檢索結果 - Marjon van Slegtenhorst

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  1. 1
    Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products

    Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products 由 Marjon van Slegtenhorst

    出版 1998
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  2. 2
    Tsc1+ and tsc2+ Regulate Arginine Uptake and Metabolism in Schizosaccharomyces pombe

    Tsc1+ and tsc2+ Regulate Arginine Uptake and Metabolism in Schizosaccharomyces pombe 由 Marjon van Slegtenhorst, Erikka Lynnette Carr, Radka Stoyanova, Warren D. Kruger, Elizabeth P. Henske

    出版 2004
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  3. 3
    The Birt-Hogg-Dube and Tuberous Sclerosis Complex Homologs Have Opposing Roles in Amino Acid Homeostasis in Schizosaccharomyces pombe

    The Birt-Hogg-Dube and Tuberous Sclerosis Complex Homologs Have Opposing Roles in Amino Acid Homeostasis in Schizosaccharomyces pombe 由 Marjon van Slegtenhorst, Damir Khabibullin, Tiffiney R. Hartman, Émmanuelle Nicolas, Warren D. Kruger, Elizabeth P. Henske

    出版 2007
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  4. 4
    EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias

    EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias 由 Jesse B.G. Hayesmoore, Zahurul A. Bhuiyan, Domenico Coviello, Desirée du Sart, Matthew Edwards, Maria Iascone, Deborah Morris‐Rosendahl, Katie Sheils, Marjon van Slegtenhorst, Kate Thomson

    出版 2023
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  5. 5
    Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation

    Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation 由 Marjon van Slegtenhorst, Senno Verhoef, A.M.P. Tempelaars, Lida Bakker, Qi Wang, Marja W. Wessels, Remco Bakker, Mark Nellist, Dick Lindhout, Dicky Halley, Ans van den Ouweland

    出版 1999
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  6. 6
    Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

    Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis 由 Francesca Mattioli, Élise Schaefer, Alex Magee, Paul R. Mark, Grazia M.S. Mancini, Klaus Dieterich, Gretchen Von Allmen, Mariëlle Alders, Charles Coutton, Marjon van Slegtenhorst, Gaëlle Vieville, Marc Engelen, Jan Maarten Cobben, Jane Juusola, Aurora Pujol, Jean‐Louis Mandel, Amélie Piton

    出版 2016
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  7. 7
    Contractile Dysfunction Irrespective of the Mutant Protein in Human Hypertrophic Cardiomyopathy With Normal Systolic Function

    Contractile Dysfunction Irrespective of the Mutant Protein in Human Hypertrophic Cardiomyopathy With Normal Systolic Function 由 Sabine J. van Dijk, E. Rosalie Paalberends, Aref Najafi, Michelle Michels, Sakthivel Sadayappan, Lucie Carrier, Nicky M. Boontje, Diederik W.D. Kuster, Marjon van Slegtenhorst, Dennis Dooijes, Cristobal G. dos Remedios, Folkert J. ten Cate, Ger J.M. Stienen, Jolanda van der Velden

    出版 2011
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  8. 8
    Sex Differences at the Time of Myectomy in Hypertrophic Cardiomyopathy

    Sex Differences at the Time of Myectomy in Hypertrophic Cardiomyopathy 由 Louise L.A.M. Nijenkamp, Ilse A. E. Bollen, Hannah G. van Velzen, Jessica A. Regan, Marjon van Slegtenhorst, Hans W.M. Niessen, Arend F. L. Schinkel, Martina Krüger, Corrado Poggesi, Carolyn Y. Ho, Diederik W.D. Kuster, Michelle Michels, Jolanda van der Velden

    出版 2018
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  9. 9
    A subtype of childhood acute lymphoblastic leukaemia with poor treatment outcome: a genome-wide classification study

    A subtype of childhood acute lymphoblastic leukaemia with poor treatment outcome: a genome-wide classification study 由 Monique L. den Boer, Marjon van Slegtenhorst, Renée X. de Menezes, Meyling Cheok, Jessica GCAM Buijs-Gladdines, Susan T.C.J.M. Peters, Laura JCM Van Zutven, H. Berna Beverloo, Peter J. van der Spek, G. Escherich, Martin A. Horstmann, Gritta Janka‐Schaub, Willem A. Kamps, William E. Evans, Rob Pieters

    出版 2009
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  10. 10
    Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy

    Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy 由 Arthur van den Wijngaard, Paul G.A. Volders, J. Peter van Tintelen, Jan D.H. Jongbloed, Maarten P. van den Berg, R. H. Lekanne Deprez, Marcel M.A.M. Mannens, Natalia K. Hofmann, Marjon van Slegtenhorst, Dennis Dooijes, Michelle Michels, Yvonne Arens, R. J. E. Jongbloed, H.J.M. Smeets

    出版 2011
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  11. 11
    Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy

    Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy 由 E. Rosalie Witjas‐Paalberends, Nicoletta Piroddi, Kelly Stam, Sabine J. van Dijk, Vasco Sequeira, Claudia Ferrara, Beatrice Scellini, Mark R. Hazebroek, Folkert J. ten Cate, Marjon van Slegtenhorst, Cristobal G. dos Remedios, Hans W.M. Niessen, Chiara Tesi, Ger J.M. Stienen, Stéphane Heymans, Michelle Michels, Corrado Poggesi, Jolanda van der Velden

    出版 2013
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  12. 12
    Human mutations in integrator complex subunits link transcriptome integrity to brain development

    Human mutations in integrator complex subunits link transcriptome integrity to brain development 由 Renske Oegema, David Baillat, Rachel Schot, Leontine 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, I.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

    出版 2017
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  13. 13
    De novo <i>TRPV4</i> Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy

    De novo <i>TRPV4</i> Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy 由 Aviël Ragamin, Carolina Cavaliéri Gomes, Karen Bindels‐de Heus, Renata Lazari Sandoval, Angelia V. Bassenden, Luciano Lauria Dib, Fernando Kok, Julieta Goncalves Silva Macedo Alves, Irene M.J. Mathijssen, Evita Medici-van den Herik, Robert Eveleigh, Tenzin Gayden, Bas Pullens, Albert M. Berghuis, Marjon van Slegtenhorst, Martina Wilke, Nada Jabado, Grazia M.S. Mancini, Ricardo Santiago Gomez

    出版 2021
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  14. 14
    Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails

    Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails 由 Molly E. Kuo, Arjan F. Theil, Anneke J.A. Kievit, May Christine V. Malicdan, Wendy J. Introne, Thomas Christian, Frans W. Verheijen, Desirée E.C. Smith, Marisa I. Mendes, Lidia Hussaarts-Odijk, Eric van der Meijden, Marjon van Slegtenhorst, Martina Wilke, Wim Vermeulen, Anja Raams, Catherine Groden, Shino Shimada, Rebecca Meyer‐Schuman, Ya‐Ming Hou, William A. Gahl, Anthony Antonellis, Gajja S. Salomons, Grazia M.S. Mancini

    出版 2019
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  15. 15
    ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder

    ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder 由 Lewis Williams, Asif Javed, Amin Sabri, Denise J. Morgan, Chad Huff, John Grigg, Xiu Ting Heng, Alexis Jiaying Khng, Iris H.I.M. Hollink, Margaux A. Morrison, Leah A. Owen, Katherine Anderson, Krista Kinard, Rebecca Greenlees, Danica Novacic, Sen Hou, Wadih M. Zein, George M. Rodgers, Albert T. Vitale, Neena B. Haider, Axel M. Hillmer, Pauline C. Ng, Shankaracharya, Anson Cheng, Linda Zheng, Mark C. Gillies, Marjon van Slegtenhorst, P. Martin van Hagen, Tom Missotten, Gary L. Farley, Michael Polo, J. Jeffrey Malatack, Julie Curtin, Frank Martin, Susan Arbuckle, Stephen I. Alexander, Megan Chircop, Sonia Dávila, Kathleen B. Digre, Robyn V. Jamieson, Margaret M. DeAngelis

    出版 2019
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  16. 16
    Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

    Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy 由 Anna Lehman, Samrat Thouta, Grazia M.S. Mancini, Sakkubai Naidu, Marjon van Slegtenhorst, Kirsty McWalter, Richard Person, Jill Mwenifumbo, Ramona Salvarinova, Ilaria Guella, Marna B. McKenzie, Anita Datta, Mary Connolly, Somayeh Mojard Kalkhoran, Damon Poburko, Jan M. Friedman, Matthew J. Farrer, Michelle Demos, Sonal Desai, Tom W. Claydon, Shelin Adam, Christèle du Souich, Alison M. Elliott, Anna Lehman, Jill Mwenifumbo, Tanya N. Nelson, Clara van Karnebeek, Jan M. Friedman, Shelin Adam, Cyrus Boelman, Corneliu Bolbocean, Sarah E. Buerki, Tara Candido, Patrice Eydoux, Daniel M. Evans, William T. Gibson, Gabriella Horváth, Linda Huh, Tanya N. Nelson, Graham Sinclair, Tamsin Tarling, Eric Toyota, Katelin N. Townsend, Margot I. Van Allen, Clara van Karnebeek, Suzanne Vercauteren

    出版 2017
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  17. 17
    TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities

    TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities 由 Laura Vandervore, Rachel Schot, Chiara Milanese, Daphne J. Smits, Esmee Kasteleijn, Andrew E. Fry, Daniela T. Pilz, Stefanie Brock, Esra Börklü, Marco Post, Nadia Bahi‐Buisson, María José Sánchez-Soler, Marjon van Slegtenhorst, Boris Keren, Alexandra Afenjar, Stephanie A. Coury, Wen‐Hann Tan, Renske Oegema, Linda S. de Vries, Katherine A. Fawcett, Peter G. J. Nikkels, Aida M. Bertoli‐Avella, Amal Al Hashem, Abdulmalik A. Alwabel, K. Tlili-Graiess, Stéphanie Efthymiou, Faisal Zafar, Nuzhat Rana, Farah Bibi, Henry Houlden, Reza Maroofian, Richard Person, Amy Crunk, Juliann M. Savatt, Lisbeth Turner, Mohammad Doosti, Ehsan Ghayoor Karimiani, Nebal Waill Saadi, Javad Akhondian, Maarten H. Lequin, Hülya Kayserili, Peter J. van der Spek, Anna Jansen, Johan M. Kros, Robert M. Verdijk, Nataša Jovanov Milošević, Maarten Fornerod, Pier G. Mastroberardino, Grazia M.S. Mancini

