Mild phenotype and spontaneous improvement in a new form of perinatal hypophosphatasia with a novel recessive mutation in the TNSAP gene von Scurr, I.J, Burren, C.P, Soothill, P, Overton, T, Denbow, M, Grier, D, Gargan, M.F, Mornet, E, Smithson, S.F

Volltext

A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delay von Low, Karen J., James, M., Sharples, P.M., Eaton, M., Jenkinson, S., Study, D.D.D., Smithson, S.F.

Volltext

Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia von 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

Volltext

Diagnosis in dysmorphology: clues from the skin von Smithson, S.F., Winter, R.M.

Volltext

Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1 von Pagnamenta, A.T, Yu, J, Evans, J, Twiss, P, Offiah, A.C, Wafik, M, Mehta, S.G, Javaid, M.K, Smithson, S.F, Taylor, J.C

Volltext bestellen

A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project von Blakes, A.J.M, Wai, H.A, Davies, I, Moledina, H.E, Ruiz, A, Thomas, T, Bunyan, D, Thomas, N.S, Burren, C.P, Greenhalgh, L, Lees, M, Pichini, A, Smithson, S.F, Taylor Tavares, A.L, O’Donovan, P, Douglas, A.G.L, Whiffin, N, Baralle, D, Lord, J

Volltext bestellen

AIFM1‐associated X‐linked spondylometaphyseal dysplasia with cerebral hypomyelination von Edgerley, K, Barnicoat, A, Offiah, A.C, Calder, A.D, Mankad, K, Thomas, N.S, Bunyan, D.J, Williams, M, Buxton, C, Majumdar, A, Vijayakumar, K, Hilliard, T, Turner, J, Burren, C.P, Monsell, F, Smithson, S.F

Volltext bestellen

An association of multiple well differentiated liposarcomas, lipomatous tissue and hereditary retinoblastoma von O'Neill, J K, Stone, C A, Sarsfield, P, Smith, M, Smithson, S F, Silver, D, Devaraj, V S

Volltext

Siblings with Bohring-Opitz syndrome von Greenhalgh, K L, Newbury-Ecob, R A, Lunt, P W, Dolling, C L, Hargreaves, H, Smithson, S F

Volltext

Eastern Canadian Colorectal Cancer Consensus Conference 2017 von 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

Volltext