Hasil Pencarian - S Slegtenhorst

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  1. 1
    Altered synaptobrevin-II trafficking in neurons expressing a synaptophysin mutation associated with a severe neurodevelopmental disorder

    Altered synaptobrevin-II trafficking in neurons expressing a synaptophysin mutation associated with a severe neurodevelopmental disorder oleh Callista B. Harper, Grazia M.S. Mancini, Marjon van Slegtenhorst, Michael A. Cousin

    Diterbitkan 2017-12-01
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  2. 2
    TGF-β-activated kinase 1 (TAK1) signaling regulates TGF-β-induced WNT-5A expression in airway smooth muscle cells via Sp1 and β-catenin.

    TGF-β-activated kinase 1 (TAK1) signaling regulates TGF-β-induced WNT-5A expression in airway smooth muscle cells via Sp1 and β-catenin. oleh Kuldeep Kumawat, Mark H Menzen, Ralph M Slegtenhorst, Andrew J Halayko, Martina Schmidt, Reinoud Gosens

    Diterbitkan 2014-01-01
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  3. 3
    Isobutyryl‐CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report

    Isobutyryl‐CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report oleh Maria Eleftheriadou, Evita Medici‐ van den Herik, Kyra Stuurman, Yolande vanBever, Debby M. E. I. Hellebrekers, Marjon vanSlegtenhorst, George Ruijter, Tahsin Stefan Barakat

    Diterbitkan 2021-02-01
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  4. 4
    COVID on the Seas: SARS-CoV-2 in Commercial Shipping, Port of Rotterdam, The Netherlands, 2020–2021

    COVID on the Seas: SARS-CoV-2 in Commercial Shipping, Port of Rotterdam, The Netherlands, 2020–2021 oleh Edward Gebuis, Bruno Vieyra, Rob Slegtenhorst, Saskia Wiegmans, Bas van Dijk, Thijs Veenstra, Saskia Tejland, Ewout Fanoy, Annemieke de Raad, Marion Koopmans, René de Vries, Saskia van Leeuwen-Voerman, Jane Whelan

    Diterbitkan 2022-12-01
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  5. 5
    Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes

    Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes oleh Fenja Markus, Chloé Angelini, Aurelien Trimouille, Gabrielle Rudolf, Gaetan Lesca, Cyril Goizet, Eulalie Lasseaux, Benoit Arveiler, Marjon vanSlegtenhorst, Alice S. Brooks, Rami Abou Jamra, Georg‐Christoph Korenke, John Neidhardt, Marta Owczarek‐Lipska

    Diterbitkan 2020-09-01
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  6. 6
    Novel Morphological Features on CMR for the Prediction of Pathogenic Sarcomere Gene Variants in Subjects Without Hypertrophic Cardiomyopathy

    Novel Morphological Features on CMR for the Prediction of Pathogenic Sarcomere Gene Variants in Subjects Without Hypertrophic Cardiomyopathy oleh Nikki van der Velde, Nikki van der Velde, Roy Huurman, H. Carlijne Hassing, H. Carlijne Hassing, Ricardo P. J. Budde, Marjon A. van Slegtenhorst, Judith M. A. Verhagen, Arend F. L. Schinkel, Michelle Michels, Alexander Hirsch, Alexander Hirsch

    Diterbitkan 2021-09-01
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  7. 7
    TFAP2B Haploinsufficiency Impacts Gastrointestinal Function and Leads to Pediatric Intestinal Pseudo-obstruction

    TFAP2B Haploinsufficiency Impacts Gastrointestinal Function and Leads to Pediatric Intestinal Pseudo-obstruction oleh Almira Zada, Laura E. Kuil, Bianca M. de Graaf, Naomi Kakiailatu, Jonathan D. Windster, Jonathan D. Windster, Alice S. Brooks, Marjon van Slegtenhorst, Barbara de Koning, René M. H. Wijnen, Veerle Melotte, Veerle Melotte, Robert M. W. Hofstra, Erwin Brosens, Maria M. Alves

    Diterbitkan 2022-07-01
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  8. 8
    FLNC missense variants in familial noncompaction cardiomyopathy

    FLNC missense variants in familial noncompaction cardiomyopathy oleh Jaap I. van Waning, Yvonne M. Hoedemaekers, Wouter P. te Rijdt, Arne I. Jpma, Daphne Heijsman, Kadir Caliskan, Elke S. Hoendermis, Tineke P. Willems, Arthur van den Wijngaard, Albert Suurmeijer, Marjon A. van Slegtenhorst, Jan D.H. Jongbloed, Danielle F. Majoor-Krakauer, Paul A. van der Zwaag

