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Gardner, RJM, Chow, CW, Simpson, I, Fink, AM, Meagher, SE, White, SM.
Severe fetal brain dysgenesis with focal calcification.
Prenatal Diagnosis
25(5)
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362 -364
2005
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Visootsak, J, Rosner, B, Dykens, E, Schwartz, C, Hahn, K, White, SM, Szeftel, R, Graham, JM.
Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6.
The Journal of Pediatrics
145(6)
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819 -825
2004
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White, SM, Thompson, EM, Kidd, A, Savarirayan, R, Turner, A, Amor, D, Delatycki, MB, Fahey, M, Baxendale, A, White, S, et al.
Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa–Kuroki) syndrome.
American Journal of Medical Genetics Part A
127A(2)
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118 -127
2004
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Turner, G, Lower, K, White, S, Delatycki, M, Lampe, A, Wright, M, Smith, JC, Kerr, B, Schelley, S, Hoyme, H, et al.
The clinical picture of the Börjeson–Forssman–Lehmann syndrome in males and heterozygous females with PHF6 mutations.
Clinical Genetics
65(3)
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226 -232
2004
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White, SM, Adès, LC, Amor, D, Liebelt, J, Bankier, A, Baker, E, Wilson, M, Savarirayan, R.
Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition.
Clinical Dysmorphology
12(2)
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109
2003
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