Atelosteogenesis type 2.

Tekijä Newbury-Ecob, R
Julkaistu 1998

Hypophosphatemic rickets after ifosfamide treatment.

Tekijä Newbury-Ecob, R. A., Barbor, P. R.
Julkaistu 1989

Manifesting heterozygosity in Norrie's disease?

Tekijä Woodruff, G, Newbury-Ecob, R, Plaha, D S, Young, I D
Julkaistu 1993

Pancreatic dysfunction in severe obesity

Tekijä Drake, A, Greenhalgh, L, Newbury-Ecob, R, Crowne, E, Shield, J
Julkaistu 2001

Congenital hereditary endothelial dystrophy associated with nail hypoplasia.

Tekijä Stirling, R, Pitts, J, Galloway, N R, Robson, K, Newbury-Ecob, R
Julkaistu 1994

Sex linked valvular dysplasia.

Tekijä Newbury-Ecob, R A, Zuccollo, J M, Rutter, N, Young, I D
Julkaistu 1993

Holt-Oram syndrome: a clinical genetic study.

Tekijä Newbury-Ecob, R A, Leanage, R, Raeburn, J A, Young, I D
Julkaistu 1996

Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, an...

Tekijä Kohlhase, J, Schubert, L, Liebers, M, Rauch, A, Becker, K, Mohammed, S, Newbury-Ecob, R, Reardon, W
Julkaistu 2003

Thrombocytopenia-absent radius syndrome: a clinical genetic study

Tekijä Greenhalgh, K, Howell, R, Bottani, A, Ancliff, P, Brunner, H, Verschuuren-Bemel..., C, Vernon, E, Brown, K, Newbury-Ecob, R
Julkaistu 2002

A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene.

Tekijä Terrett, J. A., Newbury-Ecob, R., Smith, N. M., Li, Q. Y., Garrett, C., Cox, P., Bonnet, D., Lyonnet, S., Munnich, A., Buckler, A. J., Brook, J. D.
Julkaistu 1996

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients

Tekijä Archer, H L, Evans, J, Edwards, S, Colley, J, Newbury‐Ecob, R, O'Callaghan, F, Huyton, M, O'Regan, M, Tolmie, J, Sampson, J, Clarke, A, Osborne, J
Julkaistu 2006

The mutation spectrum in Holt-Oram syndrome

Tekijä CROSS, S., CHING, Y., LI, Q. Y., ARMSTRONG-BUISSER..., L., SPRANGER, S., LYONNET, S., BONNET, D., PENTTINEN, M., JONVEAUX, P., LEHEUP, B., MORTIER, G., VAN RAVENSWAAIJ, C., GARDINER, C., BROOK, J, NEWBURY-ECOB, R.
Julkaistu 2000

Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth

Tekijä Steward, C G, Newbury-Ecob, R A, Hastings, R, Smithson, S F, Tsai-Goodman, B, Quarrell, O W, Kulik, W, Wanders, R, Pennock, M, Williams, M, Cresswell, J L, Gonzalez, I L, Brennan, P
Julkaistu 2010

The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy

Tekijä Bond, J, Flintoff, K, Higgins, J, Scott, S, Bennet, C, Parsons, J, Mannon, J, Jafri, H, Rashid, Y, Barrow, M, Trembath, R, Woodruff, G, Rossa, E, Lynch, S, Sheilds, J, Newbury-Ecob, R, Falconer, A, Holland, P, Cockburn, D, Karbani, G, Malik, S, Ahmed, M, Roberts, E, Taylor, G, Woods, C
Julkaistu 2005

De novo variants in CNOT3 cause a variable neurodevelopmental disorder

Tekijä Martin, R., Splitt, M., Genevieve, D., Aten, E., Collins, A., de Bie, C. I., Faivre, L., Foulds, N., Giltay, J., Ibitoye, R., Joss, S., Kennedy, J., Kerr, B., Kivuva, E., Koopmans, M., Newbury-Ecob, R., Jean-Marçais, N., Peeters, E. A. J., Smithson, S., Tomkins, S., Tranmauthem, F., Piton, A., van Haeringen, A.
Julkaisussa Eur J Hum Genet (2019)

