Rezultati - Elizabeth Blue

P364: Mosaic copy gain of 16p with supernumerary chromosome formation: An emerging phenotype od Arthur Lenahan, Ian Glass, Andrew Stergachis, Cate Paschal, Elizabeth Blue, Aimee Allworth, Ingrid Cristian, Danny Miller, Jennifer Morrison

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P099: Mosaic variant in RHOA in an adolescent with a multisystem disorder composed of congenital and progressive anomalies od Aimee Allworth, Ian Glass, Anne Hing, Elizabeth Blue, Elisabeth Rosenthal, Sam Strohbehn, Gail Jarvik, Katrina Dipple, Andrew Stergachis, Virginia Sybert, Jane Ranchalis, Martha Horike-Pyne, Sirisak Chanprasert, Fuki Hisama, Michael Bamshad, James Bennett, Heather Brandling-Bennett, Michelle Cabrera, Mark Wener

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Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function od Mengqi Ma, Yiming Zheng, Mingxi Deng, Shenzhao Lu, Xueyang Pan, Xi Luo, Michelle Etoundi, David Li-Kroeger, Kim C Worley, Lindsay C Burrage, Lauren S Blieden, Aimee Allworth, Wei-Liang Chen, Giuseppe Merla, Barbara Mandriani, Catherine E Otten, Pierre Blanc, Jill A Rosenfeld, Debdeep Dutta, Shinya Yamamoto, Michael F Wangler, Ian A Glass, Jingheng Chen, Elizabeth Blue, Paolo Prontera, Jeremie Rosain, Sandrine Marlin, Seema R Lalani, Hugo J Bellen, Undiagnosed Diseases Network

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