Search Results - Heaps, Adam

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  1. 1
    Mass spectrometric quantification of plasma glycosphingolipids in human GM3 ganglioside deficiency

    Mass spectrometric quantification of plasma glycosphingolipids in human GM3 ganglioside deficiency by Aoki, Kazuhiro, Heaps, Adam D., Strauss, Kevin A., Tiemeyer, Michael

    Published 2019
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  2. 2
    A Homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans

    A Homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans by Morlet, Thierry, Rabinowitz, Mindy R., Looney, Liesl R., Riegner, Tammy, Greenwood, L. Ashleigh, Sherman, Eric A., Achilly, Nathan, Zhu, Anni, Yoo, Estelle, ÓReilly, Robert C., Jinks, Robert N., Puffenberger, Erik G., Heaps, Adam, Morton, Holmes, Strauss, Kevin A.

    Published 2013
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  3. 3
    A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder

    A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder by Strauss, Kevin A., Markx, Sander, Georgi, Benjamin, Paul, Steven M., Jinks, Robert N., Hoshi, Toshinori, McDonald, Ann, First, Michael B., Liu, Wencheng, Benkert, Abigail R., Heaps, Adam D., Tian, Yutao, Chakravarti, Aravinda, Bucan, Maja, Puffenberger, Erik G.

    Published 2014
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  4. 4
    Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73

    Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73 by Jinks, Robert N., Puffenberger, Erik G., Baple, Emma, Harding, Brian, Crino, Peter, Fogo, Agnes B., Wenger, Olivia, Xin, Baozhong, Koehler, Alanna E., McGlincy, Madeleine H., Provencher, Margaret M., Smith, Jeffrey D., Tran, Linh, Al Turki, Saeed, Chioza, Barry A., Cross, Harold, Harlalka, Gaurav V., Hurles, Matthew E., Maroofian, Reza, Heaps, Adam D., Morton, Mary C., Stempak, Lisa, Hildebrandt, Friedhelm, Sadowski, Carolin E., Zaritsky, Joshua, Campellone, Kenneth, Morton, D. Holmes, Wang, Heng, Crosby, Andrew, Strauss, Kevin A.

    Published 2015
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