Search Results - Dobbie, Angus

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  1. 1
    Rapid Visualisation of Microarray Copy Number Data for the Detection of Structural Variations Linked to a Disease Phenotype

    Rapid Visualisation of Microarray Copy Number Data for the Detection of Structural Variations Linked to a Disease Phenotype by Carr, Ian M., Diggle, Christine P., Khan, Kamron, Inglehearn, Chris, McKibbin, Martin, Bonthron, David T., Markham, Alexander F., Anwar, Rashida, Dobbie, Angus, Pena, Sergio D.J., Ali, Manir

    Published 2012
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  2. 2
    Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome

    Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome by Thompson, Dorothy A, Feather, Sally, Stanescu, Horia C, Freudenthal, Bernard, Zdebik, Anselm A, Warth, Richard, Ognjanovic, Milos, Hulton, Sally A, Wassmer, Evangeline, van't Hoff, William, Russell-Eggitt, Isabelle, Dobbie, Angus, Sheridan, Eamonn, Kleta, Robert, Bockenhauer, Detlef

    Published 2011
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  3. 3
    SAMS, a Syndrome of Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities Is a Unique Neurocristopathy Caused by Mutations in Goosecoid

    SAMS, a Syndrome of Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities Is a Unique Neurocristopathy Caused by Mutations in Goosecoid by Parry, David A., Logan, Clare V., Stegmann, Alexander P.A., Abdelhamed, Zakia A., Calder, Alistair, Khan, Shabana, Bonthron, David T., Clowes, Virginia, Sheridan, Eamonn, Ghali, Neeti, Chudley, Albert E., Dobbie, Angus, Stumpel, Constance T.R.M., Johnson, Colin A.

    Published 2013
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  4. 4
    SURF1 deficiency: a multi-centre natural history study

    SURF1 deficiency: a multi-centre natural history study by Wedatilake, Yehani, Brown, Ruth M, McFarland, Robert, Yaplito-Lee, Joy, Morris, Andrew A M, Champion, Mike, Jardine, Phillip E, Clarke, Antonia, Thorburn, David R, Taylor, Robert W, Land, John M, Forrest, Katharine, Dobbie, Angus, Simmons, Louise, Aasheim, Erlend T, Ketteridge, David, Hanrahan, Donncha, Chakrapani, Anupam, Brown, Garry K, Rahman, Shamima

    Published 2013
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  5. 5
    Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities

    Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities by Boudin, Eveline, de Jong, Tjeerd R., Prickett, Tim C.R., Lapauw, Bruno, Toye, Kaatje, Van Hoof, Viviane, Luyckx, Ilse, Verstraeten, Aline, Heymans, Hugo S.A., Dulfer, Eelco, Van Laer, Lut, Berry, Ian R., Dobbie, Angus, Blair, Ed, Loeys, Bart, Espiner, Eric A., Wit, Jan M., Van Hul, Wim, Houpt, Peter, Mortier, Geert R.

    Published 2018
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  6. 6
    Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome

    Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome by Hussain, Muhammad Sajid, Battaglia, Agatino, Szczepanski, Sandra, Kaygusuz, Emrah, Toliat, Mohammad Reza, Sakakibara, Shin-ichi, Altmüller, Janine, Thiele, Holger, Nürnberg, Gudrun, Moosa, Shahida, Yigit, Gökhan, Beleggia, Filippo, Tinschert, Sigrid, Clayton-Smith, Jill, Vasudevan, Pradeep, Urquhart, Jill E., Donnai, Dian, Fryer, Alan, Percin, Ferda, Brancati, Francesco, Dobbie, Angus, Śmigiel, Robert, Gillessen-Kaesbach, Gabriele, Wollnik, Bernd, Noegel, Angelika Anna, Newman, William G., Nürnberg, Peter

    Published 2014
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  7. 7
    Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations

    Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations by Bockenhauer, Detlef, Feather, Sally, Stanescu, Horia C., Bandulik, Sascha, Zdebik, Anselm A., Reichold, Markus, Tobin, Jonathan, Lieberer, Evelyn, Sterner, Christina, Landoure, Guida, Arora, Ruchi, Sirimanna, Tony, Thompson, Dorothy, Cross, J. Helen, Hoff, William van’t, Masri, Omar Al, Tullus, Kjell, Yeung, Stella, Anikster, Yair, Klootwijk, Enriko, Hubank, Mike, Dillon, Michael J., Heitzmann, Dirk, Arcos-Burgos, Mauricio, Knepper, Mark A., Dobbie, Angus, Gahl, William A., Warth, Richard, Sheridan, Eamonn, Kleta, Robert

    Published 2009
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  8. 8
    Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2

    Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2 by Kennedy, Hannah, Haack, Tobias B., Hartill, Verity, Mataković, Lavinija, Baumgartner, E. Regula, Potter, Howard, Mackay, Richard, Alston, Charlotte L., O’Sullivan, Siobhan, McFarland, Robert, Connolly, Grainne, Gannon, Caroline, King, Richard, Mead, Scott, Crozier, Ian, Chan, Wandy, Florkowski, Chris M., Sage, Martin, Höfken, Thomas, Alhaddad, Bader, Kremer, Laura S., Kopajtich, Robert, Feichtinger, René G., Sperl, Wolfgang, Rodenburg, Richard J., Minet, Jean Claude, Dobbie, Angus, Strom, Tim M., Meitinger, Thomas, George, Peter M., Johnson, Colin A., Taylor, Robert W., Prokisch, Holger, Doudney, Kit, Mayr, Johannes A.

    Published 2016
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