Showing 1 - 8 results of 8 for search '"Waqas, Meriam"', query time: 1.04s Refine Results  

Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay

by Yang, Gui Xiang, Lu, Henry, Sharma, Mehul, Worley, Kim C, Del Bel, Kate L, Kozak, Frederick K, Biggs, Catherine M, Lalani, Seema R, Henkelman, Erika, Lehman, Anna, Adams, David R, Alvarez, Raquel L, Alvey, Justin, Bale, Jim, Bamshad, Michael, Bayrak-Toydemir, Pinar, Bejerano, Gill, Bellen, Hugo J, Bennett, Jimmy, Berry, Gerard T, Bivona, Stephanie, Blue, Elizabeth, Bonner, Devon, Brokamp, Elly, Carrasquillo, Olveen, Chang, TaChen Peter, Coggins, Matthew, Craigen, William J, D’Souza, Precilla, Dai, Hongzheng, Davis, Joie, Dayal, Jyoti G, Duncan, Laura, Falk, Marni, Fieg, Elizabeth L, Gahl, William A, Don Hadley, Sihoun Hahn, Hassey, Kelly, High, Frances, Hisama, Fuki M, Holm, Ingrid A, Hom, Jason, Huang, Alden, Introne, Wendy, Kilich, Gonench, Kobren, Shilpa N, Kohane, Isaac S, Kohler, Jennefer N, Korrick, Susan, Krakow, Deborah, Lewis, Richard A, Loo, Sandra K, Loscalzo, Joseph, Mahoney, Rachel, Malicdan, MayChristine V, Manolio, Teri A, Marth, Gabor, Martínez-Agosto, Julian A, McCauley, Jacob, McGee, Elisabeth, Mefford, Heather, Mirzaa, Ghayda, Mulvihill, John, Nakano-Okuno, Mariko, Orengo, James P, Pace, Laura, Pak, Stephen, Papp, Jeanette C, PhillipsIII, John A, Quinlan, Aaron, Raper, Anna, Robertson, Amy K, Sacco, Ralph, Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A, Shin, Jimann, Silverman, Edwin K, Sisco, Kathy, Smith, Kevin S, Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C, Sullivan, Jennifer A, Sybert, Virginia, Tabor, Holly K, Tan, Amelia LM, Ungar, Rachel A, Velinder, Matt, Vogel, Tiphanie P, Wambach, Jennifer, Wan, Jijun, Hubshman, Monika Weisz, Wener, Mark, Wolfe, Lynne A, Yamamoto, Shinya, Yang, John, Zuchner, Stephan
Published in Journal of medical genetics (01.11.2023)

Get full text
Journal Article