Výsledky vyhledávání - Peer Arts

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  1. 1
    GATA2 deficiency syndrome: A decade of discovery

    GATA2 deficiency syndrome: A decade of discovery Autor Claire C. Homan, Parvathy Venugopal, Peer Arts, Nur Hezrin Shahrin, Simone Feurstein, Lesley Rawlings, David Lawrence, James Andrews, Sarah L. King‐Smith, Natasha L. Harvey, Anna Brown, Hamish S. Scott, Christopher N Hahn

    Vydáno 2021
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  2. 2
    Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

    Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome Autor Christian Gilissen, Heleen H. Arts, Alexander Hoischen, Liesbeth Spruijt, Dorus A. Mans, Peer Arts, Bart van Lier, Marloes Steehouwer, Jeroen van Reeuwijk, Sarina G. Kant, Ronald Roepman, Nine V.A.M. Knoers, Joris A. Veltman, Han G. Brunner

    Vydáno 2010
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  3. 3
    Human TLR10 is an anti-inflammatory pattern-recognition receptor

    Human TLR10 is an anti-inflammatory pattern-recognition receptor Autor Marije Oosting, Shih‐Chin Cheng, Judith M. Bolscher, Rachel Vestering-Stenger, Theo S. Plantinga, Ineke Verschueren, Peer Arts, Anja Garritsen, Hans van Eenennaam, Patrick Sturm, Bart Jan Kullberg, Alexander Hoischen, Gosse J. Adema, J.W.M. van der Meer, Mihai G. Netea, Leo A. B. Joosten

    Vydáno 2014
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  4. 4
    <i>STAT1</i>Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis

    <i>STAT1</i>Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis Autor Frank L. van de Veerdonk, Theo S. Plantinga, Alexander Hoischen, Sanne P. Smeekens, Leo A. B. Joosten, Christian Gilissen, Peer Arts, Diana C. Rosentul, Andrew Carmichael, Chantal A.A. Smits-van der Graaf, Bart Jan Kullberg, J.W.M. van der Meer, Desa Lilić, Joris A. Veltman, Mihai G. Netea

    Vydáno 2011
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  5. 5
    Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy

    Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy Autor Konstantinos Nikopoulos, Christian Gilissen, Alexander Hoischen, C. E. van Nouhuys, F. Nienke Boonstra, Ellen A.W. Blokland, Peer Arts, Nienke Wieskamp, Tim M. Strom, Carmen Ayuso, M. A. D. Tilanus, Sanne Bouwhuis, Arijit Mukhopadhyay, Hans Scheffer, Lies H. Hoefsloot, Joris A. Veltman, Frans P.M. Cremers, Rob W.J. Collin

    Vydáno 2010
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  6. 6
    Functional genomics identifies type I interferon pathway as central for host defense against Candida albicans

    Functional genomics identifies type I interferon pathway as central for host defense against Candida albicans Autor Sanne P. Smeekens, Aylwin Ng, Vinod Kumar, Melissa D. Johnson, Theo S. Plantinga, Cleo C. van Diemen, Peer Arts, Eugène T.P. Verwiel, Mark S. Gresnigt, Karin Fransén, Suzanne van Sommeren, Marije Oosting, Shih‐Chin Cheng, Leo A. B. Joosten, Alexander Hoischen, Bart Jan Kullberg, William K. Scott, John R. Perfect, J.W.M. van der Meer, Cisca Wijmenga, Mihai G. Netea, Ramnik J. Xavier

    Vydáno 2013
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  7. 7
    Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia

    Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia Autor Sascha Vermeer, Alexander Hoischen, Rowdy Meijer, Christian Gilissen, Kornelia Neveling, Nienke Wieskamp, Arjan de Brouwer, Michel Kœnig, Mathieu Anheim, Mirna Assoum, Nathalie Drouot, S. Todorović, Vedrana Milić-Rašić, Hanns Lochmüller, Giovanni Stévanin, Cyril Goizet, Albert David, Alexandra Dürr, Alexis Brice, Berry Kremer, Bart P.C. van de Warrenburg, Mascha M.V.A.P. Schijvenaars, Angelien Heister, Michael Kwint, Peer Arts, Jenny van der Wijst, Joris A. Veltman, Erik‐Jan Kamsteeg, Hans Scheffer, Nine V.A.M. Knoers

