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  • BH4-deficient hyperphenylalaninemia in Russia

    Polina Gundorova, Irina A. Kuznetcova, Galina V. Baydakova, Anna A. Stepanova, Yulia S. Itkis, Victoria S. Kakaulina, Irina P. Alferova, Lidya V. Lyazina, Lilya P. Andreeva, Ilya Kanivets, Ekaterina Y. Zakharova, Sergey I. Kutsev, Aleksander V. Polyakov

    published 06 Apr 2021

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  • Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing

    Rowida Almomani, Margherita Marchi, Maurice Sopacua, Patrick Lindsey, Erika Salvi, Bart de Koning, Silvia Santoro, Stefania Magri, Hubert J. M. Smeets, Filippo Martinelli Boneschi, Rayaz R. Malik, Dan Ziegler, Janneke G. J. Hoeijmakers, Gidon Bönhof, Sulayman Dib-Hajj, Stephen G. Waxman, Ingemar S. J. Merkies, Giuseppe Lauria, Catharina G. Faber, Monique M. Gerrits, on behalf on the PROPANE Study Group

    published 02 Sep 2020

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