Resultados da pesquisa - Chumei Li

  • A mostrar 1 - 16 resultados de 16
Refinar resultados
  1. 1
    Myelin-Associated Glycoprotein Is a Myelin Signal that Modulates the Caliber of Myelinated Axons

    Myelin-Associated Glycoprotein Is a Myelin Signal that Modulates the Caliber of Myelinated Axons Por Xinghua Yin, Thomas O. Crawford, John W. Griffin, Pang-Hsien Tu, Virginia M.‐Y. Lee, Chumei Li, John Roder, Bruce D. Trapp

    Publicado em 1998
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  2. 2
    Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

    Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12 Por Sandesh C. Sreenath Nagamani, Ayelet Erez, Joseph Shen, Chumei Li, Elizabeth Roeder, Sarah K. Cox, Lefkothea Karaviti, Margret Pearson, Sung‐Hae Kang, Trilochan Sahoo, Seema R. Lalani, Paweł Stankiewicz, V. Reid Sutton, Sau Wai Cheung

    Publicado em 2009
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  3. 3
    Short Communication: The Cardiac Myosin Binding Protein C Arg502Trp Mutation

    Short Communication: The Cardiac Myosin Binding Protein C Arg502Trp Mutation Por Adam J. Saltzman, Debora Mancini‐DiNardo, Chumei Li, Wendy K. Chung, Carolyn Y. Ho, Stephanie Hurst, Julia Wynn, Melanie Care, Robert M. Hamilton, Gregor W. Seidman, Joshua M. Gorham, Barbara McDonough, Elizabeth Sparks, Jonathan G. Seidman, Christine E. Seidman, Heidi L. Rehm

    Publicado em 2010
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  4. 4
    Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation

    Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation Por Bobby G. Ng, Kati J. Buckingham, Kimiyo Raymond, Martin Kircher, Emily H. Turner, Miao He, Joshua D. Smith, Alexey M. Eroshkin, Marta Szybowska, Marie E. Losfeld, Jessica X. Chong, Mariya Kozenko, Chumei Li, Marc C. Patterson, Rodney D. Gilbert, Deborah A. Nickerson, Jay Shendure, Michael J. Bamshad, Hudson H. Freeze

    Publicado em 2013
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  5. 5
    Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1

    Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1 Por Anne Slavotinek, Sergio E. Baranzini, Denny Schanze, Cassandre Labelle‐Dumais, Kieran M. Short, Richard C. Chao, Mani Yavi, Emilia K. Bijlsma, Catherine Chu, Stacy L. Musone, Amanda Wheatley, Pui‐Yan Kwok, Sandra L. Marles, J. P. Fryns, A. Murat Maga, Mohamed G. Hassan, Douglas B. Gould, Lohith Madireddy, Chumei Li, Timothy C. Cox, Ian Smyth, Albert E. Chudley, Martin Zenker

    Publicado em 2011
    Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  6. 6
    Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

    Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions Por Erfan Aref‐Eshghi, Eric G. Bend, Samantha Colaiacovo, Michelle Caudle, Rana Chakrabarti, Melanie Napier, Lauren Brick, Lauren Brady, Deanna Alexis Carere, Michael A. Levy, Jennifer Kerkhof, Alan Stuart, Maha Saleh, Arthur L. Beaudet, Chumei Li, Maryia Kozenko, Natalya Karp, Chitra Prasad, Victoria Mok Siu, Mark A. Tarnopolsky, Peter Ainsworth, Hanxin Lin, David I. Rodenhiser, Ian D. Krantz, Matthew A. Deardorff, Charles E. Schwartz, Bekim Sadiković

    Publicado em 2019
    Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  7. 7
    Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

    Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder Por Sureni V. Mullegama, Jill A. Rosenfeld, Carmen Orellana, Bregje W.M. van Bon, Sara Halbach, Elena Repnikova, Lauren Brick, Chumei Li, Lucie Dupuis, Mónica Roselló, Swaroop Aradhya, Dimitri J. Stavropoulos, Kandamurugu Manickam, Elyse Mitchell, Jennelle C. Hodge, Michael E. Talkowski, James F. Gusella, Kory Keller, Jonathan Zonana, Stuart Schwartz, Robert E. Pyatt, Darrel Waggoner, Lisa G. Shaffer, Angela E. Lin, Bert B.A. de Vries, Roberto Mendoza-Londoño, Sarah H. Elsea

    Publicado em 2013
    Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  8. 8
    Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

    Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities Por Seema R. Lalani, Chad A. Shaw, Xueqing Wang, Ankita Patel, Lance W Patterson, Katarzyna Kołodziejska, Przemysław Szafrański, Zhishuo Ou, Qi Tian, Sung-Hae L. Kang, Amina Jinnah, Sophia Ali, A. H. Malik, Patricia Hixson, Lorraine Potocki, James R. Lupski, Paweł Stankiewicz, Carlos A. Bacino, Brian Dawson, Arthur L. Beaudet, Fatima Boricha, Runako Whittaker, Chumei Li, Stephanie M. Ware, Sau Wai Cheung, Daniel J. Penny, John L. Jefferies, John W. Belmont