    Vydáno 2010
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  8. 8
    A systems genomics approach identifies <i>SIGLEC15</i> as a susceptibility factor in recurrent vulvovaginal candidiasis

    A systems genomics approach identifies <i>SIGLEC15</i> as a susceptibility factor in recurrent vulvovaginal candidiasis Autor Martin Jaeger, Michele Pinelli, Monica Borghi, C. Constantini, Mirco Dindo, Liesbeth van Emst, Matteo Puccetti, Marilena Pariano, Isis Ricaño-Ponce, Christian Büll, Mark S. Gresnigt, X. Wang, Javier Gutierrez‐Achury, C. W. Jacobs, not provided Liqin Xu, Marije Oosting, Peer Arts, Leo A. B. Joosten, Frank L. van de Veerdonk, Joris A. Veltman, Jaap ten Oever, Bart Jan Kullberg, Mingfang Feng, Gosse J. Adema, Cisca Wijmenga, Vinod Kumar, Jack D. Sobel, Christian Gilissen, Luigina Romani, Mihai G. Netea

    Vydáno 2019
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  9. 9
    Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders

    Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders Autor Dominyka Batkovskyte, F. Ellis McKenzie, Fulya Taylan, Pelin Özlem Şimşek‐Kiper, Sarah M. Nikkel, Hirofumi Ohashi, Roger E. Stevenson, Thuong Ha, Denise P. Cavalcanti, Hiroyuki Miyahara, Steven A. Skinner, Miguel Ángel Aguirre, Zühal Akçören, Gülen Eda Ütine, Tillie Chiu, Kenji Shimizu, Anna Hammarsjö, Koray Boduroğlu, Hannah W. Moore, Raymond J. Louie, Peer Arts, Allie Merrihew, Milena Babic, Matilda R. Jackson, Nikos Papadogiannakis, Anna Lindstrand, Ann Nordgren, Christopher Barnett, Hamish S. Scott, Andrei S. Chagin, Gen Nishimura, Giedre Grigelioniené

    Vydáno 2020
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  10. 10
    The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy

    The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy Autor Claire C. Homan, Sarah L. King‐Smith, David Lawrence, Peer Arts, Jinghua Feng, James Andrews, M. Armstrong, Thuong Ha, Julia Dobbins, Michael W. Drazer, Kai Yu, Csaba Bödör, Alan Cantor, Mario Cazzola, Erin Degelman, Courtney D. DiNardo, Nicolas Duployez, Rémi Favier, Stefan Fröhling, Jude Fitzgibbon, Jeffery M. Klco, Alwin Krämer, Mineo Kurokawa, Joanne Lee, Luca Malcovati, Neil V. Morgan, Georges Natsoulis, Carolyn Owen, Keyur P. Patel, Claude Preudhomme, Hana Raslová, Hugh Young Rienhoff, Tim Ripperger, Rachael Schulte, Kiran Tawana, Elvira Deolinda Rodrigues Pereira Velloso, Benedict Yan, Paul Liu, Lucy A. Godley, Andreas Schreiber, Christopher N Hahn, Hamish S. Scott, Anna Brown

    Vydáno 2021
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  11. 11
    Integrated multi-omics for rapid rare disease diagnosis on a national scale

    Integrated multi-omics for rapid rare disease diagnosis on a national scale Autor Sebastian Lunke, Sophie E. Bouffler, Chirag Patel, Sarah A. Sandaradura, Meredith Wilson, Jason Pinner, Matthew F. Hunter, Christopher Barnett, Mathew Wallis, Benjamin Kamien, Tiong Yang Tan, Mary‐Louise Freckmann, Belinda Chong, Dean Phelan, David Francis, Karin S. Kassahn, Thuong Ha, Song Gao, Peer Arts, Matilda R. Jackson, Hamish S. Scott, Stefanie Eggers, Simone M. Rowley, Kirsten Boggs, Ana Rakonjac, Gemma R. Brett, M. De Silva, Amanda Springer, Michelle C. Ward, Kirsty Stallard, Cas Simons, Thomas Conway, Andreas Halman, Nicole J. Van Bergen, Tim Sikora, Liana N. Semcesen, David A. Stroud, Alison G. Compton, David R. Thorburn, Katrina M. Bell, Simon Sadedin, Kathryn N. North, John Christodoulou, Zornitza Stark

