Smith RJ, Bale JF Jr, White KR. Smith RJ, et al. Among authors: bale jf jr. Lancet. 2005 Mar 5-11;365(9462):879-90. doi: 10.1016/S0140-6736(05)71047-3. Lancet. 2005. PMID: 15752533 Review.
Mondini dysplasia and congenital cytomegalovirus infection.
Bauman NM, Kirby-Keyser LJ, Dolan KD, Wexler D, Gantz BJ, McCabe BF, Bale JF Jr. Bauman NM, et al. Among authors: bale jf jr. J Pediatr. 1994 Jan;124(1):71-8. doi: 10.1016/s0022-3476(94)70256-x. J Pediatr. 1994. PMID: 8283378
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.
Kobren SN, Baldridge D, Velinder M, Krier JB, LeBlanc K, Esteves C, Pusey BN, Züchner S, Blue E, Lee H, Huang A, Bastarache L, Bican A, Cogan J, Marwaha S, Alkelai A, Murdock DR, Liu P, Wegner DJ, Paul AJ; Undiagnosed Diseases Network; Sunyaev SR, Kohane IS. Kobren SN, et al. Genet Med. 2021 Jun;23(6):1075-1085. doi: 10.1038/s41436-020-01084-8. Epub 2021 Feb 12. Genet Med. 2021. PMID: 33580225 Free PMC article.
215 results