    出版 2019
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  18. 18
    Lessons learned from 40 novel <i>PIGA</i> patients and a review of the literature

    Lessons learned from 40 novel <i>PIGA</i> patients and a review of the literature 由 Allan Bayat, Alexej Knaus, Manuela Pendziwiat, Alexandra Afenjar, Tahsin Stefan Barakat, Friedrich Bosch, Bert Callewaert, Patrick Calvas, Berten Ceulemans, Nicolas Chassaing, Christel Depienne, Milda Endzinienė, Carlos R. Ferreira, Carolina Fischinger Moura de Souza, Cécile Freihuber, Shiva Ganesan, Svetlana Gataullina, Renzo Guerrini, Anne‐Marie Guerrot, Lars Hestbjerg Hansen, Aleksandra Jezela‐Stanek, C. Karsenty, Anneke Kievit, R. Frank Kooy, Christian Korff, Johanne Kragh Hansen, Martin J. Larsen, Valérie Layet, Gaëtan Lesca, Kim L. McBride, Marije Meuwissen, Cyril Mignot, Martino Montomoli, Hannah W. Moore, Sophie Naudion, Caroline Nava, Marie‐Christine Nouguès, Elena Parrini, Matthew Pastore, Jurgen Schelhaas, Steven A. Skinner, Krzysztof Szczałuba, Ashley Thomas, Mads Thomassen, Lisbeth Tranebjærg, Marjon van Slegtenhorst, Lynne A. Wolfe, Dennis Lal, Elena Gardella, Lilian Bomme Ousager, Tobias Brünger, Ingo Helbig, Peter Krawitz, Rikke S. Møller

    出版 2020
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  19. 19
    BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

    BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms 由 Scott Barish, Tahsin Stefan Barakat, Brittany C. Michel, Nazar Mashtalir, Jennifer B. Phillips, Alfredo M. Valencia, Berrak Uğur, Jeremy Wegner, Tiana M. Scott, Brett Bostwick, David R. Murdock, Hongzheng Dai, Elena Perenthaler, Anita Nikoncuk, Marjon van Slegtenhorst, Alice S. Brooks, Boris Keren, Caroline Nava, Cyril Mignot, Jessica Douglas, Lance H. Rodan, C. Nowak, Sian Ellard, Karen Stals, Sally Ann Lynch, Marie Faoucher, Gaëtan Lesca, Patrick Edery, Kendra Engleman, Dihong Zhou, Isabelle Thiffault, John Herriges, Jennifer Gass, Raymond J. Louie, Elliot Stolerman, Camerun Washington, Francesco Vetrini, Aiko Iwata‐Otsubo, Victoria M. Pratt, Erin Conboy, Kayla Treat, Nora Shannon, Jose A. Camacho, Emma Wakeling, Bo Yuan, Chun‐An Chen, Jill A. Rosenfeld, Monte Westerfield, Michael F. Wangler, Shinya Yamamoto, Cigall Kadoch, Daryl A. Scott, Hugo J. Bellen

    出版 2020
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  20. 20
    Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

    Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis 由 Pamela Magini, Daphne J. Smits, Laura Vandervore, Rachel Schot, Marta Columbaro, Esmee Kasteleijn, Mees van der Ent, Flavia Palombo, Maarten H. Lequin, Marjolein H. G. Dremmen, Marie‐Claire Y. de Wit, Mariasavina Severino, Maria Teresa Divizia, Pasquale Striano, Natalia Ordonez‐Herrera, Amal Alhashem, Ahmed Fares, Malak Al Ghamdi, Arndt Rolfs, Peter Bauer, Jeroen Demmers, Frans W. Verheijen, Martina Wilke, Marjon van Slegtenhorst, Peter J. van der Spek, Marco Seri, Anna Jansen, Rolf W. Stottmann, Robert B. Hufnagel, Robert J. Hopkin, Deema Aljeaid, Wojciech Wiszniewski, Paweł Gawliński, Milena Laure‐Kamionowska, Fowzan S. Alkuraya, Hanah Akleh, Valentina Stanley, Damir Musaev, Joseph G. Gleeson, Maha S. Zaki, Nicola Brunetti‐Pierri, Gerarda Cappuccio, Bella Davidov, Lina Basel‐Vanagaite, Lily Bazak, Noa Ruhrman‐Shahar, Aida M. Bertoli‐Avella, Ghayda Mirzaa, William B. Dobyns, Tommaso Pippucci, Maarten Fornerod, Grazia M.S. Mancini

    出版 2019
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