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pro vyhledávání: '"Sinnathuray, Kanaga R."'
Akademický článek
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Autor:
Jenkinson, Emma M., Rodero, Mathieu P., Kasher, Paul R., Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C., Rose, Yoann, Kershaw, Christopher J., Urquhart, Jill E., Williams, Simon G., Bhaskar, Sanjeev S., O Sullivan, James, Baerlocher, Gabriela M., Haubitz, Monika, Aubert, Geraldine, Baranano, Kristin W., Barnicoat, Angela J., Battini, Roberta, Berger, Andrea, Blair, Edward M., Brunstrom-Hernandez, Janice E., Buckard, Johannes A., Cassiman, David M., Caumes, Rosaline, Cordelli, Duccio M., Waele, Liesbeth M., Fay, Alexander J., Ferreira, Patrick, Fletcher, Nicholas A., Fryer, Alan E., Goel, Himanshu, Hemingway, Cheryl A., Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G., Lourenco, Charles M., Malpas, Timothy J., Mehta, Sarju G., Metz, Imke, Naidu, Sakkubai, Ounap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Gerardine, Schiffmann, Raphael, Sherr, Elliott H., Sinnathuray, Kanaga R., Soh, Calvin, Stewart, Helen S., Stone, John, Esch, Hilde, Mol, Christine E. G., Vanderver, Adeline, Wakeling, Emma L., Whitney, Andrea, Graham Pavitt, Griffiths-Jones, Sam, Rice, Gillian I., Revy, Patrick, Knaap, Marjo S., Livingston, John H., O Keefe, Raymond T., Crow, Yanick J.
Publikováno v:
ResearcherID
Nature genetics, 49(2). Nature Publishing Group
Nature genetics, 49(2). Nature Publishing Group
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::67ebcbeeea181a1cadb9999eb836241c
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000393148600024&KeyUID=WOS:000393148600024
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000393148600024&KeyUID=WOS:000393148600024
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Jenkinson, Emma M, Rodero, Mathieu P, Kasher, Paul R, Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C, Rose, Yoann, Kershaw, Christopher J, Urquhart, Jill E, Williams, Simon G, Bhaskar, Sanjeev S, O'Sullivan, James, Baerlocher, Gabriela M, Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W, Barnicoat, Angela J, Battini, Roberta, Berger, Andrea, Blair, Edward M, Brunstrom-Hernandez, Janice E, Buckard, Johannes A, Cassiman, David M, Caumes, Rosaline, Cordelli, Duccio M, De Waele, Liesbeth M, Fay, Alexander J, Ferreira, Patrick, Fletcher, Nicholas A, Fryer, Alan E, Goel, Himanshu, Hemingway, Cheryl A, Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J, Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G, Lourenço, Charles M, Malpas, Timothy J, Mehta, Sarju G, Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Gerardine, Schiffmann, Raphael, Sherr, Elliott H, Sinnathuray, Kanaga R, Soh, Calvin, Stewart, Helen S, Stone, John, Van Esch, Hilde, Van Mol, Christine E G, Vanderver, Adeline, Wakeling, Emma L, Whitney, Andrea, Pavitt, Graham D, Griffiths-Jones, Sam, Rice, Gillian I, Revy, Patrick, van der Knaap, Marjo S, Livingston, John H, O'Keefe, Raymond T, Crow, Yanick J
Publikováno v:
Nature Genetics; February 2017, Vol. 49 Issue: 2 p317-317, 1p
Autor:
Elliott H. Sherr, Edward Blair, Charles Marques Lourenço, James O'Sullivan, Imke Metz, Paul R. Kasher, Gabriela M. Baerlocher, Adeline Vanderver, David Cassiman, Himanshu Goel, Nicholas A. Fletcher, Patrick Ferreira, Patrick Revy, Emma Wakeling, Ram L. Kumar, Lieven Lagae, Christopher J. Kershaw, Pierre Landrieu, Andrea Whitney, Calvin Soh, Christine E. G. van Mol, Sakkubai Naidu, John H. Livingston, Geraldine Aubert, H. Stewart, Laurence C. Goosey, Liesbeth De Waele, Kristin W. Barañano, Rosalind J. Jefferson, Axel Panzer, Gerardine Quaghebeur, Raphael Schiffmann, Yanick J. Crow, Hilde Van Esch, Raymond T. O'Keefe, Jill E. Urquhart, Alan Fryer, Mathieu P Rodero, Alex J. Fay, Monika Haubitz, Andrea Berger, Johannes A. Buckard, Cheryl Hemingway, Angela Barnicoat, Sam Griffiths-Jones, Duccio Maria Cordelli, Imelda Hughes, Katrin Õunap, Graham D. Pavitt, Roberta Battini, Yoann Rose, Marjo S. van der Knaap, Sanjeev S. Bhaskar, John Stone, Gillian I. Rice, Marco Henneke, Kanaga R. Sinnathuray, Emma M. Jenkinson, Timothy J. Malpas, Simon G. Williams, Anthony Oojageer, Carolina Uggenti, Rosaline Caumes, Prab Prabhakar, Sarju G. Mehta, Janice E. Brunstrom-Hernandez
