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Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations.
Petrij F, Dauwerse HG, Blough RI, Giles RH, van der Smagt JJ, Wallerstein R, Maaswinkel-Mooy PD, van Karnebeek CD, van Ommen GJ, van Haeringen A, Rubinstein JH, Saal HM, Hennekam RC, Peters DJ, Breuning MH. Petrij F, et al. Among authors: rubinstein jh. J Med Genet. 2000 Mar;37(3):168-76. doi: 10.1136/jmg.37.3.168. J Med Genet. 2000. PMID: 10699051 Free PMC article.
SYMPTOMS FROM MILK.
WARKANY J, WEINSTEIN ED, SOUKUP SW, RUBINSTEIN JH, CURLESS MC. WARKANY J, et al. Among authors: rubinstein jh. Pediatrics. 1964 Feb;33:308-9. Pediatrics. 1964. PMID: 14117391 No abstract available.
Genotype-phenotype correlations in Rubinstein-Taybi syndrome.
Schorry EK, Keddache M, Lanphear N, Rubinstein JH, Srodulski S, Fletcher D, Blough-Pfau RI, Grabowski GA. Schorry EK, et al. Among authors: rubinstein jh. Am J Med Genet A. 2008 Oct 1;146A(19):2512-9. doi: 10.1002/ajmg.a.32424. Am J Med Genet A. 2008. PMID: 18792986
Tumors in Rubinstein-Taybi syndrome.
Miller RW, Rubinstein JH. Miller RW, et al. Among authors: rubinstein jh. Am J Med Genet. 1995 Mar 13;56(1):112-5. doi: 10.1002/ajmg.1320560125. Am J Med Genet. 1995. PMID: 7747773 Review.
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