    Publicado em 2012
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  9. 9
    WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations

    WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations Por Katrin Friedrich, Lin Lee, Dru F. Leistritz, Gudrun Nürnberg, Bidisha Saha, Fuki M. Hisama, Daniel Eyman, Davor Lessel, Peter Nürnberg, Chumei Li, María José García-F-Villalta, Carolien M. Kets, Joerg Schmidtke, Vítor Tedim Cruz, Peter C. van den Akker, Joseph Boak, Dincy Peter, Goli Compoginis, Kıvanç Çefle, Şükrü Öztürk, Norberto López, Theda Wessel, Martin Poot, P.F. Ippel, Birgit Groff-Kellermann, Holger Hoehn, George M. Martin, Christian Kubisch, Junko Oshima

    Publicado em 2010
    Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  10. 10
    Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

    Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression Por Chelsea Lowther, Marsha Speevak, Christine M. Armour, Elaine Goh, Gail E. Graham, Chumei Li, Susan Zeesman, Małgorzata J.M. Nowaczyk, Lee‐Anne Schultz, Antonella Morra, Rob Nicolson, Peter Bikangaga, Dawa Samdup, Mostafa Zaazou, Kerry Boyd, Jack H. Jung, Victoria Mok Siu, Manjulata Rajguru, Sharan Goobie, Mark A. Tarnopolsky, Chitra Prasad, Paul T. Dick, Asmaa S. Hussain, Margreet Walinga, Renske G. Reijenga, Matthew J. Gazzellone, Anath C. Lionel, Christian R. Marshall, Stephen W. Scherer, Dimitri J. Stavropoulos, M. Elizabeth McCready, Anne S. Bassett

    Publicado em 2016
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  11. 11
    The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

    The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations Por Chun‐An Chen, Daniëlle G.M. Bosch, Megan T. Cho, Jill A. Rosenfeld, Marwan Shinawi, Richard A. Lewis, John Mann, Parul Jayakar, Katelyn Payne, Laurence E. Walsh, Timothy Moss, Allison Schreiber, Cheri Schoonveld, Kristin G. Monaghan, Frances Elmslie, Ganka Douglas, F. Nienke Boonstra, Francisca Millan, Frans P.M. Cremers, Dianalee McKnight, Gabriele Richard, Jane Juusola, Fran Kendall, Keri Ramsey, Kwame Anyane‐Yeboa, Elfrida Malkin, Wendy K. Chung, Dmitriy Niyazov, Juan M. Pascual, Magdalena Walkiewicz, Vivekanand Veluchamy, Chumei Li, Fuki M. Hisama, Bert B.A. de Vries, Christian P. Schaaf

    Publicado em 2016
    Obter o texto integral Obter o texto integral
    Errata/Corrigenda
    Adic. favoritos
    Na minha lista:
  12. 12
    Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

    Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy Por Yu‐Ri Lee, Kamal Khan, Kim Armfield-Uhas, Sujata Srikanth, Nicola Thompson, Mercedes Pardo, Lu Yu, Joy Norris, Yunhui Peng, Karen W. Gripp, Kirk Aleck, Chumei Li, Ed Spence, Tae‐Ik Choi, Soo Jeong Kwon, Hee‐Moon Park, Daseuli Yu, Won Do Heo, Marie R. Mooney, Shahid Mahmood Baig, Ingrid M. Wentzensen, Aida Telegrafi, Kirsty McWalter, Trevor Moreland, Chelsea Roadhouse, Keri Ramsey, Michael J. Lyons, Cindy Skinner, Emil Alexov, Nicholas Katsanis, Roger E. Stevenson, Jyoti S. Choudhary, David J. Adams, Cheol‐Hee Kim, Erica E. Davis, Charles E. Schwartz

    Publicado em 2020
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  13. 13
    The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

    The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes Por Cynthia J. Curry, Jill A. Rosenfeld, Erica T. Grant, Karen W. Gripp, Carol E. Anderson, Arthur S. Aylsworth, Taha Ben Saad, Victor V. Chizhikov, Giedre Dybose, Christina Fagerberg, M. Falco, Christina Fels, Marco Fichera, Jesper Graakjær, Donatella Greco, Jennifer Hair, Elizabeth Hopkins, Marlene J. Huggins, Roger L. Ladda, Chumei Li, John B. Moeschler, Małgorzata J.M. Nowaczyk, Jillian R. Ozmore, S Reitano, Corrado Romano, Laura Roos, Rhonda E. Schnur, Susan L. Sell, Pim Suwannarat, Dea Svaneby, Marta Szybowska, Mark A. Tarnopolsky, Raymond C. Tervo, Anne Chun‐Hui Tsai, Megan Tucker, Stephanie E. Vallee, Ferrin C. Wheeler, Dina J. Zand, A. James Barkovich, Swaroop Aradhya, Lisa G. Shaffer, William B. Dobyns

    Publicado em 2013
    Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  14. 14
    Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

    Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling Por Gillian Rice, Yoandris del Toro Duany, Emma M. Jenkinson, Gabriella Forte, Beverley Anderson, Giada Ariaudo, Brigitte Bader‐Meunier, Eileen Baildam, Roberta Battini, Michael W. Beresford, Manuela Casarano, Mondher Chouchane, Rolando Cimaz, Abigail E. Collins, Nuno Cordeiro, Russell C. Dale, Joyce Davidson, Liesbeth De Waele, Isabelle Desguerre, Laurence Faivre, Elisa Fazzi, Bertrand Isidor, Lieven Lagae, Andrew Latchman, Pierre Lebon, Chumei Li, John H. Livingston, Charles Marques Lourenço, Maria Margherita Mancardi, Alice Masurel‐Paulet, Iain B. McInnes, Manoj P. Menezes, Cyril Mignot, James O’Sullivan, Simona Orcesi, Paolo Picco, Enrica Riva, Robert A. Robinson, Diana Rodriguez, E. Salvatici, Christiaan Scott, Marta Szybowska, John Tolmie, Adeline Vanderver, Catherine Vanhulle, José Pedro Vieira, Kate Webb, Robyn Whitney, Simon G. Williams, Lynne A. Wolfe, Sameer M. Zuberi, Sun Hur, Yanick J. Crow

    Publicado em 2014
    Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  15. 15
    Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

    Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies Por Michael D. Fountain, David S. Oleson, Megan Rech, Lara Segebrecht, Jill V. Hunter, John McCarthy, Philip J. Lupo, Manuel Holtgrewe, Rocio Moran, Jill A. Rosenfeld, Bertrand Isidor, Cédric Le Caignec, Margarita Sáenz, Robert C. Pedersen, Thomas M. Morgan, Jean P. Pfotenhauer, Fan Xia, Weimin Bi, Sung-Hae L. Kang, Ankita Patel, Ian D. Krantz, Sarah E. Raible, Wendy E. Smith, Ingrid Cristian, Erin Torti, Jane Juusola, Francisca Millan, Ingrid M. Wentzensen, Richard Person, Sébastien Küry, Stéphane Bézieau, Kévin Uguen, Claude Férec, Arnold Münnich, Mieke M. van Haelst, Klaske D. Lichtenbelt, Koen L.I. van Gassen, Tanner Hagelstrom, Aditi Chawla, Denise Perry, Ryan J. Taft, Marilyn C. Jones, Diane Masser‐Frye, David A. Dyment, Sunita Venkateswaran, Chumei Li, Luis Escobar, Denise Horn, Rebecca C. Spillmann, Loren D.M. Peña, Jolanta Wierzba, Tim M. Strom, Ilaria Parenti, Frank J. Kaiser, Nadja Ehmke, Christian P. Schaaf

    Publicado em 2019
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:
  16. 16
    MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

    MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis Por Christopher Chun Yu Mak, Dan Doherty, Angela E. Lin, Nancy Végas, Megan T. Cho, Géraldine Viot, Clémantine Dimartino, James D. Weisfeld‐Adams, Davor Lessel, Shelagh Joss, Chumei Li, Claudia Gonzaga‐Jauregui, Yuri A. Zárate, Nadja Ehmke, Denise Horn, Caitlin Troyer, Sarina G. Kant, Youngha Lee, Gisele E. Ishak, Gordon Leung, Amanda Barone Pritchard, Sandra Yang, Eric G. Bend, Francesca Filippini, Chelsea Roadhouse, Nicolas Lebrun, Michele G. Mehaffey, Pierre‐Marie Martin, Benjamin J. Apple, Francisca Millan, Oliver Puk, Mariëtte J.V. Hoffer, Lindsay B. Henderson, Ruth McGowan, Ingrid M. Wentzensen, Steven Lim Cho Pei, Farah Zahir, Mullin H.C. Yu, William T. Gibson, Ann Seman, Marcie Steeves, Jill R. Murrell, Sabine Luettgen, E. Nicolás Francisco, Tim M. Strom, Louise Amlie‐Wolf, Angela M. Kaindl, William G. Wilson, Sara Halbach, Lina Basel‐Vanagaite, Noa Lev-El, Jonas Denecke, Lisenka E.L.M. Vissers, Kelly Radtke, Jamel Chelly, Elaine H. Zackai, Jan M. Friedman, Michael J. Bamshad, Deborah A. Nickerson, Russell R. Reid, Koenraad Devriendt, Jong‐Hee Chae, Elliot Stolerman, Carey McDougall, Zöe Powis, Thierry Bienvenu, Tiong Yang Tan, Naama Orenstein, William B. Dobyns, Joseph T.C. Shieh, Murim Choi, Darrel Waggoner, Karen W. Gripp, Michael Parker, Joan M. Stoler, Stanislas Lyonnet, Valérie Cormier‐Daire, David Viskochil, Trevor L. Hoffman, Jeanne Amiel, Brian Hon‐Yin Chung, Christopher T. Gordon

    Publicado em 2019
    Obter o texto integral Obter o texto integral
    Artigo
    Adic. favoritos
    Na minha lista:

Ferramentas de pesquisa: