Výsledky vyhledávání - du Souich, Christèle

Coffin-Siris Syndrome: Phenotypic evolution of a novel SMARCA4 mutation Autor Tzeng, Michael, du Souich, Christèle, Cheung, Helen Wing-Hong, Boerkoel, Cornelius F.

Získat plný text Získat plný text Získat plný text

The Genomic Consultation Service: A clinical service designed to improve patient selection for genome‐wide sequencing in British Columbia Autor Elliott, Alison M., du Souich, Christèle, Adam, Shelin, Dragojlovic, Nick, van Karnebeek, Clara, Nelson, Tanya N., Lehman, Anna, Lynd, Larry D., Friedman, Jan M.

Získat plný text Získat plný text Získat plný text

Phenotypic Evolution of UNC80 Loss of Function Autor Valkanas, Elise, Schaffer, Katherine, Dunham, Christopher, Maduro, Valerie, du Souich, Christèle, Rupps, Rosemarie, Adams, David R., Baradaran-Heravi, Alireza, Flynn, Elise, Malicdan, May C., Gahl, William A., Toro, Camilo, Boerkoel, Cornelius F.

Získat plný text Získat plný text Získat plný text

Somatic mosaicism detected by genome-wide sequencing in 500 parent–child trios with suspected genetic disease: clinical and genetic counseling implications Autor Cook, Courtney B., Armstrong, Linlea, Boerkoel, Cornelius F., Clarke, Lorne A., du Souich, Christèle, Demos, Michelle K., Gibson, William T., Gill, Harinder, Lopez, Elena, Patel, Millan S., Selby, Kathryn, Abu-Sharar, Ziad, Elliott, Alison M., Friedman, Jan M.

Získat plný text Získat plný text Získat plný text

Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability Autor Maduro, Valerie, Pusey, Barbara N., Cherukuri, Praveen F., Atkins, Paul, du Souich, Christèle, Rupps, Rosemarie, Limbos, Marjolaine, Adams, David R., Bhatt, Samarth S., Eydoux, Patrice, Links, Amanda E., Lehman, Anna, Malicdan, May C., Mason, Christopher E., Morimoto, Marie, Mullikin, James C., Sear, Andrew, Van Karnebeek, Clara, Stankiewicz, Pawel, Gahl, William A., Toro, Camilo, Boerkoel, Cornelius F.

Získat plný text Získat plný text Získat plný text

Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome Autor McLarren, Keith W., Severson, Tesa M., du Souich, Christèle, Stockton, David W., Kratz, Lisa E., Cunningham, David, Hendson, Glenda, Morin, Ryan D., Wu, Diane, Paul, Jessica E., An, Jianghong, Nelson, Tanya N., Chou, Athena, DeBarber, Andrea E., Merkens, Louise S., Michaud, Jacques L., Waters, Paula J., Yin, Jingyi, McGillivray, Barbara, Demos, Michelle, Rouleau, Guy A., Grzeschik, Karl-Heinz, Smith, Raffaella, Tarpey, Patrick S., Shears, Debbie, Schwartz, Charles E., Gecz, Jozef, Stratton, Michael R., Arbour, Laura, Hurlburt, Jane, Van Allen, Margot I., Herman, Gail E., Zhao, Yongjun, Moore, Richard, Kelley, Richard I., Jones, Steven J.M., Steiner, Robert D., Raymond, F. Lucy, Marra, Marco A., Boerkoel, Cornelius F.

Získat plný text Získat plný text Získat plný text

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study Autor Elliott, Alison M., Adam, Shelin, du Souich, Christèle, Lehman, Anna, Nelson, Tanya N., van Karnebeek, Clara, Alderman, Emily, Armstrong, Linlea, Aubertin, Gudrun, Blood, Katherine, Boelman, Cyrus, Boerkoel, Cornelius, Bretherick, Karla, Brown, Lindsay, Chijiwa, Chieko, Clarke, Lorne, Couse, Madeline, Creighton, Susan, Watts-Dickens, Abby, Gibson, William T., Gill, Harinder, Tarailo-Graovac, Maja, Hamilton, Sara, Heran, Harindar, Horvath, Gabriella, Huang, Lijia, Hulait, Gurdip K., Koehn, David, Lee, Hyun Kyung, Lewis, Suzanne, Lopez, Elena, Louie, Kristal, Niederhoffer, Karen, Matthews, Allison, Meagher, Kirsten, Peng, Junran J., Patel, Millan S., Race, Simone, Richmond, Phillip, Rupps, Rosemarie, Salvarinova, Ramona, Seath, Kimberly, Selby, Kathryn, Steinraths, Michelle, Stockler, Sylvia, Tang, Kaoru, Tyson, Christine, van Allen, Margot, Wasserman, Wyeth, Mwenifumbo, Jill, Friedman, Jan M.

Získat plný text Získat plný text Získat plný text