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Atypical clinical presentation of ataxia telangiectasia.
Willems PJ, Van Roy BC, Kleijer WJ, Van der Kraan M, Martin JJ. Willems PJ, et al. Among authors: van der kraan m, van roy bc. Am J Med Genet. 1993 Mar 15;45(6):777-82. doi: 10.1002/ajmg.1320450624. Am J Med Genet. 1993. PMID: 8456862 Review.
Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.
Kroos MA, Van der Kraan M, Van Diggelen OP, Kleijer WJ, Reuser AJ, Van den Boogaard MJ, Ausems MG, Ploos van Amstel HK, Poenaru L, Nicolino M, et al. Kroos MA, et al. Among authors: van den boogaard mj, van diggelen op, van der kraan m. J Med Genet. 1995 Oct;32(10):836-7. doi: 10.1136/jmg.32.10.836-a. J Med Genet. 1995. PMID: 8558570 Free PMC article. No abstract available.
25 results