Результати пошуку - Saskia Koene

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  1. 1
    Mitochondrial medicine: entering the era of treatment

    Mitochondrial medicine: entering the era of treatment за авторством Saskia Koene, Jan Smeitink

    Опубліковано 2009
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  2. 2
    KH176 under development for rare mitochondrial disease: a first in man randomized controlled clinical trial in healthy male volunteers

    KH176 under development for rare mitochondrial disease: a first in man randomized controlled clinical trial in healthy male volunteers за авторством Saskia Koene, Edwin Spaans, Luc Van Bortel, Griet Van Lancker, Brant Delafontaine, Fabio Badilini, Julien Beyrath, Jan Smeitink

    Опубліковано 2017
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  3. 3
    Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation

    Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation за авторством Paul de Laat, Saskia Koene, Lambert P. W. J. den van Heuvel, Richard J. Rodenburg, Mirian C. H. Janssen, Jan Smeitink

    Опубліковано 2012
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  4. 4
    Mitochondrial disorders in children: toward development of small‐molecule treatment strategies

    Mitochondrial disorders in children: toward development of small‐molecule treatment strategies за авторством Werner J.H. Koopman, Julien Beyrath, Cheuk‐Wing Fung, Saskia Koene, Richard J. Rodenburg, Peter H.G.M. Willems, Jan Smeitink

    Опубліковано 2016
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  5. 5
    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 за авторством 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

    Опубліковано 2023
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  6. 6
    New treatments for mitochondrial disease—no time to drop our standards

    New treatments for mitochondrial disease—no time to drop our standards за авторством Gerald Pfeffer, Rita Horváth, Thomas Klopstock, Vamsi K. Mootha, Anu Suomalainen, Saskia Koene, Michio Hirano, Massimo Zeviani, Laurence A. Bindoff, Patrick Yu‐Wai‐Man, Michael G. Hanna, Valério Carelli, Robert McFarland, Kari Majamaa, Douglass M. Turnbull, Jan Smeitink, Patrick F. Chinnery

    Опубліковано 2013
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  7. 7
    Natural disease course and genotype‐phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases

    Natural disease course and genotype‐phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases за авторством Saskia Koene, Richard J. Rodenburg, Marjo S. van der Knaap, Michèl A.A.P. Willemsen, Wolfgang Sperl, Vincent Laugel, Elsebet Østergaard, Mark A. Tarnopolsky, Miguel A. Martı́n, Victoria Nesbitt, Janice M. Fletcher, Simon Edvardson, Vincent Procaccio, Abdelhamid Slama, Lambert P. W. J. den van Heuvel, J.A.M. Smeitink

    Опубліковано 2012
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  8. 8
    The Phenotypic Continuum of <i>ATP1A3</i> -Related Disorders

    The Phenotypic Continuum of <i>ATP1A3</i> -Related Disorders за авторством Aikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, Saskia Koene, Catherine A. Brownstein, Muriel Holder‐Espinasse, Andrew E. Fry, Andrea H. Németh, George K. Tofaris, Eleanor Hay, Imelda Hughes, Sahar Mansour, Santosh Mordekar, Miranda Splitt, Peter D. Turnpenny, D.Z. Demetriou, Tamara T. Koopmann, Claudia Ruivenkamp, Pankaj B. Agrawal, Lucinda Carr, Virginia Clowes, Neeti Ghali, Susan Holder, Jessica A. Radley, Alison Male, Sanjay M. Sisodiya, Manju A. Kurian, J. Helen Cross, Meena Balasubramanian

    Опубліковано 2022
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  9. 9
    International Workshop:

    International Workshop: за авторством Michelangelo Mancuso, Robert McFarland, Thomas Klopstock, Michio Hirano, Rafael Artuch, Enrico Bertini, Laurence A. Bindoff, Valério Carelli, Gráinne S. Gorman, Michio Hirano, Rita Horváth, Petra Kaufmann, Thomas Klopstock, Yasutoshi Koga, Saskia Koene, Costanza Lamperti, Robert McFarland, Michelangelo Mancuso, Julio Montoya, Francisco Javier Pérez-Mínguez Caneda, Vincent Procaccio, Holger Prokisch, Shamima Rahman, P. Santantonio, Markus Schülke, Serenella Servidei, Dikoma C. Shungu, Gabriele Siciliano, Jan Smeitink, Tanja Taivassalo, John L.P. Thompson, Douglass M. Turnbull, Elja van der Veer, Philip E. Yeske, Massimo Zeviani

