Mild phenotype and spontaneous improvement in a new form of perinatal hypophosphatasia with a novel recessive mutation in the TNSAP gene
Scurr, I.J, Burren, C.P, Soothill, P, Overton, T, Denbow, M, Grier, D, Gargan, M.F, Mornet, E, Smithson, S.F
Published in Bone (New York, N.Y.) (01.07.2009)
Published in Bone (New York, N.Y.) (01.07.2009)
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A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delay
Low, Karen J., James, M., Sharples, P.M., Eaton, M., Jenkinson, S., Study, D.D.D., Smithson, S.F.
Published in Seizure (London, England) (01.03.2018)
Published in Seizure (London, England) (01.03.2018)
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Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia
Jackson, G C, Barker, F S, Jakkula, E, Czarny-Ratajczak, M, Mäkitie, O, Cole, W G, Wright, M J, Smithson, S F, Suri, M, Rogala, P, Mortier, G R, Baldock, C, Wallace, A, Elles, R, Ala-Kokko, L, Briggs, M D
Published in Journal of medical genetics (01.01.2004)
Published in Journal of medical genetics (01.01.2004)
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An association of multiple well differentiated liposarcomas, lipomatous tissue and hereditary retinoblastoma
O'Neill, J K, Stone, C A, Sarsfield, P, Smith, M, Smithson, S F, Silver, D, Devaraj, V S
Published in Sarcoma (01.01.2005)
Published in Sarcoma (01.01.2005)
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Siblings with Bohring-Opitz syndrome
Greenhalgh, K L, Newbury-Ecob, R A, Lunt, P W, Dolling, C L, Hargreaves, H, Smithson, S F
Published in Clinical dysmorphology (01.01.2003)
Published in Clinical dysmorphology (01.01.2003)
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