检索结果 - Joshua A. Suhl
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Independent role for presynaptic FMRP revealed by an <i>FMR1</i> missense mutation associated with intellectual disability and seizures 由 Leila K. Myrick, Pan‐Yue Deng, Hideharu Hashimoto, Young Mi Oh, Yongcheol Cho, Mickaël Poidevin, Joshua A. Suhl, Jeannie Visootsak, Valeria Cavalli, Peng Jin, Xiaodong Cheng, Stephen T. Warren, Vitaly A. Klyachko
出版 2015Artigo -
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Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS 由 Donna M. McDonald‐McGinn, Somayyeh Fahiminiya, Timothée Revil, Beata Nowakowska, Joshua A. Suhl, Alice Bailey, Elisabeth E. Mlynarski, David R. Lynch, Albert C. Yan, Larissa T. Bilaniuk, Kathleen E. Sullivan, Stephen T. Warren, Beverly S. Emanuel, Joris Vermeesch, Elaine H. Zackai, Loydie A. Jerome‐Majewska
出版 2012Artigo
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Biology
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FMR1
Fragile X syndrome
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