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- j.ajhg.2011.12.004 author "Baumann M, Giunta C, Krabichler B, Ruschendorf F, Zoppi N, Colombi M, Bittner RE, Quijano-Roy S, Muntoni F, Cirak S, Schreiber G, Zou Y, Hu Y, Romero NB, Carlier RY, Amberger A, Deutschmann A, Straub V, Rohrbach M, Steinmann B, Rostasy K, Karall D, Bonnemann CG, Zschocke J, Fauth C".
- j.ajhg.2011.12.004 date "2012".
- j.ajhg.2011.12.004 doi "10.1016/j.ajhg.2011.12.004".
- j.ajhg.2011.12.004 isCitedBy Mega2,_the_Manipulation_Environment_for_Genetic_Analysis.
- j.ajhg.2011.12.004 issue "2".
- j.ajhg.2011.12.004 journal "Am J Hum Genet".
- j.ajhg.2011.12.004 pages "201–216".
- j.ajhg.2011.12.004 title "Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss".
- j.ajhg.2011.12.004 volume "90".