检索结果 - Claire Salter

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  1. 1
    Low uptake of Aboriginal interpreters in healthcare: exploration of current use in Australia’s Northern Territory

    Low uptake of Aboriginal interpreters in healthcare: exploration of current use in Australia’s Northern Territory 由 Anna P. Ralph, Anne Lowell, JEANNETTE MURPHY, Tara Dias, Deborah L. Butler, Brian Spain, Jaquelyne T. Hughes, Lauren Campbell, Barbara Bauert, Claire Salter, Kylie Tune, Alan Cass

    出版 2017
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  2. 2
    The Lililwan Project: study protocol for a population-based active case ascertainment study of the prevalence of fetal alcohol spectrum disorders (FASD) in remote Australian Aboriginal communities

    The Lililwan Project: study protocol for a population-based active case ascertainment study of the prevalence of fetal alcohol spectrum disorders (FASD) in remote Australian Aborig... 由 James Fitzpatrick, Elizabeth Elliott, Jane Latimer, Maureen Carter, June Oscar, Manuela L. Ferreira, Heather Carmichael Olson, Barbara R. Lucas, Robyn Doney, Claire Salter, Elizabeth Peadon, Genevieve Hawkes, Marmingee Hand

    出版 2012
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  3. 3
    A mutation of<i>EPT1 (SELENOI)</i>underlies a new disorder of Kennedy pathway phospholipid biosynthesis

    A mutation of<i>EPT1 (SELENOI)</i>underlies a new disorder of Kennedy pathway phospholipid biosynthesis 由 Momin Ahmed, Aisha Al‐Khayat, Fathiya Al-Murshedi, Amna Al‐Futaisi, Barry A. Chioza, J. Pedro Fernández-Murray, Jay Self, Claire Salter, Gaurav V. Harlalka, Lettie E. Rawlins, Sana Al‐Zuhaibi, Faisal Al-Azri, Fatma Al-Rashdi, Amaury Cazenave‐Gassiot, Markus R. Wenk, Fatema Al-Salmi, Michael A. Patton, David L. Silver, Emma L. Baple, Christopher R. McMaster, Andrew H. Crosby

    出版 2016
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  4. 4
    Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

    Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging 由 Aaron R. Jeffries, Reza Maroofian, Claire Salter, Barry A. Chioza, Harold E. Cross, Michael A. Patton, Emma Dempster, I. Karen Temple, Deborah Mackay, Faisal I. Rezwan, Lise Aksglæde, Diana Baralle, Tabib Dabir, Matthew F. Hunter, Arveen Kamath, Ajith Kumar, Ruth Newbury‐Ecob, Angelo Selicorni, Amanda Springer, Lionel Van Maldergem, Vinod Varghese, Naomi Yachelevich, Katrina Tatton‐Brown, Jonathan Mill, Andrew H. Crosby, Emma L. Baple

    出版 2019
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  5. 5
    TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia

    TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia 由 Luis Carlos Tábara, Fatema Al-Salmi, Reza Maroofian, Amna Al‐Futaisi, Fathiya Al-Murshedi, Joanna Kennedy, Jacob Day, Thomas Courtin, Aisha Al‐Khayat, Hamid Galedari, Neda Mazaheri, Margherita Protasoni, Mark Johnson, Joseph S. Leslie, Claire Salter, Lettie E. Rawlins, James Fasham, Almundher Al‐Maawali, Nikol Voutsina, Perrine Charles, Laura Harrold, Boris Keren, Edmund R.S. Kunji, Barbara Vona, Gholamreza Jelodar, Alireza Sedaghat, Gholamreza Shariati, Henry Houlden, Andrew H Crosby, Julien Prudent, Emma L. Baple

    出版 2022
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  6. 6
    Biallelic <i>PI4KA</i> variants cause neurological, intestinal and immunological disease

