অনুসন্ধান ফলাফলগুলি - Greta Gillies

  • প্রদর্শন 1 - 13 ফলাফল এর 13
ফলাফল পরিমার্জন করুন
  1. 1
    Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment

    Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment অনুযায়ী Howard T. Jacobs, Timothy Hutchin, Timo Käppi, Greta Gillies, Kia Minkkinen, John Walker, Karen Thompson, Anja T. Rovio, Massimo Carella, Salvatore Melchionda, Leopoldo Zelante, Paolo Gasparini, Ilmari Pyykkö, Zahid H. Shah, Massimo Zeviani, Robert F. Mueller

    প্রকাশিত 2004
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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  2. 2
    Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in <i>MTOR</i>

    Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in <i>MTOR</i> অনুযায়ী Richard J. Leventer, Thomas Scerri, Ashley P.L. Marsh, Kate Pope, Greta Gillies, Wirginia Maixner, Duncan MacGregor, A. Simon Harvey, Martin B. Delatycki, David J. Amor, Peter B. Crino, Melanie Bahlo, Paul J. Lockhart

    প্রকাশিত 2015
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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  3. 3
    Second‐hit<i> DEPDC5</i> mutation is limited to dysmorphic neurons in cortical dysplasia type IIA

    Second‐hit<i> DEPDC5</i> mutation is limited to dysmorphic neurons in cortical dysplasia type IIA অনুযায়ী Wei Shern Lee, Sarah Stephenson, Katherine B. Howell, Kate Pope, Greta Gillies, Alison Wray, Wirginia Maixner, Simone Mandelstam, Samuel F. Berkovic, Ingrid E. Scheffer, Duncan MacGregor, A. Simon Harvey, Paul J. Lockhart, Richard J. Leventer

    প্রকাশিত 2019
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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  4. 4
    Familial cortical dysplasia type <scp>IIA</scp> caused by a germline mutation in <i><scp>DEPDC</scp>5</i>

    Familial cortical dysplasia type <scp>IIA</scp> caused by a germline mutation in <i><scp>DEPDC</scp>5</i> অনুযায়ী Thomas Scerri, Jessica R. Riseley, Greta Gillies, Kate Pope, Rosemary Burgess, Simone Mandelstam, Leanne M. Dibbens, C.W. Chow, Wirginia Maixner, A. Simon Harvey, Graeme D. Jackson, David J. Amor, Martin B. Delatycki, Peter B. Crino, Samuel F. Berkovic, Ingrid E. Scheffer, Melanie Bahlo, Paul J. Lockhart, Richard J. Leventer

    প্রকাশিত 2015
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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  5. 5
    Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain

    Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain অনুযায়ী Zimeng Ye, Zac Chatterton, Jahnvi Pflueger, John A. Damiano, Lara McQuillan, A. Simon Harvey, Stephen Malone, Hongdo Do, Wirginia Maixner, Amy L. Schneider, Bernadette Nolan, Martin Wood, Wei Shern Lee, Greta Gillies, Kate Pope, Michael Wilson, Paul J. Lockhart, Alexander Dobrovic, Ingrid E. Scheffer, Melanie Bahlo, Richard J. Leventer, Ryan Lister, Samuel F. Berkovic, Michael S. Hildebrand

    প্রকাশিত 2021
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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  6. 6
    An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14

    An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14 অনুযায়ী Haloom Rafehi, Justin Read, David J. Szmulewicz, Kayli C. Davies, Penny Snell, Liam G. Fearnley, Liam Scott, Mirja Thomsen, Greta Gillies, Kate Pope, Mark F. Bennett, Jacob E. Munro, Kathie J. Ngo, Luke Chen, Mathew Wallis, Ernest Butler, Kishore R. Kumar, Kathy H. C. Wu, Susan E. Tomlinson, Stephen Tisch, Abhishek Malhotra, Matthew Lee‐Archer, Egor Dolzhenko, Michael A. Eberle, L. Jackson Roberts, Brent L. Fogel, Norbert Brüggemann, Katja Lohmann, Martin B. Delatycki, Melanie Bahlo, Paul J. Lockhart

    প্রকাশিত 2022
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  7. 7
    An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14

