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Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping.
Journal of Medical Genetics
48(12)
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White, SM, Hodgson, J.
Drawing attention to difference: Dilemmas in discussing dysmorphism with parents.
Journal of Paediatrics and Child Health
47(11)
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763 -765
2011
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White, SM, Fahey, M.
Report of a further family with dominant deafness‐onychodystrophy (DDOD) syndrome.
American Journal of Medical Genetics Part A
155(10)
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2512 -2515
2011
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Wright, EMMB, Suri, M, White, SM, de Leeuw, N, Silfhout, ATV, Stewart, F, McKee, S, Mansour, S, Connell, FC, Chopra, M, et al.
Pierpont syndrome: A collaborative study.
American Journal of Medical Genetics Part A
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Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome.
American Journal of Medical Genetics Part A
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