Rezultati - Fleur van Dijk

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  1. 1
    Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation

    Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation od D.L. Polla, Andrew C. Edmondson, Sandrine Duvet, Michael March, Ana Berta Sousa, Anna Lehman, Dmitriy Niyazov, Fleur van Dijk, Serwet Demirdas, Marjon A. van Slegtenhorst, Anneke J.A. Kievit, Céline Schulz, Linlea Armstrong, Xin Bi, Daniel J. Rader, Kosuke Izumi, Elaine H. Zackai, Elisa De Franco, Paula Jorge, Sophie C. Huffels, Marina P. Hommersom, Sian Ellard, Dirk J. Lefeber, Avni Santani, Nicholas J. Hand, Hans van Bokhoven, Miao He, Arjan P.M. de Brouwer

    Izdano 2021
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  2. 2
    Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study

    Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study od Jeanne Wolstencroft, Francesca Wicks, Ramya Srinivasan, Sarah Wynn, Tamsin Ford, Kate Baker, Samuel J. R. A. Chawner, Jérémy Hall, Marianne B. M. van den Bree, Michael J. Owen, Jeanne Wolstencroft, Francesca Wicks, Ramya Srinivasan, Marie Erwood, David Lafont, Husne Timur, Zheng Ye, Susan Walker, Frida Printzlau, Manoj Juj, Sarah Davies, Hayley Denyer, Alice Watkins, Eleanor Kerry, Nadia Coscini, Nasrtullah Fatih, Anna Lucock, Spiros Denaxas, William Mandy, Neil Walker, Sarah B. Wallwork, Eleanor Dewhurst, Andrew Cuthbert, Aimée Challenger, Sophie C. Andrews, Peter Holmans, Samantha Bowen, Karen Bradley, Philippa Birch, Molly Tong, Nicola S. Lewis, Sinead Ray, Matthew Sopp, Hayley Moss, Sarah Wynn, Beverley A. Searle, Lisa Robertson, Jonathan Berg, Anne Lampe, Shelagh Joss, Paul Brennan, Alison Kraus, Nayana Lahiri, Astrid Weber, Myfanwy Rawson, Diana Johnson, Pradeep Vasudevan, Rachel Harrison, Denise Williams, Eamonn R. Maher, Usha Kini, Fleur van Dijk, Virginia Clowes, Jana Gurasashvilli, Sahar Mansour, Muriel Holder-Espinasse, Amy Watford, Julia Rankin, Diana Baralle, Annie Procter, Tamsin Ford, Kate Baker, Samuel J. R. A. Chawner, Jérémy Hall, Marianne B. M. van den Bree, Michael J. Owen, David Skuse, F. Lucy Raymond, David Skuse, F. Lucy Raymond

    Izdano 2022
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