Zobrazeno 1 - 10
of 576
pro vyhledávání: '"Stevenson Roger E"'
Autor:
Levy, Brynn, Liu, Jie, Iqbal, M. Anwar, DuPont, Barbara, Sahajpal, Nikhil, Ho, Monique, Yu, Jingwei, Brody, Sam J., Ganapathi, Mythily, Rajkovic, Aleksandar, Smolarek, Teresa A., Boyar, Fatih, Bui, Peter, Dubuc, Adrian M., Kolhe, Ravindra, Stevenson, Roger E.
Publikováno v:
In The Journal of Molecular Diagnostics October 2024 26(10):906-916
Autor:
Haghshenas, Sadegheh, Karimi, Karim, Stevenson, Roger E., Levy, Michael A., Relator, Raissa, Kerkhof, Jennifer, Rzasa, Jessica, McConkey, Haley, Lauzon-Young, Carolyn, Balci, Tugce B., White-Brown, Alexandre M., Carter, Melissa T., Richer, Julie, Armour, Christine M., Sawyer, Sarah L., Bhola, Priya T., Tedder, Matthew L., Skinner, Cindy D., van Rooij, Iris A.L.M., van de Putte, Romy, de Blaauw, Ivo, Koeck, Rebekka M., Hoischen, Alexander, Brunner, Han, Esteki, Masoud Zamani, Pelet, Anna, Lyonnet, Stanislas, Amiel, Jeanne, Boycott, Kym M., Sadikovic, Bekim
Publikováno v:
In The American Journal of Human Genetics 8 August 2024 111(8):1643-1655
Autor:
Kerkhof, Jennifer, Rastin, Cassandra, Levy, Michael A., Relator, Raissa, McConkey, Haley, Demain, Leigh, Dominguez-Garrido, Elena, Kaat, Laura Donker, Houge, Sofia Douzgou, DuPont, Barbara R., Fee, Timothy, Fletcher, Robin S., Gokhale, David, Haukanes, Bjørn Ivar, Henneman, Peter, Hilton, Sarah, Hilton, Benjamin A., Jenkinson, Sarah, Lee, Jennifer A., Louie, Raymond J., Motazacker, M. Mahdi, Rzasa, Jessica, Stevenson, Roger E., Plomp, Astrid, van der Laan, Liselot, van der Smagt, Jasper, Walden, Kellie K., Banka, Siddharth, Mannens, Marcel, Skinner, Steven A., Friez, Michael J., Campbell, Christopher, Tedder, Matthew L., Alders, Marielle, Sadikovic, Bekim
Publikováno v:
In Genetics in Medicine May 2024 26(5)
Autor:
Celestino-Soper Patrícia BS, Skinner Cindy, Schroer Richard, Eng Patricia, Shenai Jayant, Nowaczyk Malgorzata MJ, Terespolsky Deborah, Cushing Donna, Patel Gayle S, Immken LaDonna, Willis Alecia, Wiszniewska Joanna, Matalon Reuben, Rosenfeld Jill A, Stevenson Roger E, Kang Sung-Hae L, Cheung Sau, Beaudet Arthur L, Stankiewicz Pawel
Publikováno v:
Molecular Cytogenetics, Vol 5, Iss 1, p 17 (2012)
Abstract Interstitial deletions of the short arm of chromosome 6 are rare and have been associated with developmental delay, hypotonia, congenital anomalies, and dysmorphic features. We used array comparative genomic hybridization in a South Carolina
Externí odkaz:
https://doaj.org/article/6b33cf3605f24009b5cbbc295234f8e2
Autor:
Bosch, Elisabeth, Popp, Bernt, Güse, Esther, Skinner, Cindy, van der Sluijs, Pleuntje J., Maystadt, Isabelle, Pinto, Anna Maria, Renieri, Alessandra, Bruno, Lucia Pia, Granata, Stefania, Marcelis, Carlo, Baysal, Özlem, Hartwich, Dewi, Holthöfer, Laura, Isidor, Bertrand, Cogne, Benjamin, Wieczorek, Dagmar, Capra, Valeria, Scala, Marcello, De Marco, Patrizia, Ognibene, Marzia, Jamra, Rami Abou, Platzer, Konrad, Carter, Lauren B., Kuismin, Outi, van Haeringen, Arie, Maroofian, Reza, Valenzuela, Irene, Cuscó, Ivon, Martinez-Agosto, Julian A., Rabani, Ahna M., Mefford, Heather C., Pereira, Elaine M., Close, Charlotte, Anyane-Yeboa, Kwame, Wagner, Mallory, Hannibal, Mark C., Zacher, Pia, Thiffault, Isabelle, Beunders, Gea, Umair, Muhammad, Bhola, Priya T., McGinnis, Erin, Millichap, John, van de Kamp, Jiddeke M., Prijoles, Eloise J., Dobson, Amy, Shillington, Amelle, Graham, Brett H., Garcia, Evan-Jacob, Galindo, Maureen Kelly, Ropers, Fabienne G., Nibbeling, Esther A.R., Hubbard, Gail, Karimov, Catherine, Goj, Guido, Bend, Renee, Rath, Julie, Morrow, Michelle M., Millan, Francisca, Salpietro, Vincenzo, Torella, Annalaura, Nigro, Vincenzo, Kurki, Mitja, Stevenson, Roger E., Santen, Gijs W.E., Zweier, Markus, Campeau, Philippe M., Severino, Mariasavina, Reis, André, Accogli, Andrea, Vasileiou, Georgia
Publikováno v:
In Genetics in Medicine November 2023 25(11)
Autor:
MacMillan Andrée, Macgregor David, Holinski-Feder Elke, Mangelsdorf Marie, Finnis Merran, Cason A Lauren, Stepp Monica L, Holden Jeanette JA, Gecz Jozef, Stevenson Roger E, Schwartz Charles E
Publikováno v:
BMC Medical Genetics, Vol 6, Iss 1, p 16 (2005)
Abstract Background X-linked mental retardation (XLMR) is the leading cause of mental retardation in males. Mutations in the ARX gene in Xp22.1 have been found in numerous families with both nonsyndromic and syndromic XLMR. The most frequent mutation
Externí odkaz:
https://doaj.org/article/338cd399448d4c11b86065723c7421b5
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Autor:
Pauly, Rini, Cascio, Lauren, Srikanth, Sujata, Jones, Kelly, Sorrow, Skylar, Cubillan, Rossana, Chen, Chin-Fu, Skinner, Cindy D., Champaigne, Kevin, Stevenson, Roger E., Schwartz, Charles E., Boccuto, Luigi *
Publikováno v:
In Research in Autism Spectrum Disorders July 2021 85
Publikováno v:
In The Journal of Pediatrics November 2020 226:186-194