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Page 1
Biliary atresia in Kabuki syndrome.
McGaughran JM, Donnai D, Clayton-Smith J. McGaughran JM, et al. Am J Med Genet. 2000 Mar 13;91(2):157-8. Am J Med Genet. 2000. PMID: 10748418 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. Am J Med Genet. 1995 Apr 10;56(3):269-71. doi: 10.1002/ajmg.1320560306. Am J Med Genet. 1995. PMID: 7778587
Diagnosis of Smith-Lemli-Opitz syndrome.
McGaughran J, Donnai D, Clayton P, Mills K. McGaughran J, et al. N Engl J Med. 1994 Jun 9;330(23):1685-6; author reply 1687. N Engl J Med. 1994. PMID: 8177281 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. Nat Genet. 1997 Sep;17(1):18-9. doi: 10.1038/ng0997-18. Nat Genet. 1997. PMID: 9288091 Free article. No abstract available.
Further delineation of the KAT6B molecular and phenotypic spectrum.
Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destrée A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF; DDD study; Smith J, Clayton-Smith J. Gannon T, et al. Eur J Hum Genet. 2015 Sep;23(9):1165-70. doi: 10.1038/ejhg.2014.248. Epub 2014 Nov 26. Eur J Hum Genet. 2015. PMID: 25424711 Free PMC article.
114 results