    Diterbitkan 2019-10-01
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  9. 9
    Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants

    Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants oleh Willem Bosman, Gijs A. C. Franken, Javier de las Heras, Leire Madariaga, Tahsin Stefan Barakat, Rianne Oostenbrink, Marjon van Slegtenhorst, Ana Perdomo-Ramírez, Félix Claverie-Martín, Albertien M. van Eerde, Rosa Vargas-Poussou, Laurence Derain Dubourg, Irene González-Recio, Luis Alfonso Martínez-Cruz, Jeroen H. F. de Baaij, Joost G. J. Hoenderop

    Diterbitkan 2024-03-01
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  10. 10
    Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome

    Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome oleh Daphne J. Smits, Jordy Dekker, Hannie Douben, Rachel Schot, Helen Magee, Somayeh Bakhtiari, Katrin Koehler, Angela Huebner, Markus Schuelke, Hossein Darvish, Shohreh Vosoogh, Abbas Tafakhori, Melika Jameie, Ehsan Taghiabadi, Yana Wilson, Margit Shah, Marjon A. van Slegtenhorst, Evita G. Medici-van den Herik, Tjakko J. van Ham, Michael C. Kruer, Grazia M.S. Mancini

    Diterbitkan 2024-10-01
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  11. 11
    Human mutations in integrator complex subunits link transcriptome integrity to brain development.

    Human mutations in integrator complex subunits link transcriptome integrity to brain development. oleh Renske Oegema, David Baillat, Rachel Schot, Leontine M van Unen, Alice Brooks, Sima Kheradmand Kia, A Jeannette M Hoogeboom, Zheng Xia, Wei Li, Matteo Cesaroni, Maarten H Lequin, Marjon van Slegtenhorst, William B Dobyns, Irenaeus F M de Coo, Frans W Verheijen, Andreas Kremer, Peter J van der Spek, Daphne Heijsman, Eric J Wagner, Maarten Fornerod, Grazia M S Mancini

    Diterbitkan 2017-05-01
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  12. 12
    Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion

    Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion oleh Janne J. M. van Schie, Atiq Faramarz, Jesper A. Balk, Grant S. Stewart, Erika Cantelli, Anneke B. Oostra, Martin A. Rooimans, Joanna L. Parish, Cynthia de Almeida Estéves, Katja Dumic, Ingeborg Barisic, Karin E. M. Diderich, Marjon A. van Slegtenhorst, Mohammad Mahtab, Francesca M. Pisani, Hein te Riele, Najim Ameziane, Rob M. F. Wolthuis, Job de Lange

    Diterbitkan 2020-08-01
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  13. 13
    Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development.

    Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development. oleh Renske Oegema, David Baillat, Rachel Schot, Leontine M van Unen, Alice Brooks, Sima Kheradmand Kia, A Jeannette M Hoogeboom, Zheng Xia, Wei Li, Matteo Cesaroni, Maarten H Lequin, Marjon van Slegtenhorst, William B Dobyns, Irenaeus F M de Coo, Debbie van den Berg, Frans W Verheijen, Andreas Kremer, Peter J van der Spek, Daphne Heijsman, Eric J Wagner, Maarten Fornerod, Grazia M S Mancini

    Diterbitkan 2017-08-01
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  14. 14
    Biallelic variants in FLII cause pediatric cardiomyopathy by disrupting cardiomyocyte cell adhesion and myofibril organization

    Biallelic variants in FLII cause pediatric cardiomyopathy by disrupting cardiomyocyte cell adhesion and myofibril organization oleh Claudine W.B. Ruijmbeek, Filomena Housley, Hafiza Idrees, Michael P. Housley, Jenny Pestel, Leonie Keller, Jason K.H. Lai, Herma C. van der Linde, Rob Willemsen, Janett Piesker, Zuhair N. Al-Hassnan, Abdulrahman Almesned, Michiel Dalinghaus, Lisa M. van den Bersselaar, Marjon A. van Slegtenhorst, Federico Tessadori, Jeroen Bakkers, Tjakko J. van Ham, Didier Y.R. Stainier, Judith M.A. Verhagen, Sven Reischauer

    Diterbitkan 2023-09-01
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  15. 15
    Corrigendum: Intrafamilial variability in SLC6A1-related neurodevelopmental disorders

