检索结果 - Janneke Weiss

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  1. 1
    Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients

    Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients 由 Tamara Paff, Irsan Kooi, Youssef Moutaouakil, Elise Riesebos, Erik A. Sistermans, Hans Daniels, Janneke Weiss, Hans W.M. Niessen, Eric G. Haarman, Gerard Pals, Dimitra Micha

    出版 2018
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  2. 2
    Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

    Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations 由 Ratna Tripathy, Ines Leca, Tessa van Dijk, Janneke Weiss, Bregje W.M. van Bon, Maria Christina Sergaki, Thomas Gstrein, Martin W. Breuss, Guoling Tian, Nadia Bahi‐Buisson, Alexander Paciorkowski, Alistair T. Pagnamenta, Andrea Wenninger-Weinzierl, Maria Fernanda Martinez-Reza, Lukas Landler, Stefano Lise, Jenny C. Taylor, Gaetano Terrone, Giuseppina Vitiello, Ennio Del Giudice, Nicola Brunetti‐Pierri, Alessandra D’Amico, Alexandre Reymond, Norine Voisin, Jonathan A. Bernstein, Ellyn Farrelly, Usha Kini, Thomas A. Leonard, Stéphanie Valence, Lydie Bürglen, Linlea Armstrong, Susan M. Hiatt, Gregory M. Cooper, Kimberly A. Aldinger, William B. Dobyns, Ghayda Mirzaa, Tyler Mark Pierson, Frank Baas, Jamel Chelly, Nicholas J. Cowan, David A. Keays

    出版 2018
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  3. 3
    Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

    Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects 由 Terry Vrijenhoek, Ken Kraaijeveld, Martin Elferink, Joep de Ligt, Elcke Kranendonk, Gijs W.E. Santen, Isaäc J. Nijman, Derek Butler, Godelieve R.F. Claes, Adalberto Costessi, Wim Dorlijn, Winfried van Eyndhoven, Dicky Halley, Mirjam C. G. N. van den Hout, Steven van Hove, Lennart Johansson, Jan D.H. Jongbloed, Rick Kamps, Christel Kockx, Bart de Koning, Marjolein Kriek, Ronald Lekanne dit Deprez, Hans Lunstroo, Marcel M.A.M. Mannens, Olaf R.F. Mook, Marcel Nelen, M.C. Ploem, Marco Rijnen, Jasper J. Saris, Richard J. Sinke, Erik A. Sistermans, Marjon van Slegtenhorst, Frank Sleutels, Nienke van der Stoep, Marianne van Tienhoven, Martijn Vermaat, Maartje J. Vogel, Quinten Waisfisz, Janneke Weiss, Arthur van den Wijngaard, Wilbert van Workum, Helger Ijntema, Bert van der Zwaag, Wilfred F. J. van IJcken, Johan T. den Dunnen, Joris A. Veltman, Raoul C. M. Hennekam, Edwin Cuppen

    出版 2015
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