Showing 1 - 9 results of 9 for search 'Temple, I', query time: 0.03s
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Identification of a submicroscopic familial 4p;11p translocation using multiple telomere probe FISH analysis by Knight, S, Regan, R, Flint, J, Horsley, S, Kearney, L, Temple, I, Young, I
Published 1997Journal article -
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Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes. by Gloyn, A, Ellard, S, Shield, J, Temple, I, Mackay, D, Polak, M, Barrett, T, Hattersley, A
Published 2002Journal article -
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Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity. by Oldridge, M, Temple, I, Santos, H, Gibbons, R, Mustafa, Z, Chapman, K, Loughlin, J, Wilkie, A
Published 1999Journal article -
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Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine tripho... by Gloyn, A, Cummings, E, Edghill, E, Harries, L, Scott, R, Costa, T, Temple, I, Hattersley, A, Ellard, S
Published 2004Journal article -
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Relapsing diabetes can result from moderately activating mutations in KCNJ11. by Gloyn, A, Reimann, F, Girard, C, Edghill, E, Proks, P, Pearson, E, Temple, I, Mackay, D, Shield, J, Freedenberg, D, Noyes, K, Ellard, S, Ashcroft, F, Gribble, F, Hattersley, A
Published 2005Journal article -
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Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders by Pagnamenta, A, Murakami, Y, Taylor, J, Anzilotti, C, Howard, M, Miller, V, Johnson, D, Tadros, S, Mansour, S, Temple, I, Firth, R, Rosser, E, Harrison, R, Kerr, B, Popitsch, N, The DDD Study, Kinoshita, T, Taylor, J, Kini, U
Published 2017Journal article -
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A recurrent mosaic mutation of SMO, encoding the hedgehog signal transducer Smoothened, is the major cause of Curry-Jones syndrome by Twigg, S, Wilkie, A, Hufnagel, R, Miller, K, Zhou, Y, McGowan, S, Taylor, J, Craft, J, Taylor, J, Santoro, S, Huang, T, Hopkin, R, Brady, A, Clayton-Smith, J, Clericuzio, C, Grange, D, Groesser, L, Hafner, C, Horn, D, Temple, I, Dobyns, W, Curry, C, Jones, M, Wilkie, A
Published 2016Journal article -
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Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. by Gloyn, A, Pearson, E, Antcliff, J, Proks, P, Bruining, G, Slingerland, A, Howard, N, Srinivasan, S, Silva, J, Molnes, J, Edghill, E, Frayling, T, Temple, I, Mackay, D, Shield, J, Sumnik, Z, van Rhijn, A, Wales, J, Clark, P, Gorman, S, Aisenberg, J, Ellard, S, Njølstad, P, Ashcroft, F, Hattersley, A
Published 2004Journal article