Atelosteogenesis type 2.

Yazar: Newbury-Ecob, R
Baskı/Yayın Bilgisi 1998

Hypophosphatemic rickets after ifosfamide treatment.

Yazar: Newbury-Ecob, R. A., Barbor, P. R.
Baskı/Yayın Bilgisi 1989

Manifesting heterozygosity in Norrie's disease?

Yazar: Woodruff, G, Newbury-Ecob, R, Plaha, D S, Young, I D
Baskı/Yayın Bilgisi 1993

Pancreatic dysfunction in severe obesity

Yazar: Drake, A, Greenhalgh, L, Newbury-Ecob, R, Crowne, E, Shield, J
Baskı/Yayın Bilgisi 2001

Congenital hereditary endothelial dystrophy associated with nail hypoplasia.

Yazar: Stirling, R, Pitts, J, Galloway, N R, Robson, K, Newbury-Ecob, R
Baskı/Yayın Bilgisi 1994

Sex linked valvular dysplasia.

Yazar: Newbury-Ecob, R A, Zuccollo, J M, Rutter, N, Young, I D
Baskı/Yayın Bilgisi 1993

Holt-Oram syndrome: a clinical genetic study.

Yazar: Newbury-Ecob, R A, Leanage, R, Raeburn, J A, Young, I D
Baskı/Yayın Bilgisi 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...

Yazar: Kohlhase, J, Schubert, L, Liebers, M, Rauch, A, Becker, K, Mohammed, S, Newbury-Ecob, R, Reardon, W
Baskı/Yayın Bilgisi 2003

Thrombocytopenia-absent radius syndrome: a clinical genetic study

Yazar: Greenhalgh, K, Howell, R, Bottani, A, Ancliff, P, Brunner, H, Verschuuren-Bemel..., C, Vernon, E, Brown, K, Newbury-Ecob, R
Baskı/Yayın Bilgisi 2002

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

Yazar: 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.
Baskı/Yayın Bilgisi 1996

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

Yazar: 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
Baskı/Yayın Bilgisi 2006

The mutation spectrum in Holt-Oram syndrome

Yazar: 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.
Baskı/Yayın Bilgisi 2000

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

Yazar: 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
Baskı/Yayın Bilgisi 2010

The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy

Yazar: 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
Baskı/Yayın Bilgisi 2005

De novo variants in CNOT3 cause a variable neurodevelopmental disorder

Yazar: 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.
Yayımlandı Eur J Hum Genet (2019)

Large-scale discovery of novel genetic causes of developmental disorders

Yazar: 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
Yayımlandı Nature (2014)