Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome
在包含 104 名 Wiedemann-Steiner 综合征患者的多元化队列中,扩展了基因型和表型谱。
期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.62124
Sheppard, Sarah E; Campbell, Ian M; Harr, Margaret H; Gold, Nina; Li, Dong; Bjornsson, Hans T; Cohen, Julie S; Fahrner, Jill A; Fatemi, Ali; Harris, Jacqueline R; Nowak, Catherine; Stevens, Cathy A; Grand, Katheryn; Au, Margaret; Graham, John M Jr; Sanchez-Lara, Pedro A; Campo, Miguel Del; Jones, Marilyn C; Abdul-Rahman, Omar; Alkuraya, Fowzan S; Bassetti, Jennifer A; Bergstrom, Katherine; Bhoj, Elizabeth; Dugan, Sarah; Kaplan, Julie D; Derar, Nada; Gripp, Karen W; Hauser, Natalie; Innes, A Micheil; Keena, Beth; Kodra, Neslida; Miller, Rebecca; Nelson, Beverly; Nowaczyk, Malgorzata J; Rahbeeni, Zuhair; Ben-Shachar, Shay; Shieh, Joseph T; Slavotinek, Anne; Sobering, Andrew K; Abbott, Mary-Alice; Allain, Dawn C; Amlie-Wolf, Louise; Au, Ping Yee Billie; Bedoukian, Emma; Beek, Geoffrey; Barry, James; Berg, Janet; Bernstein, Jonathan A; Cytrynbaum, Cheryl; Chung, Brian Hon-Yin; Donoghue, Sarah; Dorrani, Naghmeh; Eaton, Alison; Flores-Daboub, Josue A; Dubbs, Holly; Felix, Carolyn A; Fong, Chin-To; Fung, Jasmine Lee Fong; Gangaram, Balram; Goldstein, Amy; Greenberg, Rotem; Ha, Thoa K; Hersh, Joseph; Izumi, Kosuke; Kallish, Staci; Kravets, Elijah; Kwok, Pui-Yan; Jobling, Rebekah K; Knight Johnson, Amy E; Kushner, Jessica; Lee, Bo Hoon; Levin, Brooke; Lindstrom, Kristin; Manickam, Kandamurugu; Mardach, Rebecca; McCormick, Elizabeth; McLeod, D Ross; Mentch, Frank D; Minks, Kelly; Muraresku, Colleen; Nelson, Stanley F; Porazzi, Patrizia; Pichurin, Pavel N; Powell-Hamilton, Nina N; Powis, Zoe; Ritter, Alyssa; Rogers, Caleb; Rohena, Luis; Ronspies, Carey; Schroeder, Audrey; Stark, Zornitza; Starr, Lois; Stoler, Joan; Suwannarat, Pim; Velinov, Milen; Weksberg, Rosanna; Wilnai, Yael; Zadeh, Neda; Zand, Dina J; Falk, Marni J; Hakonarson, Hakon; Zackai, Elaine H; Quintero-Rivera, Fabiola