Search Results - Esther Nibbeling

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  1. 1
    Using the shared genetics of dystonia and ataxia to unravel their pathogenesis

    Using the shared genetics of dystonia and ataxia to unravel their pathogenesis by Esther Nibbeling, Cathérine C.S. Delnooz, Tom J. de Koning, Richard J. Sinke, Hyder A. Jinnah, Marina A.J. Tijssen, Dineke S. Verbeek

    Published 2017
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    Revisão
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  2. 2
    Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context

    Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context by Michelle van Slobbe, Arie van Haeringen, Lisenka E.L.M. Vissers, Emilia K. Bijlsma, Julie W. Rutten, Manon Suerink, Esther Nibbeling, Claudia Ruivenkamp, Saskia Koene

    Published 2023
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    Artigo
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  3. 3
    Mitochondrial hyperpolarization during chronic complex I inhibition is sustained by low activity of complex II, III, IV and V

    Mitochondrial hyperpolarization during chronic complex I inhibition is sustained by low activity of complex II, III, IV and V by Marleen Forkink, Ganesh R. Manjeri, Dania C. Liemburg-Apers, Esther Nibbeling, Maxime G. Blanchard, Aleksandra Wojtala, Jan Smeitink, Mariusz R. Więckowski, Peter H.G.M. Willems, Werner J.H. Koopman

    Published 2014
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    Artigo
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  4. 4
    From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care

    From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care by Maayke A. de Koning, Monique C. Haak, P. N. Adama van Scheltema, Cacha Peeters‐Scholte, Tamara T. Koopmann, Esther Nibbeling, Emmelien Aten, Nicolette S. den Hollander, Claudia Ruivenkamp, Mariëtte J.V. Hoffer, Gijs W.E. Santen

    Published 2019
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  5. 5
    SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway

    SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway by Simon T. Cliffe, Jamie M. Kramer, Khalid Hussain, Joris H. Robben, Eiko K. de Jong, Arjan Pm de Brouwer, Esther Nibbeling, Erik‐Jan Kamsteeg, Melanie Wong, Julie Prendiville, Chela James, Raja Padidela, Charlie Becknell, Hans van Bokhoven, Peter M.T. Deen, Raoul C. M. Hennekam, Robert Lindeman, Annette Schenck, Tony Roscioli, Michael F. Buckley

    Published 2009
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    Artigo
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  6. 6
    Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia

    Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia by Esther Nibbeling, Anna Duarri, Corien C. Verschuuren‐Bemelmans, Michiel R. Fokkens, Juha Karjalainen, Cleo J. L. M. Smeets, Jelkje J. de Boer-Bergsma, Gerben van der Vries, Dennis Dooijes, Giovana Bampi, Cleo C. van Diemen, E. R. Brunt, Elly F. Ippel, Berry Kremer, Monique H.M. Vlak, Noam Adir, Cisca Wijmenga, Bart P.C. van de Warrenburg, Lude Franke, Richard J. Sinke, Dineke S. Verbeek

    Published 2017
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    Artigo
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  7. 7
    KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

    KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants by Joanna Kennedy, David Goudie, Edward Blair, Kate Chandler, Shelagh Joss, Victoria McKay, Andrew Green, Ruth Armstrong, Melissa Lees, Benjamin Kamien, Bruce Hopper, Tiong Yang Tan, Patrick Yap, Zornitza Stark, Nobuhiko Okamoto, Noriko Miyake, Naomichi Matsumoto, Ellen F. Macnamara, Jennifer L. Murphy, Elizabeth M. McCormick, Hákon Hákonarson, Marni J. Falk, Dong Li, Patrick R. Blackburn, Eric W. Klee, Dusica Babovic‐Vuksanovic, Susan Schelley, Louanne Hudgins, Sarina G. Kant, Bertrand Isidor, Benjamin Cogné, Kimberley Bradbury, Mark Williams, Chirag Patel, Helen Heussler, Celia Duff‐Farrier, Phillis Lakeman, Ingrid Scurr, Usha Kini, Mariet Elting, Margot R.F. Reijnders, Janneke Schuurs-Hoeijmakers, Mohamed Wafik, Anne Blomhoff, Claudia Ruivenkamp, Esther Nibbeling, Alexander J.M. Dingemans, Emilie D. Douine, Stanley F. Nelson, Maja Hempel, Tatjana Bierhals, Davor Lessel, Jessika Johannsen, Valerie A. Arboleda, Ruth Newbury‐Ecob

    Published 2018
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