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A clinical study of type 2 neurofibromatosis.
Evans DG, Huson SM, Donnai D, Neary W, Blair V, Newton V, Harris R. Evans DG, et al. Q J Med. 1992 Aug;84(304):603-18. Q J Med. 1992. PMID: 1484939
Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype.
Ryan AK, Bartlett K, Clayton P, Eaton S, Mills L, Donnai D, Winter RM, Burn J. Ryan AK, et al. J Med Genet. 1998 Jul;35(7):558-65. doi: 10.1136/jmg.35.7.558. J Med Genet. 1998. PMID: 9678700 Free PMC article.
A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity.
Evans DG, Huson SM, Donnai D, Neary W, Blair V, Teare D, Newton V, Strachan T, Ramsden R, Harris R. Evans DG, et al. J Med Genet. 1992 Dec;29(12):841-6. doi: 10.1136/jmg.29.12.841. J Med Genet. 1992. PMID: 1479598 Free PMC article.
Fetal phenytoin exposure, hypoplastic nails, and jitteriness.
D'Souza SW, Robertson IG, Donnai D, Mawer G. D'Souza SW, et al. Arch Dis Child. 1991 Mar;66(3):320-4. doi: 10.1136/adc.66.3.320. Arch Dis Child. 1991. PMID: 2025009 Free PMC article.
Comparison of genetic services with and without genetic registers: knowledge, adjustment, and attitudes about genetic counselling among probands referred to three genetic clinics.
Wright C, Kerzin-Storrar L, Williamson PR, Fryer A, Njindou A, Quarrell O, Donnai D, Craufurd D. Wright C, et al. J Med Genet. 2002 Dec;39(12):e84. doi: 10.1136/jmg.39.12.e84. J Med Genet. 2002. PMID: 12471222 Free PMC article.
Norrie disease resulting from a gene deletion: clinical features and DNA studies.
Donnai D, Mountford RC, Read AP. Donnai D, et al. J Med Genet. 1988 Feb;25(2):73-8. doi: 10.1136/jmg.25.2.73. J Med Genet. 1988. PMID: 3162283 Free PMC article.
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