    An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14 অনুযায়ী Haloom Rafehi, Justin Read, David J. Szmulewicz, Kayli C. Davies, Penny Snell, Liam G. Fearnley, Liam Scott, Mirja Thomsen, Greta Gillies, Kate Pope, Mark F. Bennett, Jacob E. Munro, Kathie J. Ngo, Luke Chen, Mathew Wallis, Ernest Butler, Kishore R. Kumar, Kathy H. C. Wu, Susan E. Tomlinson, Stephen Tisch, Abhishek Malhotra, Matthew Lee‐Archer, Egor Dolzhenko, Michael A. Eberle, L. Jackson Roberts, Brent L. Fogel, Norbert Brüggemann, Katja Lohmann, Martin B. Delatycki, Melanie Bahlo, Paul J. Lockhart

    প্রকাশিত 2023
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Errata/Corrigenda
    তালিকাভুক্ত করুন
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  8. 8
    Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

    Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS অনুযায়ী Haloom Rafehi, David J. Szmulewicz, Mark F. Bennett, Nara L. M. Sobreira, Kate Pope, Katherine R. Smith, Greta Gillies, Peter Diakumis, Egor Dolzhenko, Michael A. Eberle, María García Barcina, David P. Breen, Andrew Chancellor, Phillip D. Cremer, Martin B. Delatycki, Brent L. Fogel, Anna Hackett, G. Michael Halmágyi, Solange Kapetanovic, Anthony E. Lang, Stuart Mossman, Weiyi Mu, Peter Patrikios, Susan Perlman, Ian Rosemergy, Elsdon Storey, Shaun R. D. Watson, Michael A. Wilson, David S. Zee, David Valle, David J. Amor, Melanie Bahlo, Paul J. Lockhart

    প্রকাশিত 2019
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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  9. 9
    Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology

    Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology অনুযায়ী Gabrielle R. Wilson, Joe C.H. Sim, Catriona McLean, Maila Giannandrea, Charles A. Galea, Jessica R. Riseley, Sarah Stephenson, Elizabeth Fitzpatrick, Stefan A. Haas, Kate Pope, Kirk J. Hogan, Ronald G. Gregg, Catherine J. Bromhead, David S. Wargowski, Christopher Lawrence, Paul A. James, Andrew Churchyard, Yujing Gao, Dean Phelan, Greta Gillies, Nicholas Salce, Lynn Stanford, Ashley P.L. Marsh, Maria Lidia Mignogna, Susan J. Hayflick, Richard J. Leventer, Martin B. Delatycki, George D. Mellick, Vera M. Kalscheuer, Patrizia D’Adamo, Melanie Bahlo, David J. Amor, Paul J. Lockhart

    প্রকাশিত 2014
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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  10. 10
    Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

    Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance অনুযায়ী Ashley P.L. Marsh, Delphine Héron, Timothy J. Edwards, Angélique Quartier, Charles A. Galea, Caroline Nava, Agnès Rastetter, Marie-Laure Moutard, Vicki Anderson, Pierre Bitoun, Jens Bunt, Anne Faudet, Cathérine Garel, Greta Gillies, Ilan Gobius, Justine Guégan, Solveig Heide, Boris Keren, Fabien Lesne, Vesna Lukić, Simone Mandelstam, George McGillivray, Alissandra McIlroy, Aurélie Méneret, Cyril Mignot, Laura Morcom, Sylvie Odent, Annalisa Paolino, Kate Pope, Florence Riant, Gail Robinson, Megan Spencer‐Smith, Myriam Srour, Sarah Stephenson, Rick M. Tankard, Oriane Trouillard, Quentin Welniarz, Amanda Wood, Alexis Brice, Guy A. Rouleau, Tania Attié‐Bitach, Martin B. Delatycki, Jean‐Louis Mandel, David J. Amor, Emmanuel Roze, Amélie Piton, Melanie Bahlo, Thierry Billette de Villemeur, Elliott H. Sherr, Richard J. Leventer, Linda J. Richards, Paul J. Lockhart, Christel Depienne

    প্রকাশিত 2017
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  11. 11
    Rasmussen encephalitis tissue transfer program

    Rasmussen encephalitis tissue transfer program অনুযায়ী Carol A. Kruse, Carlos A. Pardo, Adam L. Hartman, George I. Jallo, Eileen P.G. Vining, Joe Voros, William D. Gaillard, Judy Liu, Chima Oluigbo, Stephen Malone, Andrew Bleasel, Mark Dexter, Alex Micati, Tonicarlo Rodrigues Velasco, Hélio Rubens Machado, Anthony Martino, Adam Huang, B. Matt Wheatley, Gerald A. Grant, Tiziana Granata, Elena Freri, Rita Garbelli, Sookyong Koh, Douglas R. Nordli, Alexandre Rainha Campos, Brent R. O’Neill, Michael H. Handler, Kevin Chapman, Angus A. Wilfong, Daniel J. Curry, Amanda L. Yaun, Joseph R. Madsen, Matthew D. Smyth, Deanna Mercer, William Bingaman, A. Simon Harvey, Richard J. Leventer, Paul J. Lockhart, Greta Gillies, Kate Pope, Cole A. Giller, Yong D. Park, Amyn M. Rojiani, Suash J. Sharma, Patrick D. Jenkins, Spencer Tung, My N. Huynh, Thabiso W. Chirwa, Carlos Cepeda, Michael S. Levine, Julia W. Chang, Geoffrey C. Owens, Harry V. Vinters, Gary W. Mathern

