Research for Rare - Research for rare diseases

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Paper of the month

13. May 2019 (GeNeRARe)
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

Am J Hum Genet. 2019 May 13. pii: S0002-9297(19)30161-2. doi: 10.1016/j.ajhg.2019.04.013. [Epub ahead of print]

Capri Y, Flex E, Krumbach OHF, Carpentieri G, Cecchetti S, Lißewski C, Rezaei Adariani S, Schanze D, Brinkmann J, Piard J, Pantaleoni F, Lepri FR, Goh ES, Chong K, Stieglitz E, Meyer J, Kuechler A, Bramswig NC, Sacharow S, Strullu M, Vial Y, Vignal C, Kensah G, Cuturilo G, Kazemein Jasemi NS, Dvorsky R, Monaghan KG, Vincent LM, Cavé H, Verloes A, Ahmadian MR, Tartaglia M, Zenker M.

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