檢索結果 - Kevin M. Barnes

Loss-of-function variant in SPIN4 causes an X-linked overgrowth syndrome 由 Julian C. Lui, Jacob Wagner, Elaine Zhou, Lijin Dong, Kevin M. Barnes, Youn Hee Jee, Jeffrey Baron

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Variants in WASHC3, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism 由 Youn Hee Jee, Julian C. Lui, Dana Marafi, Zhi-Jie Xia, Ruchika Bhatia, Elaine Zhou, Isabella Herman, Adrian Temnycky, Philip Whalen, Gene Elliot, Ellen W. Leschek, Robin Wijngaard, Ronald van Beek, Annemarie de Vreugd, Maaike C. de Vries, Clara D.M. van Karnebeek, Machteld M. Oud, Thomas C. Markello, Kevin M. Barnes, Hadil Alrohaif, Hudson H. Freeze, William A. Gahl, May Christine V. Malicdan, Jennifer E. Posey, James R. Lupski, Jeffrey Baron

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