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Diagnosis of Smith-Lemli-Opitz syndrome.
McGaughran J, Donnai D, Clayton P, Mills K. McGaughran J, et al. Among authors: donnai d. N Engl J Med. 1994 Jun 9;330(23):1685-6; author reply 1687. N Engl J Med. 1994. PMID: 8177281 No abstract available.
Prenatal diagnosis of Smith-Lemli-Opitz syndrome.
McGaughran JM, Clayton PT, Mills KA, Rimmer S, Moore L, Donnai D. McGaughran JM, et al. Among authors: donnai d. Am J Med Genet. 1995 Apr 10;56(3):269-71. doi: 10.1002/ajmg.1320560306. Am J Med Genet. 1995. PMID: 7778587
Biliary atresia in Kabuki syndrome.
McGaughran JM, Donnai D, Clayton-Smith J. McGaughran JM, et al. Among authors: donnai d. Am J Med Genet. 2000 Mar 13;91(2):157-8. Am J Med Genet. 2000. PMID: 10748418 No abstract available.
Mutations in CDMP1 cause autosomal dominant brachydactyly type C.
Polinkovsky A, Robin NH, Thomas JT, Irons M, Lynn A, Goodman FR, Reardon W, Kant SG, Brunner HG, van der Burgt I, Chitayat D, McGaughran J, Donnai D, Luyten FP, Warman ML. Polinkovsky A, et al. Among authors: donnai d. Nat Genet. 1997 Sep;17(1):18-9. doi: 10.1038/ng0997-18. Nat Genet. 1997. PMID: 9288091 Free article. No abstract available.
Anterior segment dysgenesis in mosaic Turner syndrome.
Lloyd IC, Haigh PM, Clayton-Smith J, Clayton P, Price DA, Ridgway AE, Donnai D. Lloyd IC, et al. Among authors: donnai d. Br J Ophthalmol. 1997 Aug;81(8):639-43. doi: 10.1136/bjo.81.8.639. Br J Ophthalmol. 1997. PMID: 9349149 Free PMC article.
259 results