Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
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
Published in Nature genetics (01.10.2016)
Published in Nature genetics (01.10.2016)
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ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
Ng, Bobby G., Shiryaev, Sergey A., Rymen, Daisy, Eklund, Erik A., Raymond, Kimiyo, Kircher, Martin, Abdenur, Jose E., Alehan, Fusun, Midro, Alina T., Bamshad, Michael J., Barone, Rita, Berry, Gerard T., Brumbaugh, Jane E., Buckingham, Kati J., Clarkson, Katie, Cole, F. Sessions, O'Connor, Shawn, Cooper, Gregory M., Van Coster, Rudy, Demmer, Laurie A., Diogo, Luisa, Fay, Alexander J., Ficicioglu, Can, Fiumara, Agata, Gahl, William A., Ganetzky, Rebecca, Goel, Himanshu, Harshman, Lyndsay A., He, Miao, Jaeken, Jaak, James, Philip M., Katz, Daniel, Keldermans, Liesbeth, Kibaek, Maria, Kornberg, Andrew J., Lachlan, Katherine, Lam, Christina, Yaplito-Lee, Joy, Nickerson, Deborah A., Peters, Heidi L., Race, Valerie, Régal, Luc, Rush, Jeffrey S., Rutledge, S. Lane, Shendure, Jay, Souche, Erika, Sparks, Susan E., Trapane, Pamela, Sanchez-Valle, Amarilis, Vilain, Eric, Vøllo, Arve, Waechter, Charles J., Wang, Raymond Y., Wolfe, Lynne A., Wong, Derek A., Wood, Tim, Yang, Amy C., Matthijs, Gert, Freeze, Hudson H.
Published in Human mutation (01.07.2016)
Published in Human mutation (01.07.2016)
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Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
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
Published in Nature genetics (01.02.2017)
Published in Nature genetics (01.02.2017)
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Journal Article
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients: HUMAN MUTATION
Ng, Bobby G., Shiryaev, Sergey A., Rymen, Daisy, Eklund, Erik A., Raymond, Kimiyo, Kircher, Martin, Abdenur, Jose E., Alehan, Fusun, Midro, Alina T., Bamshad, Michael J., Barone, Rita, Berry, Gerard T., Brumbaugh, Jane E., Buckingham, Kati J., Clarkson, Katie, Cole, F. Sessions, O'Connor, Shawn, Cooper, Gregory M., Van Coster, Rudy, Demmer, Laurie A., Diogo, Luisa, Fay, Alexander J., Ficicioglu, Can, Fiumara, Agata, Gahl, William A., Ganetzky, Rebecca, Goel, Himanshu, Harshman, Lyndsay A., He, Miao, Jaeken, Jaak, James, Philip M., Katz, Daniel, Keldermans, Liesbeth, Kibaek, Maria, Kornberg, Andrew J., Lachlan, Katherine, Lam, Christina, Yaplito-Lee, Joy, Nickerson, Deborah A., Peters, Heidi L., Race, Valerie, Régal, Luc, Rush, Jeffrey S., Rutledge, S. Lane, Shendure, Jay, Souche, Erika, Sparks, Susan E., Trapane, Pamela, Sanchez-Valle, Amarilis, Vilain, Eric, Vøllo, Arve, Waechter, Charles J., Wang, Raymond Y., Wolfe, Lynne A., Wong, Derek A., Wood, Tim, Yang, Amy C., Matthijs, Gert, Freeze, Hudson H.
Published in Human mutation (01.07.2016)
Published in Human mutation (01.07.2016)
Get full text
Journal Article