    প্রকাশিত 2016
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Carta
    তালিকাভুক্ত করুন
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  12. 12
    Cornelia de Lange syndrome in diverse populations

    Cornelia de Lange syndrome in diverse populations অনুযায়ী Leah Dowsett, Antonio R. Porras, Paul Kruszka, Brandon Davis, Tommy Hu, Engela Honey, Ëben Badoe, Meow‐Keong Thong, Eyby Leon, Katta M. Girisha, Anju Shukla, Shalini S. Nayak, Vorasuk Shotelersuk, André Mégarbané, Shubha R. Phadke, Nirmala D. Sirisena, Vajira H. W. Dissanayake, Carlos R. Ferreira, Monisha S. Kisling, Pranoot Tanpaiboon, Annette Uwineza, Léon Mutesa, Cedrik Tekendo‐Ngongang, Ambroise Wonkam, Karen Fieggen, Letícia Cassimiro Batista, Danilo Moretti‐Ferreira, Roger E. Stevenson, Eloise J. Prijoles, David B. Everman, Kate B. Clarkson, Jessica Worthington, Virginia Kimonis, Fuki M. Hisama, Carol A. Crowe, Paul Wong, Kisha Johnson, Robin D. Clark, Lynne M. Bird, Diane Masser‐Frye, Timothy J. McDonald, Patrick J. Willems, Elizabeth Roeder, Sulgana Saitta, Kwame Anyane‐Yeoba, Laurie Demmer, Naoki Hamajima, Zornitza Stark, Greta Gillies, Louanne Hudgins, Usha Dave, Stavit A. Shalev, Victoria Mok Siu, Neerja Gupta, Madhulika Kabra, Angus Ades, Holly Dubbs, Sarah E. Raible, Maninder Kaur, Emanuela Salzano, Laird S. Jackson, Matthew A. Deardorff, Antonie D. Kline, Marshall Summar, Maximilian Muenke, Marius George Linguraru, Ian D. Krantz

    প্রকাশিত 2019
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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  13. 13
    The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

    The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP অনুযায়ী Sarah M. Nikkel, Andrew Dauber, Sonja de Munnik, Meghan Connolly, Rebecca L. Hood, Oana Caluseriu, Jane A. Hurst, Usha Kini, Małgorzata J.M. Nowaczyk, Alexandra Afenjar, Beate Albrecht, Judith Allanson, Paolo Balestri, Tawfeg Ben‐Omran, Francesco Brancati, Isabel Cordeiro, Bruna Santos da Cunha, Louisa A Delaney, Anne Destrèe, David Fitzpatrick, Francesca Forzano, Neeti Ghali, Greta Gillies, Katerina Harwood, Yvonne Hendriks, Delphine Héron, Alexander Hoischen, Engela Honey, Lies H. Hoefsloot, Jennifer Ibrahim, Claire M Jacob, Sarina G. Kant, Chong Ae Kim, Edwin P. Kirk, Nine V.A.M. Knoers, Didier Lacombe, Chung Lee, Ivan F. M. Lo, Luiza Silveira Lucas, Francesca Mari, Verónica Mericq, Jukka S. Moilanen, Sanne Traasdahl Møller, Stéphanie Moortgat, Daniela T. Pilz, Kate Pope, Susan Price, Alessandra Renieri, Joaquim Sá, Jeroen Schoots, Elizabeth Lemos Silveira, Marleen Simon, Anne Slavotinek, I. Karen Temple, Ineke van der Burgt, Bert B.A. de Vries, James D. Weisfeld‐Adams, Margo L. Whiteford, Dagmar Wierczorek, Jan M. Wit, Connie Fung On Yee, Chandree L. Beaulieu, Sue M. White, Dennis E. Bulman, Ernie M.H.F. Bongers, Han G. Brunner, Murray Feingold, Kym M. Boycott

    প্রকাশিত 2013
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
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