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Search Results - Smithson, S.F
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Mild phenotype and spontaneous improvement in a new form of perinatal hypophosphatasia with a novel recessive mutation in the TNSAP gene
by
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.)
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A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delay
by
Low, Karen J.
,
James, M.
,
Sharples, P.M.
,
Eaton, M.
,
Jenkinson, S.
,
Study, D.D.D.
,
Smithson, S.F.
Published in
Seizure (London, England)
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Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia
by
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
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An association of multiple well differentiated liposarcomas, lipomatous tissue and hereditary retinoblastoma
by
O'Neill, J K
,
Stone, C A
,
Sarsfield, P
,
Smith, M
,
Smithson, S F
,
Silver, D
,
Devaraj, V S
Published in
Sarcoma
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Eastern Canadian Colorectal Cancer Consensus Conference 2017
by
McGee, S F
,
AlGhareeb, W
,
Ahmad, C H
,
Armstrong, D
,
Babak, S
,
Berry, S
,
Biagi, J
,
Booth, C
,
Bossé, D
,
Champion, P
,
Colwell, B
,
Finn, N
,
Goel, R
,
Gray, S
,
Green, J
,
Harb, M
,
Hyde, A
,
Jeyakumar, A
,
Jonker, D
,
Kanagaratnam, S
,
Kavan, P
,
MacMillan, A
,
Muinuddin, A
,
Patil, N
,
Porter, G
,
Powell, E
,
Ramjeesingh, R
,
Raza, M
,
Rorke, S
,
Seal, M
,
Servidio-Italiano, F
,
Siddiqui, J
,
Simms, J
,
Smithson, L
,
Snow, S
,
St-Hilaire, E
,
Stuckless, T
,
Tate, A
,
Tehfe, M
,
Thirlwell, M
,
Tsvetkova, E
,
Valdes, M
,
Vickers, M
,
Virik, K
,
Welch, S
,
Marginean, C
,
Asmis, T
Published in
Current oncology (Toronto)
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