Search Results - Eichers, Erica

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  1. 1
    Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder

    Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder by Katsanis, Nicholas, Ansley, Stephen J., Badano, Jose L., Eichers, Erica R., Lewis, Richard Alan, Hoskins, Bethan E., Scambler, Peter J., Davidson, William S., Beales, Philip L., Lupski, James R.

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  2. 2
    Inhibition of Neural Crest Migration Underlies Craniofacial Dysmorphology and Hirschsprung's Disease in Bardet-Biedl Syndrome

    Inhibition of Neural Crest Migration Underlies Craniofacial Dysmorphology and Hirschsprung's Disease in Bardet-Biedl Syndrome by Tobin, Jonathan L., Di Franco, Matt, Eichers, Erica, May-Simera, Helen, Garcia, Monica, Yan, Jiong, Quinlan, Robyn, Justice, Monica J., Hennekam, Raoul C., Briscoe, James, Tada, Masazumi, Mayor, Roberto, Burns, Alan J., Lupski, James R., Hammond, Peter, Beales, Philip L.

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  3. 3
    Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet–Biedl syndrome

    Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet–Biedl syndrome by Abd-El-Barr, Muhammad M., Sykoudis, Kristen, Andrabi, Sara, Eichers, Erica R., Pennesi, Mark E., Tan, Perciliz L., Wilson, John H., Katsanis, Nicholas, Lupski, James R., Wu, Samuel M.

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  4. 4
    Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity

    Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity by EICHERS, Erica R, ABD-EL-BARR, Muhammad M, JUSTICE, Monica J, BEALES, Philip L, KATSANIS, Nicholas, LUPSKI, James R, PAYLOR, Richard, LEWIS, Richard Alan, WEIMIN BI, XIAODI LIN, MEEHAN, Thomas P, STOCKTON, David W, WU, Samuel M, LINDSAY, Elizabeth

    Published in Human genetics
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  5. 5
    Newfoundland Rod-Cone Dystrophy, an Early-Onset Retinal Dystrophy, Is Caused by Splice-Junction Mutations in RLBP1

    Newfoundland Rod-Cone Dystrophy, an Early-Onset Retinal Dystrophy, Is Caused by Splice-Junction Mutations in RLBP1 by Eichers, Erica R., Green, Jane S., Stockton, David W., Jackman, Christopher S., Whelan, James, McNamara, J. Arch, Johnson, Gordon J., Lupski, James R., Katsanis, Nicholas

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  6. 6
    BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance

    BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance by Katsanis, Nicholas, Eichers, Erica R., Ansley, Stephen J., Lewis, Richard Alan, Kayserili, Hülya, Hoskins, Bethan E., Scambler, Peter J., Beales, Philip L., Lupski, James R.

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  7. 7
    Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

    Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome by Katsanis, Nicholas, Ansley, Stephen J, Badano, Jose L, Blacque, Oliver E, Hill, Josephine, Hoskins, Bethan E, Leitch, Carmen C, Chul Kim, Jun, Ross, Alison J, Eichers, Erica R, Teslovich, Tanya M, Mah, Allan K, Johnsen, Robert C, Cavender, John C, Alan Lewis, Richard, Leroux, Michel R, Beales, Philip L

    Published in Nature
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  8. 8
    Basal body dysfunction is a likely cause of plelotropic Bardet-Biedl syndrome

    Basal body dysfunction is a likely cause of plelotropic Bardet-Biedl syndrome by ANSLEY, Stephen J, BADANO, Jose L, MAH, Allan K, JOHNSEN, Robert C, CAVENDER, John C, LEWIS, Richard Alan, LEROUX, Michel R, BEALES, Philip L, KATSANIS, Nicholas, BLACQUE, Oliver E, HILL, Josephine, HOSKINS, Bethan E, LEITCH, Carmen C, JUN CHUL KIM, ROSS, Alison J, EICHERS, Erica R, TESLOVICH, Tanya M

    Published in Nature (London)
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