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Tracheomalacia in Hallermann-Streiff syndrome.
Salbert BA, Stevens CA, Spence JE. Salbert BA, et al. Am J Med Genet. 1991 Dec 15;41(4):521-3. doi: 10.1002/ajmg.1320410429. Am J Med Genet. 1991. PMID: 1776648 Review.
Partial trisomy 19p: case report and natural history.
Salbert BA, Solomon M, Spence JE, Jackson-Cook C, Brown J, Bodurtha J. Salbert BA, et al. Clin Genet. 1992 Mar;41(3):143-6. doi: 10.1111/j.1399-0004.1992.tb03651.x. Clin Genet. 1992. PMID: 1563088
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
Moreno-De-Luca D; SGENE Consortium; Mulle JG; Simons Simplex Collection Genetics Consortium; Kaminsky EB, Sanders SJ; GeneSTAR; Myers SM, Adam MP, Pakula AT, Eisenhauer NJ, Uhas K, Weik L, Guy L, Care ME, Morel CF, Boni C, Salbert BA, Chandrareddy A, Demmer LA, Chow EW, Surti U, Aradhya S, Pickering DL, Golden DM, Sanger WG, Aston E, Brothman AR, Gliem TJ, Thorland EC, Ackley T, Iyer R, Huang S, Barber JC, Crolla JA, Warren ST, Martin CL, Ledbetter DH. Moreno-De-Luca D, et al. Among authors: salbert ba. Am J Hum Genet. 2010 Nov 12;87(5):618-30. doi: 10.1016/j.ajhg.2010.10.004. Epub 2010 Nov 4. Am J Hum Genet. 2010. PMID: 21055719 Free PMC article.
POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.
Lessel D, Hisama FM, Szakszon K, Saha B, Sanjuanelo AB, Salbert BA, Steele PD, Baldwin J, Brown WT, Piussan C, Plauchu H, Szilvássy J, Horkay E, Högel J, Martin GM, Herr AJ, Oshima J, Kubisch C. Lessel D, et al. Among authors: salbert ba. Hum Mutat. 2015 Nov;36(11):1070-9. doi: 10.1002/humu.22833. Epub 2015 Aug 6. Hum Mutat. 2015. PMID: 26172944 Free PMC article.
18 results