المؤلفون: Nikkel, Sarah M, Dauber, Andrew, de Munnik, Sonja, Connolly, Meghan, Hood, Rebecca L, Caluseriu, Oana, Hurst, Jane, Kini, Usha, Nowaczyk, Malgorzata J M, Afenjar, Alexandra, Albrecht, Beate, Allanson, Judith E, Balestri, Paolo, Ben-Omran, Tawfeg, Brancati, Francesco, Cordeiro, Isabel, da Cunha, Bruna Santos, Delaney, Louisa A, Destrée, Anne, Fitzpatrick, David, Forzano, Francesca, Ghali, Neeti, Gillies, Greta, Harwood, Katerina, Hendriks, Yvonne M C, Héron, Delphine, Hoischen, Alexander, Honey, Engela Magdalena, Hoefsloot, Lies H, Ibrahim, Jennifer, Jacob, Claire M, Kant, Sarina G, Kim, Chong Ae, Kirk, Edwin P, Knoers, Nine V A M, Lacombe, Didier, Lee, Chung, Lo, Ivan F M, Lucas, Luiza S, Mari, Francesca, Mericq, Veronica, Moilanen, Jukka S, Møller, Sanne Traasdahl, Moortgat, Stephanie, Pilz, Daniela T, Pope, Kate, Price, Susan, Renieri, Alessandra, Sá, Joaquim, Schoots, Jeroen, Silveira, Elizabeth L, Simon, Marleen E H, Slavotinek, Anne, Temple, I Karen, van der Burgt, Ineke, de Vries, Bert B A, Weisfeld-Adams, James D, Whiteford, Margo L, Wierczorek, Dagmar, Wit, Jan M, Yee, Connie Fung On, Beaulieu, Chandree L, cpgdsconsortium@cheo.on.ca, White, Sue M, Bulman, Dennis E, Bongers, Ernie, Brunner, Han, Feingold, Murray, Boycott, Kym M

المصدر: Orphanet Journal of Rare Diseases. 8(1)

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6r91w5r2Test

المؤلفون: Park, Julien H., Hogrebe, Max, Grüneberg, Marianne, DuChesne, Ingrid, von der Heiden, Ava L., Reunert, Janine, Schlingmann, Karl P., Boycott, Kym M., Beaulieu, Chandree L., Mhanni, Aziz A., Innes, A. Micheil, Hörtnagel, Konstanze, Biskup, Saskia, Gleixner, Eva M., Kurlemann, Gerhard, Fiedler, Barbara, Omran, Heymut, Rutsch, Frank, Wada, Yoshinao, Tsiakas, Konstantinos, Santer, René, Nebert, Daniel W., Rust, Stephan, Marquardt, Thorsten

المصدر: The American Journal of Human Genetics ; volume 97, issue 6, page 894-903 ; ISSN 0002-9297

الإتاحة: https://doi.org/10.1016/j.ajhg.2015.11.003Test
https://api.elsevier.com/content/article/PII:S0002929715004486?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929715004486?httpAccept=text/plainTest

المؤلفون: Boycott, Kym M., Beaulieu, Chandree L., Kernohan, Kristin D., Gebril, Ola H., Mhanni, Aziz, Chudley, Albert E., Redl, David, Qin, Wen, Hampson, Sarah, Küry, Sébastien, Tetreault, Martine, Puffenberger, Erik G., Scott, James N., Bezieau, Stéphane, Reis, André, Uebe, Steffen, Schumacher, Johannes, Hegele, Robert A., McLeod, D. Ross, Gálvez-Peralta, Marina, Majewski, Jacek, Ramaekers, Vincent T., Nebert, Daniel W., Innes, A. Micheil, Parboosingh, Jillian S., Abou Jamra, Rami

المصدر: The American Journal of Human Genetics ; volume 97, issue 6, page 886-893 ; ISSN 0002-9297

الإتاحة: https://doi.org/10.1016/j.ajhg.2015.11.002Test
https://api.elsevier.com/content/article/PII:S0002929715004474?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929715004474?httpAccept=text/plainTest

المؤلفون: Venkateswaran, Sunita, Myers, Ken A., Smith, Amanda C., Beaulieu, Chandree L., Schwartzentruber, Jeremy A., Majewski, Jacek, Bulman, Dennis, Boycott, Kym M., Dyment, David A.