Publikováno v:
Jenkinson, E M, Rodero, M P, Kasher, P R, Uggenti, C, Oojageer, A, Goosey, L C, Rose, Y, Kershaw, C J, Urquhart, J E, Williams, S G, Bhaskar, S S, O'Sullivan, J, Baerlocher, G M, Haubitz, M, Aubert, G, Baranano, K W, Barnicoat, A J, Battini, R, Berger, A, Blair, E M, Brunstrom-Hernandez, J E, Buckard, J A, Cassiman, D M, Caumes, R, Cordelli, D M, De Waele, L M, Fay, A J, Ferreira, P, Fletcher, N A, Fryer, A E, Goel, H, Hemingway, C A, Henneke, M, Hughes, I, Jefferson, R J, Kumar, R, Lagae, L, Landrieu, P G, Lourenco, C M, Malpas, T J, Mehta, S G, Metz, I, Naidu, S, Ounap, K, Panzer, A, Prabhakar, P, Quaghebeur, G, Schiffmann, R, Sherr, E H, Sinnathuray, K R, Soh, C, Stewart, H S, Stone, J, Van Esch, H, Van Mol, C E G, Vanderver, A, Wakeling, E L, Whitney, A, Pavitt, G D, Griffiths-Jones, S, Rice, G I, Revy, P, van der Knaap, M S, Livingston, J H, O'Keefe, R T & Crow, Y J 2016, ' Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts ', Nature Genetics, vol. 48, no. 10, pp. 1185-1192 . https://doi.org/10.1038/ng.3661
Nature Genetics
Nature Genetics, Nature Publishing Group, 2016, 48 (10), pp.1185-1192. ⟨10.1038/NG.3661⟩
Nature genetics, 48(10), 1185-1192. Nature Publishing Group
Jenkinson, E, Rodero, M P, Kasher, P, Uggenti, C, Oojageer, A, Goosey, L, Rose, Y, Urquhart, J, Williams, S, Bhaskar, S S, O'Sullivan, J, Baerlocher, G M, Haubitz, M, Aubert, G, Barañano, K W, Barnicoat, A J, Battini, R, Berger, A, Blair, E M, Brunstrom-Hernandez, J E, Buckard, J A, Cassiman, D M, Caumes, R, Cordelli, D M, De Waele, L M, Fay, A J, Ferreira, P, Fletcher, N A, Fryer, A E, Goel, H, Hemingway, C A, Henneke, M, Hughes, I, Jefferson, R J, Kumar, R, Lagae, L, Landrieu, P G, Lourenço, C M, Malpas, T J, Mehta, S G, Metz, I, Naidu, S, Õunap, K, Panzer, A, Prabhakar, P, Quaghebeur, G, Schiffmann, R, Sherr, E H, Sinnathuray, K R, Soh, C, Stewart, H, Stone, J, Van Esch, H, Van Mol, C E G, Vanderver, A, Wakeling, E L, Whitney, A, Pavitt, G, Griffiths-Jones, S, Rice, G, Revy, P, van der Knaap, M S, Livingston, J H, O'Keefe, R, Crow, Y & Kershaw, C 2016, ' Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts ', Nature Genetics, vol. 48, no. 10, pp. 1185–1192 . https://doi.org/10.1038/ng.3661
Nature Genetics, 48(10), 1185-1192. Nature Publishing Group
Nature Genetics
Nature Genetics, Nature Publishing Group, 2016, 48 (10), pp.1185-1192. ⟨10.1038/NG.3661⟩
Nature genetics, 48(10), 1185-1192. Nature Publishing Group
Jenkinson, E, Rodero, M P, Kasher, P, Uggenti, C, Oojageer, A, Goosey, L, Rose, Y, Urquhart, J, Williams, S, Bhaskar, S S, O'Sullivan, J, Baerlocher, G M, Haubitz, M, Aubert, G, Barañano, K W, Barnicoat, A J, Battini, R, Berger, A, Blair, E M, Brunstrom-Hernandez, J E, Buckard, J A, Cassiman, D M, Caumes, R, Cordelli, D M, De Waele, L M, Fay, A J, Ferreira, P, Fletcher, N A, Fryer, A E, Goel, H, Hemingway, C A, Henneke, M, Hughes, I, Jefferson, R J, Kumar, R, Lagae, L, Landrieu, P G, Lourenço, C M, Malpas, T J, Mehta, S G, Metz, I, Naidu, S, Õunap, K, Panzer, A, Prabhakar, P, Quaghebeur, G, Schiffmann, R, Sherr, E H, Sinnathuray, K R, Soh, C, Stewart, H, Stone, J, Van Esch, H, Van Mol, C E G, Vanderver, A, Wakeling, E L, Whitney, A, Pavitt, G, Griffiths-Jones, S, Rice, G, Revy, P, van der Knaap, M S, Livingston, J H, O'Keefe, R, Crow, Y & Kershaw, C 2016, ' Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts ', Nature Genetics, vol. 48, no. 10, pp. 1185–1192 . https://doi.org/10.1038/ng.3661
Nature Genetics, 48(10), 1185-1192. Nature Publishing Group
Although ribosomes are ubiquitous and essential for life, recent data indicate that monogenic causes of ribosomal dysfunction can confer a remarkable degree of specificity in terms of human disease phenotype. Box C/D small nucleolar RNAs (snoRNAs) ar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::248a31034cff185ba949cc59f4e8808a
https://research.vumc.nl/en/publications/141c9dc6-3b6e-460f-aaab-733525abdf55
https://research.vumc.nl/en/publications/141c9dc6-3b6e-460f-aaab-733525abdf55