檢索結果 - Lisette Nevarez

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  1. 1
    <i>IFT52</i>mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome

    <i>IFT52</i>mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome 由 Wenjuan Zhang, S. Paige Taylor, Lisette Nevarez, Ralph S. Lachman, Deborah A. Nickerson, Michael J. Bamshad, Deborah Krakow, Daniel H. Cohn

    出版 2016
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    Artigo
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  2. 2
    Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis

    Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis 由 Felipe Albuquerque Marques, Jessica Tenney, Iván Durán, Jorge Martı́n, Lisette Nevarez, Robert Pogue, Deborah Krakow, Daniel H. Cohn, Bing Li

    出版 2016
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  3. 3
    TREM-2 (triggering receptor expressed on myeloid cells 2) is a phagocytic receptor for bacteria

    TREM-2 (triggering receptor expressed on myeloid cells 2) is a phagocytic receptor for bacteria 由 Elsa-Noah N’Diaye, Catherine Branda, Steven S. Branda, Lisette Nevarez, Marco Colonna, Clifford A. Lowell, Jessica A. Hamerman, William E. Seaman

    出版 2009
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    Artigo
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  4. 4
    HSP47 and FKBP65 cooperate in the synthesis of type I procollagen

    HSP47 and FKBP65 cooperate in the synthesis of type I procollagen 由 Iván Durán, Lisette Nevarez, Anna Sarukhanov, Sulin Wu, Katrina Lee, Pavel Krejčı́, MaryAnn Weis, David R. Eyre, Deborah Krakow, Daniel H. Cohn

    出版 2014
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  5. 5
    Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies

    Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies 由 Wenjuan Zhang, S. Paige Taylor, Hayley A. Ennis, Kimberly N. Forlenza, Iván Durán, Bing Li, Jorge A. Ortiz Sanchez, Lisette Nevarez, Deborah A. Nickerson, Michael J. Bamshad, Ralph S. Lachman, Deborah Krakow, Daniel H. Cohn

    出版 2017
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  6. 6
    Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene

    Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene 由 Stuart W. Tompson, Carlos A. Bacino, Nicole P. Safina, Michael B. Bober, Virginia K. Proud, Tara Funari, Michael F. Wangler, Lisette Nevarez, Leena Ala‐Kokko, William R. Wilcox, David R. Eyre, Deborah Krakow, Daniel H. Cohn

    出版 2010
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  7. 7
    Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia

    Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia 由 Adetutu T. Egunsola, Yangjin Bae, Ming-Ming Jiang, David S. Liu, Yuqing Chen-Evenson, Terry Bertin, Shan Chen, James T. Lu, Lisette Nevarez, Nurit Magal, Annick Raas‐Rothschild, Eric C. Swindell, Daniel H. Cohn, Richard A. Gibbs, Philippe M. Campeau, Mordechai Shohat, Brendan Lee

    出版 2017
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  8. 8
    <i>WNT1</i> Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta

    <i>WNT1</i> Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta 由 Christine Lainé, Kyu Sang Joeng, Philippe M. Campeau, Riku Kiviranta, Kati Tarkkonen, Monica Grover, James T. Lu, Minna Pekkinen, Maija Wessman, Terhi J. Heino, Vappu Nieminen-Pihala, Mira Aronen, Tero Laine, Heikki Kröger, William G. Cole, Anna‐Elina Lehesjoki, Lisette Nevarez, Deborah Krakow, Cynthia J. Curry, Daniel H. Cohn, Richard A. Gibbs, Brendan Lee, Outi Mäkitie

    出版 2013
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  9. 9
    Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

    Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification 由 Sandy Hsu, Renee Sears, Roberta R. Lemos, Beatriz Quintáns, Alden Huang, Elizabeth Spiteri, Lisette Nevarez, Catherine Mamah, Mayana Zatz, Kerrie D. Pierce, Janice M. Fullerton, John C. Adair, Jon Berner, Matthew Bower, Henry Brodaty, Olga Carmona, Valerija Dobričić, Brent L. Fogel, Daniel García-Estevez, Jill Goldman, John L. Goudreau, Suellen Hopfer, Milena Janković, Serge Jaumà, Joanna C. Jen, Suppachok Kirdlarp, Joerg Klepper, Vladimir Kostić, Anthony E. Lang, Agnès Linglart, Melissa K. Maisenbacher, Bala V. Manyam, Pietro Mazzoni, Z Miedzybrodzka, Witoon Mitarnun, Philip B. Mitchell, Jennifer M. Mueller, Ivana Novaković, Martin Paucar, Henry L. Paulson, Sheila A Simpson, Per Svenningsson, Paul Tuite, Jerrold L. Vitek, Suppachok Wetchaphanphesat, Charles A. Williams, Michele Yang, Peter R. Schofield, João Ricardo Mendes de Oliveira, María-Jesús Sobrido, Daniel H. Geschwind, Giovanni Coppola

    出版 2013
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