المساهمون: Government of Canada, Canadian Institutes of Health Research (CIHR), Ontario Genomics Institute, Genome Quebec and Genome British Columbia

المصدر: Epilepsia ; volume 55, issue 7 ; ISSN 0013-9580 1528-1167

الإتاحة: https://doi.org/10.1111/epi.12663Test

المؤلفون: McDonell, Laura M, Warman Chardon, Jodi, Schwartzentruber, Jeremy, Foster, Denise, Beaulieu, Chandree L, Majewski, Jacek, Bulman, Dennis E, Boycott, Kym M

المصدر: BMC Neurology ; volume 14, issue 1 ; ISSN 1471-2377

مصطلحات موضوعية: Neurology (clinical), General Medicine

الإتاحة: https://doi.org/10.1186/1471-2377-14-22Test

المؤلفون: McMillan, Hugh J, Schwartzentruber, Jeremy, Smith, Amanda, Lee, Suzie, Chakraborty, Pranesh, Bulman, Dennis E, Beaulieu, Chandree L, Majewski, Jacek, Boycott, Kym M, Geraghty, Michael T

المصدر: BMC Medical Genetics ; volume 15, issue 1 ; ISSN 1471-2350

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1186/1471-2350-15-36Test

المؤلفون: Beaulieu, Chandree L., Majewski, Jacek, Schwartzentruber, Jeremy, Samuels, Mark E., Fernandez, Bridget A., Bernier, Francois P., Brudno, Michael, Knoppers, Bartha, Marcadier, Janet, Dyment, David, Adam, Shelin, Bulman, Dennis E., Jones, Steve J.M., Avard, Denise, Nguyen, Minh Thu, Rousseau, Francois, Marshall, Christian, Wintle, Richard F., Shen, Yaoqing, Scherer, Stephen W., Friedman, Jan M., Michaud, Jacques L., Boycott, Kym M.

المصدر: The American Journal of Human Genetics ; volume 94, issue 6, page 809-817 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2014.05.003Test
https://api.elsevier.com/content/article/PII:S0002929714002237?httpAccept=text/plainTest
https://api.elsevier.com/content/article/PII:S0002929714002237?httpAccept=text/xmlTest

المؤلفون: Nikkel, Sarah M., Dauber, Andrew, De Munnik, Sonja, Connolly, Meghan, Hood, Rebecca L, Caluseriu, Oana, Hurst, Jane, Kini, Usha, Nowaczyk, Malgorzata J.M., Afenjar, Alexandra, Albrecht, Beate, Allanson, Judith E., Balestri, Paolo, Ben-Omran, Tawfeg, Brancati, Francesco, Cordeiro, Isabel, Da Cunha, Bruna Santos, Delaney, Louisa A., Destree, Anne, Fitzpatrick, David, Forzano, Francesca, Ghali, Neeti, Gillies, Greta, Harwood, Katerina, Hendriks, Yvonne M.C., Heron, Delphine, Hoischen, Alexander, Honey, Engela M., Hoefsloot, Lies H., Ibrahim, Jennifer, Jacob, Claire M., Kant, Sarina G., Kim, Chong Ae, Kirk, Edwin P., Knoers, Nine V.A.M., Lacombe, Didier, Lee, Chung, Lo, Ivan F.M., Lucas, Luiza S., Mari, Francesca, Mericq, Veronica, Moilanen, Jukka S., Møller, Sanne Traasdahl, Moortgat, Stephanie, Pilz, Daniela T., Pope, Kate, Price, Susan, Renieri, Alessandra, Sa, Joaquim, Schoots, Jeroen, Silveira, Elizabeth L., Simon, Marleen E.H., Slavotinek, Anne, Temple, I. Karen, Van der Burgt, Ineke, De Vries, Bert B.A., Weisfeld-Adams, James D., Whiteford, Margo L., Wit, Jan M., Yee, Connie Fung On, Beaulieu, Chandree L., FORGE Canada Consortium, White, Sue M., Bulman, Dennis E., Bongers, Ernie, Brunner, Han, Feingold, Murray, Boycott, Kym M.

مصطلحات موضوعية: SRCAP, Phenotype, Short stature, Floating-Harbor syndrome (FHS)

وصف الملف: application/pdf

العلاقة: Nikkel et al.: The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. Orphanet Journal of Rare Diseases 2013 8:63.; http://hdl.handle.net/2263/40307Test

الإتاحة: https://doi.org/10.1186/1750-1172-8-63Test
http://hdl.handle.net/2263/40307Test

المؤلفون: Beaulieu, Chandree L, Huang, Lijia, Innes, A Micheil, Akimenko, Marie-Andree, Puffenberger, Erik G, Schwartz, Charles, Jerry, Paul, Ober, Carole, Hegele, Robert A, McLeod, D Ross, Schwartzentruber, Jeremy, Majewski, Jacek, Bulman, Dennis E, Parboosingh, Jillian S, Boycott, Kym M

المصدر: Orphanet Journal of Rare Diseases ; volume 8, issue 1 ; ISSN 1750-1172

مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine

الإتاحة: https://doi.org/10.1186/1750-1172-8-62Test

المؤلفون: Moffatt, Pierre, Ben Amor, Mouna, Glorieux, Francis H., Roschger, Paul, Klaushofer, Klaus, Schwartzentruber, Jeremy A., Paterson, Andrew D., Hu, Pingzhao, Marshall, Christian, Fahiminiya, Somayyeh, Majewski, Jacek, Beaulieu, Chandree L., Boycott, Kym M., Rauch, Frank

المصدر: The American Journal of Human Genetics ; volume 92, issue 2, page 252-258 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2012.12.001Test
https://api.elsevier.com/content/article/PII:S0002929712006350?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929712006350?httpAccept=text/plainTest