Search Results - Janecke, A.R

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  1. 1
    Mutations in Pycr1 cause progeroid changes in skin and bone due to reduced mitochondrial stress resistance

    Mutations in Pycr1 cause progeroid changes in skin and bone due to reduced mitochondrial stress resistance by Reversade, B, Escande-Beillard, N, Dimopoulou, A, Fischer, B, Li, Y, Kayserili, H, Al-Gazali, L, Brancati, F, Lee, H, O'Connor, B, Kornak, U, Schmidt-von Kegler, M, Merriman, B, Nelson, S.F, Masri, A, Guerra, D, nanda, A, Rajab, A, Grix, A, Sommer, A, Janecke, A.R, Steichen, E, Nürnberg, P, Seemann, P, Zambruno, G, Dallapiccola, B, Schuelke, M, Robertson, S, Hamamy, H, Wollnik, B, Van Maldergem, L, Mundlos, S

    Published in Bone (New York, N.Y.)
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  2. 2
    A recognizable type of syndromic short stature with arthrogryposis caused by bi‐allelic SEMA3A loss‐of‐function variants

    A recognizable type of syndromic short stature with arthrogryposis caused by bi‐allelic SEMA3A loss‐of‐function variants by Baumann, M., Steichen‐Gersdorf, E., Krabichler, B., Müller, T., Janecke, A.R.

    Published in Clinical genetics
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