檢索結果 - Adeline K. Nicholas

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  1. 1
    Novel<i>SCN9A</i>Mutations Underlying Extreme Pain Phenotypes: Unexpected Electrophysiological and Clinical Phenotype Correlations

    Novel<i>SCN9A</i>Mutations Underlying Extreme Pain Phenotypes: Unexpected Electrophysiological and Clinical Phenotype Correlations 由 Edward C. Emery, Abdella M. Habib, James J. Cox, Adeline K. Nicholas, Fiona M. Gribble, C. Geoffrey Woods, Frank Reimann

    出版 2015
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  2. 2
    <i>DUOX2</i>/<i>DUOXA2</i> Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom

    <i>DUOX2</i>/<i>DUOXA2</i> Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom 由 Catherine Peters, Adeline K. Nicholas, Erik Schoenmakers, Greta Lyons, Shirley Langham, Eva Serra, Neil J. Sebire, Marina Muzza, Laura Fugazzola, Nadia Schoenmakers

    出版 2019
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  3. 3
    A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy

    A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy 由 Ofélia P. Carvalho, Gemma Thornton, Jozef Hertecant, Henry Houlden, Adeline K. Nicholas, James J. Cox, M. Rielly, Lihadh Al‐Gazali, C. Geoffrey Woods

    出版 2010
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  4. 4
    A primary microcephaly protein complex forms a ring around parental centrioles

    A primary microcephaly protein complex forms a ring around parental centrioles 由 Joo-Hee Sir, Alexis R. Barr, Adeline K. Nicholas, Ofélia P. Carvalho, Maryam Khurshid, Alex Sossick, Stefanie Reichelt, Clive S. D’Santos, C. Geoffrey Woods, Fanni Gergely

    出版 2011
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  5. 5
    Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations

    Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations 由 James J. Cox, Jony Sheynin, Zamir Shorer, Frank Reimann, Adeline K. Nicholas, Lorena Zubović, Marco Baralle, Elizabeth Wraige, Esther Manor, Jacov Levy, Crislyn Woods, Ruti Parvari

    出版 2010
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  6. 6
    Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency

    Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency 由 Chiara Bacchelli, Federico A. Moretti, Marlene Carmo, Stuart Adams, Horia Stanescu, Kerra Pearce, Manisha Madkaikar, Kimberly Gilmour, Adeline K. Nicholas, C. Geoffrey Woods, Robert Kleta, Phil Beales, Waseem Qasim, H. Bobby Gaspar

    出版 2016
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  7. 7
    The molecular landscape of ASPM mutations in primary microcephaly

    The molecular landscape of ASPM mutations in primary microcephaly 由 Adeline K. Nicholas, Eric A. Swanson, James J. Cox, Gulshan Karbani, Sabreena Malik, Kelly Springell, Daniel J. Hampshire, M Ahmed, Jacquelyn Bond, Daniela Benedetto, Marco Fichera, Corrado Romano, William B. Dobyns, C. Geoffrey Woods

    出版 2008
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  8. 8
    WDR62 is associated with the spindle pole and is mutated in human microcephaly

    WDR62 is associated with the spindle pole and is mutated in human microcephaly 由 Adeline K. Nicholas, Maryam Khurshid, Julie Désir, Ofélia P. Carvalho, James J. Cox, Gemma Thornton, Rizwana Kausar, Muhammad Ansar, Wasim Ahmad, Alain Verloès, Sandrine Passemard, Jean-Paul Misson, Susan Lindsay, Fanni Gergely, William B. Dobyns, Emma Roberts, Marc Abramowicz, C. Geoffrey Woods

    出版 2010
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  9. 9
    An SCN9A channelopathy causes congenital inability to experience pain

    An SCN9A channelopathy causes congenital inability to experience pain 由 James J. Cox, Frank Reimann, Adeline K. Nicholas, Gemma Thornton, Emma Roberts, Kelly Springell, Gulshan Karbani, Hussain Jafri, Jovaria Mannan, Yasmin Raashid, Lihadh Al‐Gazali, Henan Hamamy, Enza Maria Valente, Shaun Gorman, Richard Williams, Duncan P. McHale, John N. Wood, Fiona M. Gribble, C. Geoffrey Woods