Large-scale discovery of novel genetic causes of developmental disorders

Tekijä Fitzgerald, TW, Gerety, SS, Jones, WD, van Kogelenberg, M, King, DA, McRae, J, Morley, KI, Parthiban, V, Al-Turki, S, Ambridge, K, Barrett, DM, Bayzetinova, T, Clayton, S, Coomber, EL, Gribble, S, Jones, P, Krishnappa, N, Mason, LE, Middleton, A, Miller, R, Prigmore, E, Rajan, D, Sifrim, A, Tivey, AR, Ahmed, M, Akawi, N, Andrews, R, Anjum, U, Archer, H, Armstrong, R, Balasubramanian, M, Banerjee, R, Baralle, D, Batstone, P, Baty, D, Bennett, C, Berg, J, Bernhard, B, Bevan, AP, Blair, E, Blyth, M, Bohanna, D, Bourdon, L, Bourn, D, Brady, A, Bragin, E, Brewer, C, Brueton, L, Brunstrom, K, Bumpstead, SJ, Bunyan, DJ, Burn, J, Burton, J, Canham, N, Castle, B, Chandler, K, Clasper, S, Clayton-Smith, J, Cole, T, Collins, A, Collinson, MN, Connell, F, Cooper, N, Cox, H, Cresswell, L, Cross, G, Crow, Y, D’Alessandro, M, Dabir, T, Davidson, R, Davies, S, Dean, J, Deshpande, C, Devlin, G, Dixit, A, Dominiczak, A, Donnelly, C, Donnelly, D, Douglas, A, Duncan, A, Eason, J, Edkins, S, Ellard, S, Ellis, P, Elmslie, F, Evans, K, Everest, S, Fendick, T, Fisher, R, Flinter, F, Foulds, N, Fryer, A, Fu, B, Gardiner, C, Gaunt, L, Ghali, N, Gibbons, R, Gomes Pereira, SL, Goodship, J, Goudie, D, Gray, E, Greene, P, Greenhalgh, L, Harrison, L, Hawkins, R, Hellens, S, Henderson, A, Hobson, E, Holden, S, Holder, S, Hollingsworth, G, Homfray, T, Humphreys, M, Hurst, J, Ingram, S, Irving, M, Jarvis, J, Jenkins, L, Johnson, D, Jones, D, Jones, E, Josifova, D, Joss, S, Kaemba, B, Kazembe, S, Kerr, B, Kini, U, Kinning, E, Kirby, G, Kirk, C, Kivuva, E, Kraus, A, Kumar, D, Lachlan, K, Lam, W, Lampe, A, Langman, C, Lees, M, Lim, D, Lowther, G, Lynch, SA, Magee, A, Maher, E, Mansour, S, Marks, K, Martin, K, Maye, U, McCann, E, McConnell, V, McEntagart, M, McGowan, R, McKay, K, McKee, S, McMullan, DJ, McNerlan, S, Mehta, S, Metcalfe, K, Miles, E, Mohammed, S, Montgomery, T, Moore, D, Morgan, S, Morris, A, Morton, J, Mugalaasi, H, Murday, V, Nevitt, L, Newbury-Ecob, R, Norman, A, O'Shea, R, Ogilvie, C, Park, S, Parker, MJ, Patel, C, Paterson, J, Payne, S, Phipps, J, Pilz, DT, Porteous, D, Pratt, N, Prescott, K, Price, S, Pridham, A, Procter, A, Purnell, H, Ragge, N, Rankin, J, Raymond, L, Rice, D, Robert, L, Roberts, E, Roberts, G, Roberts, J, Roberts, P, Ross, A, Rosser, E, Saggar, A, Samant, S, Sandford, R, Sarkar, A, Schweiger, S, Scott, C, Scott, R, Selby, A, Seller, A, Sequeira, C, Shannon, N, Sharif, S, Shaw-Smith, C, Shearing, E, Shears, D, Simonic, I, Simpkin, D, Singzon, R, Skitt, Z, Smith, A, Smith, B, Smith, K, Smithson, S, Sneddon, L, Splitt, M, Squires, M, Stewart, F, Stewart, H, Suri, M, Sutton, V, Swaminathan, GJ, Sweeney, E, Tatton-Brown, K, Taylor, C, Taylor, R, Tein, M, Temple, IK, Thomson, J, Tolmie, J, Torokwa, A, Treacy, B, Turner, C, Turnpenny, P, Tysoe, C, Vandersteen, A, Vasudevan, P, Vogt, J, Wakeling, E, Walker, D, Waters, J, Weber, A, Wellesley, D, Whiteford, M, Widaa, S, Wilcox, S, Williams, D, Williams, N, Woods, G, Wragg, C, Wright, M, Yang, F, Yau, M, Carter, NP, Parker, M, Firth, HV, FitzPatrick, DR, Wright, CF, Barrett, JC, Hurles, ME
Julkaisussa Nature (2014)