    Corrigendum: Intrafamilial variability in SLC6A1-related neurodevelopmental disorders oleh Benedetta Kassabian, Benedetta Kassabian, Christina Dühring Fenger, Christina Dühring Fenger, Marjolaine Willems, Angel Aledo-Serrano, Tarja Linnankivi, Pamela Pojomovsky McDonnell, Pamela Pojomovsky McDonnell, Pamela Pojomovsky McDonnell, Laina Lusk, Birgit Susanne Jepsen, Michael Bayat, Anja A. Kattentidt-Mouravieva, Anna Abulí Vidal, Gabriel Valero-Lopez, Helena Alarcon-Martinez, Kimberly Goodspeed, Kimberly Goodspeed, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Tahsin Stefan Barakat, Tahsin Stefan Barakat, Rikke S. Møller, Rikke S. Møller, Katrine M. Johannesen, Katrine M. Johannesen, Guido Rubboli, Guido Rubboli

    Diterbitkan 2023-08-01
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  16. 16
    Intrafamilial variability in SLC6A1-related neurodevelopmental disorders

    Intrafamilial variability in SLC6A1-related neurodevelopmental disorders oleh Benedetta Kassabian, Benedetta Kassabian, Christina Dühring Fenger, Christina Dühring Fenger, Marjolaine Willems, Angel Aledo-Serrano, Tarja Linnankivi, Pamela Pojomovsky McDonnell, Pamela Pojomovsky McDonnell, Pamela Pojomovsky McDonnell, Laina Lusk, Birgit Susanne Jepsen, Michael Bayat, Anja A. Kattentidt-Mouravieva, Anna Abulí Vidal, Gabriel Valero-Lopez, Helena Alarcon-Martinez, Kimberly Goodspeed, Kimberly Goodspeed, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Tahsin Stefan Barakat, Tahsin Stefan Barakat, Rikke S. Møller, Rikke S. Møller, Katrine M. Johannesen, Katrine M. Johannesen, Guido Rubboli, Guido Rubboli

    Diterbitkan 2023-07-01
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  17. 17
    Psychological Well-Being of Parents of Very Young Children With Type 1 Diabetes – Baseline Assessment

    Psychological Well-Being of Parents of Very Young Children With Type 1 Diabetes – Baseline Assessment oleh Carine de Beaufort, Carine de Beaufort, Ineke M. Pit-ten Cate, Ulrike Schierloh, Nathan Cohen, Charlotte K. Boughton, Martin Tauschmann, Martin Tauschmann, Martin Tauschmann, Janet M. Allen, Janet M. Allen, Katrin Nagl, Maria Fritsch, Maria Fritsch, James Yong, Emily Metcalfe, Dominique Schaeffer, Muriel Fichelle, Alena G. Thiele, Daniela Abt, Kerstin Faninger, Julia K. Mader, Sonja Slegtenhorst, Nicole Ashcroft, Malgorzata E. Wilinska, Malgorzata E. Wilinska, Judy Sibayan, Craig Kollman, Sabine E. Hofer, Elke Fröhlich-Reiterer, Thomas M. Kapellen, Carlo L. Acerini, Fiona Campbell, Birgit Rami-Merhar, Roman Hovorka, Roman Hovorka

    Diterbitkan 2021-08-01
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  18. 18
    Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

    Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies oleh Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes, Yee Mang Ho, Phillip Grote, Tobias T. Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, TUDP consortium, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J. Olson, Eric W. Klee, Brendan C. Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R. Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L. Cohen, Kacie Riley, Victoria Klee, Laurence E. Walsh, Matthias Begemann, Miriam Elbracht, Thomas Eggermann, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S. Mulhern, Tristan T. Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C. Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S. Woolf, Jennifer E. Posey, James R. Lupski, Benjamin Odermatt, Alina C. Hilger

    Diterbitkan 2024-03-01
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  19. 19
    Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

    Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy oleh Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker-Ravi, Hankun Li, Sarah Pierce, Élise Lebigot, Thong-Teck Tan, Michelle Y. Eio, Gunaseelan Narayanan, Kagistia Hana Utami, Monica Yau, Nader Handal, Werner Deigendesch, Reinhard Keimer, Hiyam M. Marzouqa, Meral Gunay-Aygun, Michael J. Muriello, Helene Verhelst, Sarah Weckhuysen, Sonal Mahida, Sakkubai Naidu, Terrence G. Thomas, Jiin Ying Lim, Ee Shien Tan, Damien Haye, Michèl A. A. P. Willemsen, Renske Oegema, Wendy G. Mitchell, Tyler Mark Pierson, Marisa V. Andrews, Marcia C. Willing, Lance H. Rodan, Tahsin Stefan Barakat, Marjon van Slegtenhorst, Ralitza H. Gavrilova, Diego Martinelli, Tal Gilboa, Abdullah M. Tamim, Mais O. Hashem, Moeenaldeen D. AlSayed, Maha M. Abdulrahim, Mohammed Al-Owain, Ali Awaji, Adel A. H. Mahmoud, Eissa A. Faqeih, Ali Al Asmari, Sulwan M. Algain, Lamyaa A. Jad, Hesham M. Aldhalaan, Ingo Helbig, David A. Koolen, Angelika Riess, Ingeborg Kraegeloh-Mann, Peter Bauer, Suleyman Gulsuner, Hannah Stamberger, Alvin Yu Jin Ng, Sha Tang, Sumanty Tohari, Boris Keren, Laura E. Schultz-Rogers, Eric W. Klee, Sabina Barresi, Marco Tartaglia, Hagar Mor-Shaked, Sateesh Maddirevula, Amber Begtrup, Aida Telegrafi, Rolph Pfundt, Rebecca Schüle, Brian Ciruna, Carine Bonnard, Mahmoud A. Pouladi, James C. Stewart, Adam Claridge-Chang, Dirk J. Lefeber, Fowzan S. Alkuraya, Ajay S. Mathuru, Byrappa Venkatesh, Joseph J. Barycki, Melanie A. Simpson, Saumya S. Jamuar, Ludger Schöls, Bruno Reversade

    Diterbitkan 2020-01-01
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  20. 20
    Cambridge hybrid closed-loop algorithm in children and adolescents with type 1 diabetes: a multicentre 6-month randomised controlled trial

    Cambridge hybrid closed-loop algorithm in children and adolescents with type 1 diabetes: a multicentre 6-month randomised controlled trial oleh Julia Ware, MD, Charlotte K Boughton, PhD, Janet M Allen, RN, Malgorzata E Wilinska, PhD, Martin Tauschmann, PhD, Louise Denvir, MD, Ajay Thankamony, MPhil, Fiona M Campbell, MD, R Paul Wadwa, ProfMD, Bruce A Buckingham, ProfMD, Nikki Davis, MD, Linda A DiMeglio, ProfMD, Nelly Mauras, MD, Rachel E J Besser, PhD, Atrayee Ghatak, MD, Stuart A Weinzimer, ProfMD, Korey K Hood, ProfPhD, D Steven Fox, MD, Lauren Kanapka, MSc, Craig Kollman, PhD, Judy Sibayan, MPH, Roy W Beck, PhD, Roman Hovorka, ProfPhD, R Hovorka, C L Acerini, A Thankamony, J M Allen, C K Boughton, K Dovc, D B Dunger, J Ware, G Musolino, M Tauschmann, M E Wilinska, J F Hayes, S Hartnell, S Slegtenhorst, Y Ruan, M Haydock, J Mangat, L Denvir, SK Kanthagnany, J Law, T Randell, P Sachdev, M Saxton, A Coupe, S Stafford, A Ball, R Keeton, R Cresswell, L Crate, H Cripps, H Fazackerley, L Looby, H Navarra, C Saddington, V Smith, V Verhoeven, S Bratt, N Khan, L Moyes, K Sandhu, C West, R P Wadwa, G Alonso, G Forlenza, R Slover, L Towers, C Berget, A Coakley, E Escobar, E Jost, S Lange, L Messer, K Thivener, F M Campbell, J Yong, E Metcalfe, M Allen, S Ambler, S Waheed, J Exall, J Tulip, B A Buckingham, L Ekhlaspour, D Maahs, L Norlander, T Jacobson, M Twon, C Weir, B Leverenz, J Keller, N Davis, A Kumaran, N Trevelyan, H Dewar, G Price, G Crouch, R Ensom, L Haskell, LM Lueddeke, N Mauras, M Benson, K Bird, K Englert, J Permuy, K Ponthieux, J Marrero-Hernandez, L A DiMeglio, H Ismail, H Jolivette, J Sanchez, S Woerner, M Kirchner, M Mullen, M Tebbe, R EJ Besser, S Basu, R London, T Makaya, F Ryan, C Megson, J Bowen-Morris, J Haest, R Law, I Stamford, A Ghatak, M Deakin, K Phelan, K Thornborough, J Shakeshaft, S A Weinzimer, E Cengiz, J L Sherr, M Van Name, K Weyman, L Carria, A Steffen, M Zgorski, J Sibayan, R W Beck, S Borgman, J Davis, J Rusnak, A Hellman, P Cheng, L Kanapka, C Kollman, C McCarthy, S Chalasani, K K Hood, S Hanes, J Viana, M Lanning, D S Fox, G Arreaza-Rubin, T Eggerman, N Green, R Janicek, D Gabrielson, S H Belle, J Castle, J Green, L Legault, S M Willi, C Wysham

    Diterbitkan 2022-04-01
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