@article{UBHD-68262335, author={Anikster, Yair and Shen, Nan}, title={Biallelic mutations in DNAJC12 cause hyperphenylalaninemia, dystonia, and intellectual disability}, year={2017}, pages={257-266}, language={eng}, issn={1537-6605}, volume={100}, number={2}, note={ Available online 26 January 2017 ; Gesehen am 18.06.2018}, journal={The American journal of human genetics}, doi={10.1016/j.ajhg.2017.01.002}, } @article{UBHD-67995550, author={Blau, Nenad and Shen, Nan}, title={Molecular genetics and diagnosis of phenylketonuria}, subtitle={state of the art}, year={2014}, pages={655-671}, language={eng}, issn={1744-8352}, volume={14}, number={6}, note={Gesehen am 15.04.2016}, journal={Expert review of molecular diagnostics}, doi={10.1586/14737159.2014.923760}, } @article{UBHD-68476504, author={Himmelreich, Nastassja and Shen, Nan and Okun, J{\"u}rgen G. and Thiel, Christian and Hoffmann, Georg F. and Blau, Nenad}, title={Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria}, year={2018}, pages={86-95}, language={eng}, issn={1096-7206}, volume={125}, number={1}, note={Available online 23 June 2018 ; Gesehen am 15.01.2020}, journal={Molecular genetics and metabolism}, doi={10.1016/j.ymgme.2018.06.011}, } @article{UBHD-68210743, author={Pan, Yi and Shen, Nan and Jung-Klawitter, Sabine and Betzen, Christian and Hoffmann, Georg F. and Blau, Nenad}, title={CRISPR RNA-guided FokI nucleases repair a PAH variant in a phenylketonuria model}, year={2016}, pages={7 S.}, language={eng}, issn={2045-2322}, volume={6(2016) Article number: 35794}, number={7 Seiten}, note={Gesehen am 17.01.2018}, journal={Scientific reports}, doi={10.1038/srep35794}, } @article{UBHD-68491640, author={Shen, Nan and Du, Jun and Zhou, Hui and Chen, Nan and Pan, Yi and Hoheisel, J{\"o}rg D. and Jiang, Zonghui and Xiao, Ling and Tao, Yue and Mo, Xi}, title={A diagnostic panel of DNA methylation biomarkers for lung adenocarcinoma}, year={2019}, pages={9 S.}, language={eng}, issn={2234-943X}, volume={9(2019) Artikelnummer 1281}, number={9 Seiten}, note={Gesehen am 20.02.2020}, journal={Frontiers in oncology}, doi={10.3389/fonc.2019.01281}, } @article{UBHD-68494910, author={Shen, Nan and Heintz, Caroline and Thiel, Christian and Okun, J{\"u}rgen G. and Hoffmann, Georg F. and Blau, Nenad}, title={Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation}, year={2016}, pages={328-335}, language={eng}, issn={1096-7206}, volume={117}, number={3}, note={Gesehen am 28.02.2020}, journal={Molecular genetics and metabolism}, doi={10.1016/j.ymgme.2016.01.004}, } @book{UBHD-68132796, author={Shen, Nan}, organization={Universit{\"a}t Heidelberg}, title={Molecular genetics of phenylketonuria and the development of a new therapeutic approach}, subtitle={from phenomics to therapy}, address={Heidelberg}, year={2016}, pages={95 Seiten}, language={eng}, school={Dissertation, Ruprecht-Karls-Universit{\"a}t Heidelberg, 2017}, library={UB [Signatur: 2017 U 455]}, } @article{UBHD-68556374, author={Spronsen, F. J. van and Himmelreich, Nastassja and R{\"u}fenacht, Véronique and Shen, Nan and Vliet, Danique van and Al-Owain, Mohammed and Ramzan, Khushnooda and Alkhalifi, Salwa M. and Lunsing, Roelineke J. and Heiner-Fokkema, Rebecca M. and Rassi, Anahita and Gemperle-Britschgi, Corinne and Hoffmann, Georg F. and Blau, Nenad and Th{\"o}ny, Beat}, title={Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia}, subtitle={from attention deficit to severe dystonia and intellectual disability}, year={2018}, pages={249-253}, language={eng}, issn={1468-6244}, volume={55}, number={4}, note={Gesehen am 23.03.2020 ; Published online first 9 August 2017}, journal={Journal of medical genetics}, doi={10.1136/jmedgenet-2017-104875}, } @article{UBHD-68163310, author={Trunzo, Roberta and Shen, Nan and Jung-Klawitter, Sabine and Blau, Nenad}, title={In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU}, year={2016}, pages={138-143}, language={eng}, issn={1879-0038}, volume={594}, number={1}, note={Gesehen am 07.09.2017}, journal={Gene}, doi={10.1016/j.gene.2016.09.015}, }