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Aldred, MJ, Talacko, AA, Savarirayan, R, Murdolo, V, Mills, AE, Radden, BG, Alimov, A, Villablanca, A, Larsson, C.
Dental findings in a family with hyperparathyroidism–jaw tumor syndrome and a novel HRPT2 gene mutation.
Oral Surgery Oral Medicine Oral Pathology and Oral Radiology
101(2)
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212 -218
2006
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Tan, TY, Bankier, A, Slater, HR, Northrop, EL, Zacharin, M, Savarirayan, R.
A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome.
American Journal of Medical Genetics Part A
139A(3)
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216 -220
2005
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Kannu, P, Hayes, IM, Mandelstam, S, Donnan, L, Savarirayan, R.
Medial temporal lobe dysgenesis in hypochondroplasia.
American Journal of Medical Genetics Part A
138A(4)
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389 -391
2005
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McGillivray, G, Savarirayan, R, Cox, TC, Stojkoski, C, McNeil, R, Bankier, A, Bateman, JF, Roscioli, T, Gardner, RJM, Lamandé, SR.
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.
Journal of Medical Genetics
42(8)
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656
2005
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Tan, TY, McGillivray, G, Kornman, L, Fink, AM, Superti‐Furga, A, Bonafé, L, Francis, DI, Savarirayan, R.
Autosomal recessive omodysplasia: Early prenatal diagnosis and a possible clue to the gene location.
American Journal of Medical Genetics Part A
135A(3)
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324 -327
2005
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