    Опубліковано 2017
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  10. 10
    Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

    Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome за авторством Federico Tessadori, Karen Duran, Karen Knapp, Matthias Fellner, Sarah Smithson, Ana Beleza‐Meireles, Mariet W. Elting, Quinten Waisfisz, Anne O’Donnell‐Luria, C. Nowak, Jessica Douglas, Anne Ronan, Theresa Brunet, Urania Kotzaeridou, Shayna Svihovec, Margarita Sáenz, Isabelle Thiffault, Florencia Del Viso, Patrick Devine, Shannon Rego, Jessica Tenney, Arie van Haeringen, Claudia Ruivenkamp, Saskia Koene, Stephen P. Robertson, Charulata Deshpande, Rolph Pfundt, Nienke E. Verbeek, Jiddeke M. van de Kamp, Janneke M.M. Weiss, Anna Ruiz, Elisabeth Gabau, Ehud Banne, Alexander Pepler, Armand Bottani, Sacha Laurent, Michel Guipponi, Emilia Bijlsma, Ange‐Line Bruel, Arthur Sorlin, Mary Willis, Zöe Powis, Thomas Smol, Catherine Vincent‐Delorme, Diana Baralle, Estelle Colin, Nicole Revençu, Eduardo Calpena, Andrew O.M. Wilkie, Maya Chopra, Valérie Cormier‐Daire, Boris Keren, Alexandra Afenjar, Marcello Niceta, Antonio Terracciano, Nicola Specchio, Marco Tartaglia, Marlène Rio, Giulia Barcia, Sophie Rondeau, Cindy Colson, Jeroen Bakkers, Peter D. Mace, Louise S. Bicknell, Gijs van Haaften

    Опубліковано 2022
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  11. 11
    Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands

    Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands за авторством Richelle A. C. M. Olde Keizer, Abderrahim Marouane, Wilhelmina S. Kerstjens‐Frederikse, A. Chantal Deden, Klaske D. Lichtenbelt, Tinneke Jonckers, Marieke Vervoorn, Maaike Vreeburg, Lidewij Henneman, Linda S. de Vries, Richard J. Sinke, Rolph Pfundt, Servi J.C. Stevens, Peter Andriessen, Richard A. van Lingen, Marcel Nelen, Hans Scheffer, Daphne Stemkens, Cor Oosterwijk, Hans Kristian Ploos van Amstel, Willem P. de Boode, Wendy A.G. van Zelst–Stams, Geert Frederix, Lisenka E.L.M. Vissers, Lidewij Henneman, Mieke M. van Haelst, Erik A. Sistermans, Martina C. Cornel, Mala Misra‐Isrie, Marcel M.A.M. Mannens, Quinten Waisfisz, Johanna M. van Hagen, Alice S. Brooks, Tahsin Stefan Barakat, Elisabeth H. Hoefsloot, Richard A. van Lingen, Claudia Ruivenkamp, Arie van Haeringen, Saskia Koene, Gijs W.E. Santen, Julie W. Rutten, Bart de Koning, Sam Stevens, Arthur van den Wijngaard, Margje Sinnema, Alexander P.A. Stegmann, Maaike Vreeburg, Marieke Vervoorn, Peter Andriessen, D Kasteel, E. M. Adang, A. Chantal Deden, Han G. Brunner, Willem P. de Boode, Helger G. Yntema, Hans Scheffer, Wendy van Zelst-Stams, Rolph Pfundt, Tjitske Kleefstra, A Marouane, Lisenka E.L.M. Vissers, Tessel Rigter, Wendy Rodenburg, Morris A. Swertz, V.V.A.M. Knoers, Wilhelmina S. Kerstjens‐Frederikse, Richard J. Sinke, K. Joeri van der Velde, Irene M. van Langen, Mariëlle van Gijn, J. Peter van Tintelen, Linda S. de Vries, G. W. J. Frederix, Hans Kristian Ploos van Amstel, Klaske D. Lichtenbelt, Richelle A. C. M. Olde Keizer, Renske Oegema, Cor Oosterwijk, Daphne Stemkens

    Опубліковано 2023
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