    出版 2006
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  10. 10
    The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis

    The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis 由 Mehmet Bakırcıoğlu, Ofélia P. Carvalho, Maryam Khurshid, James J. Cox, Beyhan Tüysüz, Tanyeri Barak, Saliha Yılmaz, Ahmet Okay Çağlayan, Alp Di̇nçer, Adeline K. Nicholas, Oliver Quarrell, Kelly Springell, Gulshan Karbani, Saghira Malik, Caroline Gannon, Eamonn Sheridan, Moira Crosier, Steven Lisgo, Susan Lindsay, Kaya Bilgüvar, Fanni Gergely, Murat Günel, C. Geoffrey Woods

    出版 2011
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  11. 11
    Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

    Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism 由 Hakan Cangül, Xiao-Hui Liao, Erik Schoenmakers, Jukka Kero, Sharon Barone, Panudda Srichomkwun, Hideyuki Iwayama, Eva Serra, Halil Sağlam, Erdal Eren, Ömer Tarım, Adeline K. Nicholas, Ilona Zvetkova, Carl A. Anderson, Fiona E. Karet, Kristien Boelaert, Marja Ojaniemi, Jarmo Jääskeläinen, Konrad Patyra, Christoffer Löf, E. D. Williams, Manoocher Soleimani, Timothy Barrett, Eamonn R. Maher, Krishna Chatterjee, Samuel Refetoff, Nadia Schoenmakers

    出版 2018
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  12. 12
    Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ

    Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ 由 Adeline K. Nicholas, Eva Serra, Hakan Cangül, Saif Al-Yaarubi, Irfan Ullah, Erik Schoenmakers, Asma Deeb, Abdelhadi Habeb, Mohammad S. Al-Maghamsi, Catherine Peters, Nisha Nathwani, Zehra Aycan, Halil Sağlam, Ece Böber, Mehul Dattani, Savitha Shenoy, Philip Murray, Amir Babiker, Ruben H. Willemsen, Ajay Thankamony, Greta Lyons, Rachael Irwin, Raja Padidela, Kavitha Tharian, Justin H. Davies, Vijith Puthi, Soo‐Mi Park, Ahmed F. Massoud, John W Gregory, Assunta Albanese, Evelien Pease-Gevers, Howard Martin, Kim Brügger, Eamonn R. Maher, Krishna Chatterjee, Carl A. Anderson, Nadia Schoenmakers

    出版 2016
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  13. 13
    Transcriptional regulator PRDM12 is essential for human pain perception

    Transcriptional regulator PRDM12 is essential for human pain perception 由 Ya-Chun Chen, Michaela Auer‐Grumbach, Shinya Matsukawa, Manuela Zitzelsberger, Andreas C. Themistocleous, Tim M. Strom, Chrysanthi Samara, Adrian W. Moore, Lily Ting-Yin Cho, Gareth T. Young, Caecilia Weiss, Maria Schabhüttl, Rolf Stucka, Annina B. Schmid, Yeşim Parman, Luitgard Graul‐Neumann, Wolfram Heinritz, Eberhard Passarge, Rosemarie M. Watson, Jens Michael Hertz, Ute Moog, Manuela Baumgärtner, Enza Maria Valente, Diego Pereira, Carlos Martín Restrepo, István Katona, Marina Dusl, Claudia Stendel, Thomas Wieland, Fay Stafford, Frank Reimann, Katja von Au, Christian Finke, Patrick J. Willems, Michael S. Nahorski, Samiha S. Shaikh, Ofélia P. Carvalho, Adeline K. Nicholas, Gulshan Karbani, Maeve A. McAleer, Maria Roberta Cilio, John C. McHugh, Sinéad M. Murphy, Alan D. Irvine, Uffe Birk Jensen, Reinhard Windhager, Joachim Weis, Carsten Bergmann, Bernd Rautenstrauß, Jonathan Baets, Peter De Jonghe, Mary M. Reilly, Regina Kropatsch, Ingo Kurth, Roman Chrast, Tatsuo Michiue, David Bennett, C. Geoffrey Woods, Jan Senderek

    出版 2015
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