Showing 1 - 4 results of 4 for search 'van Kogelenberg, M', query time: 0.03s
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A new acro-osteolysis syndrome caused by duplications including PTHLH. by Gray, M, van Kogelenberg, M, Beddow, R, Morgan, T, Wordsworth, P, Shears, D, Robertson, S, Hurst, J
Published 2014Journal article -
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Catalysing collaborative research for rare genetic disorders in the UK through the Deciphering Developmental Disorders (DDD) study by Firth, H, van Kogelenberg, M, Fitzgerald, T, Tivey, A, Clayton, S, Gribble, S, Bragin, E, Barrett, J, Fitzpatrick, D, Parker, M, Carter, N, Wright, C, Hurles, M, Project, D
Published 2012Conference item -
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Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. by Wright, C, Fitzgerald, T, Jones, W, Clayton, S, McRae, J, van Kogelenberg, M, King, D, Ambridge, K, Barrett, D, Bayzetinova, T, Bevan, A, Bragin, E, Chatzimichali, E, Gribble, S, Jones, P, Krishnappa, N, Mason, L, Miller, R, Morley, K, Parthiban, V, Prigmore, E, Rajan, D, Sifrim, A, Swaminathan, G, Tivey, A
Published 2015Journal article -
4
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms by Boldt, K, van Reeuwijk, J, Lu, Q, Koutroumpas, K, Nguyen, T-MT, Texier, Y, van Beersum, SEC, Horn, N, Willer, JR, Mans, DA, Dougherty, G, Lamers, IJC, Coene, KLM, Arts, HH, Betts, MJ, Beyer, T, Bolat, E, Gloeckner, CJ, Haidari, K, Hetterschijt, L, Iaconis, D, Jenkins, D, Klose, F, Knapp, B, Latour, B, Letteboer, SJF, Marcelis, CL, Mitic, D, Morleo, M, Oud, MM, Riemersma, M, Rix, S, Terhal, PA, Toedt, G, van Dam, TJP, de Vrieze, E, Wissinger, Y, Wu, KM, Apic, G, Beales, PL, Blacque, OE, Gibson, TJ, Huynen, MA, Katsanis, N, Kremer, H, Omran, H, van Wijk, E, Wolfrum, U, Kepes, F, Davis, EE, Franco, B, Giles, RH, Ueffing, M, Russell, RB, Roepman, R, Al-Turki, S, Anderson, C, Antony, D, Barroso, I, Bentham, J, Bhattacharya, S, Carss, K, Chatterjee, K, Cirak, S, Cosgrove, C, Danecek, P, Durbin, R, Fitzpatrick, D, Floyd, J, Foley, A, Franklin, C, Futema, M, Humphries, SE, Hurles, M, Joyce, C, McCarthy, S, Mitchison, HM, Muddyman, D, Muntoni, F, O'Rahilly, S, Onoufriadis, A, Payne, F, Plagnol, V, Raymond, L, Savage, DB, Scambler, P, Schmidts, M, Schoenmakers, N, Semple, R, Serra, E, Stalker, J, van Kogelenberg, M, Vijayarangakannan, P, Walter, K, Whittall, R, Williamson, K
Published 2016Journal article