    Biallelic <i>PI4KA</i> variants cause neurological, intestinal and immunological disease 由 Claire Salter, Yiying Cai, Bernice Lo, Guy Helman, Henry M. Taylor, Amber J. McCartney, Joseph S. Leslie, Andrea Accogli, Federico Zara, Monica Traverso, James Fasham, Joshua A. Lees, Matteo P. Ferla, Barry A. Chioza, Olivia Wenger, Ethan M. Scott, Harold E. Cross, Joanna Crawford, Ilka Warshawsky, Matthew Keisling, Dimitris P. Agamanolis, Catherine Ward Melver, Helen Cox, Mamoun Elawad, Tamás Marton, Matthew N. Wakeling, Dirk Holzinger, Stephan Tippelt, Martin Munteanu, Deyana Valcheva, Christin Deal, Sara Van Meerbeke, Catherine Walsh Vockley, Manish J. Butte, Utkucan Acar, Marjo S. van der Knaap, Georg Christoph Korenke, Urania Kotzaeridou, Tamás Balla, Cas Simons, Holm H. Uhlig, Andrew H. Crosby, Pietro De Camilli, Nicole I. Wolf, Emma L. Baple

    出版 2021
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  7. 7
    Further delineation of Malan syndrome

    Further delineation of Malan syndrome 由 Manuela Priolo, Denny Schanze, Katrin Tatton-Brown, Paul A. Mulder, Jair Tenorio, Kreepa Kooblall, Inés Hernández Acero, Fowzan S. Alkuraya, Pedro Arias, Laura Bernardini, Emilia K. Bijlsma, Trevor Cole, Christine Coubes, Irene Dapía, Sally Davies, Nataliya Di Donato, Nursel Elçioğlu, Jill A. Fahrner, Alison Foster, Noelia García González, Ilka Huber, Maria Iascone, Ann-Sophie Kaiser, Arveen Kamath, Jan Liebelt, Sally Ann Lynch, Saskia M. Maas, Corrado Mammì, Inge B. Mathijssen, Shane McKee, Leonie A. Menke, Ghayda Mirzaa, Tara Montgomery, D. Neubauer, Thomas Neumann, Letizia Pintomalli, Maria Antonietta Pisanti, Astrid S. Plomp, Sue Price, Claire Salter, Fernando Santos‐Simarro, Pierre Sarda, Mabel Segovia, Charles Shaw‐Smith, Sarah Smithson, Mohnish Suri, Rita Valdéz, Arie van Haeringen, Johanna M. van Hagen, Marcella Zollino, Pablo Lapunzina, Rajesh V. Thakker, Martin Zenker, Raoul C. M. Hennekam

    出版 2018
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  8. 8
    Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation

    Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation 由 Zain Dardas, Laura Harrold, Daniel G. Calame, Claire Salter, Takashi Kikuma, Kevin P. Guay, Bobby G. Ng, Kanae Sano, Amr S. Saad, Haowei Du, Riccardo Sangermano, Sohil G Patankar, Shalini N. Jhangiani, Semra Gürsoy, Mohamed S. Abdel‐Hamid, Mahmoud K.H. Ahmed, Reza Maroofian, Rauan Kaiyrzhanov, Kamran Salayev, Wendy D Jones, Armando Caballero, Lucy McGavin, Michael W. Spiller, Miranda Durkie, Nicholas Wood, Lauren O’Grady, Paula Goldenberg, Ann M. Neumeyer, Amber Begtrup, Sherif F. Abdel‐Ghafar, Maha S. Zaki, Hilde Van Esch, Jennifer E. Posey, Olivia Wenger, Ethan M. Scott, Kinga M. Bujakowska, Richard A. Gibbs, Davut Pehli̇van, Dana Marafi, Joseph S. Leslie, Nishanka Ubeyratna, Jacob Day, Martina Owens, Jessica Settle, Soher Balkhy, Abdullah Tamim, Lama AlAbdi, Fowzan S. Alkuraya, Yoichi Takeda, Hudson H. Freeze, Daniel N. Hebert, James R. Lupski, Andrew H. Crosby, Emma L. Baple

    出版 2025
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