    Vydáno 2023
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  12. 12
    RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML

    RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML Autor Anna Brown, Peer Arts, Catherine Carmichael, Milena Babic, Julia Dobbins, Chan‐Eng Chong, Andreas Schreiber, Jinghua Feng, Kerry Phillips, Paul Wang, Thuong Ha, Claire C. Homan, Sarah L. King‐Smith, Lesley Rawlings, Cassandra Vakulin, Andrew Dubowsky, Jessica Burdett, Sarah Moore, Grace McKavanagh, Denae Henry, Amanda Wells, Belinda Mercorella, Mario Nicola, Jeffrey C. Suttle, Ella Wilkins, Xiaochun Li, Joëlle Michaud, Peter J Brautigan, Ping Cannon, Meryl Altree, Louise Jaensch, Miriam Fine, Carolyn M Butcher, Richard J. D’Andrea, Ian D. Lewis, Devendra Hiwase, Elli Papaemmanuil, Marshall S. Horwitz, Georges Natsoulis, Hugh Young Rienhoff, Nigel Patton, Sally Mapp, Rachel Susman, Susan Morgan, Julian Cooney, Mark S. Currie, Uday Popat, Tilmann Bochtler, Shai Izraeli, Kenneth F. Bradstock, Lucy A. Godley, Alwin Krämer, Stefan Fröhling, Andrew H. Wei, Cecily Forsyth, Helen Mar Fan, Nicola Poplawski, Christopher N Hahn, Hamish S. Scott

    Vydáno 2020
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  13. 13
    Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

    Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies Autor Peer Arts, Annet Simons, Mofareh AlZahrani, Elanur Yılmaz, Eman AlIdrissi, Koen van Aerde, Njood Alenezi, Hamza AlGhamdi, Hadeel AlJubab, Abdulrahman Al‐Hussaini, Fahad AlManjomi, Alaa Alsaad, Badr Alsaleem, Abdulrahman Andijani, Ali Asery, Walid Ballourah, Chantal P. Bleeker‐Rovers, Marcel van Deuren, Michiel van der Flier, Erica H. Gerkes, Christian Gilissen, Murad Habazi, Jayne Y. Hehir‐Kwa, Stefanie Henriet, Esther Hoppenreijs, Sarah Hortillosa, Chantal Kerkhofs, Riikka Keski‐Filppula, Stefan H. Lelieveld, Khurram Lone, Marius MacKenzie, Arjen R. Mensenkamp, Jukka S. Moilanen, Marcel Nelen, Jaap ten Oever, Judith Potjewijd, Pieter van Paassen, Janneke Schuurs-Hoeijmakers, Anna Simon, Tomasz Stokowy, Maartje van de Vorst, Maaike Vreeburg, Anja Wagner, Gijs T. J. van Well, Dimitra Zafeiropoulou, Evelien Zonneveld‐Huijssoon, Joris A. Veltman, Wendy A.G. van Zelst–Stams, Eissa Faqeih, Frank L. van de Veerdonk, Mihai G. Netea, Alexander Hoischen

    Vydáno 2019
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  14. 14
    Somatic Mutational Landscape of Hereditary Hematopoietic Malignancies Associated with Germline Variants in <i>RUNX1</i>, <i>GATA2</i> and <i>DDX41</i>

    Somatic Mutational Landscape of Hereditary Hematopoietic Malignancies Associated with Germline Variants in <i>RUNX1</i>, <i>GATA2</i> and <i>DDX41</i> Autor Anna Brown, Claire C. Homan, Michael W. Drazer, Kai Yu, David Lawrence, Jinghua Feng, Luis Arriola‐Martinez, Matthew Pozsgai, Kelsey E. McNeely, Thuong Ha, Parvathy Venugopal, Peer Arts, Sarah L. King‐Smith, Jesse Cheah, M. Armstrong, Csaba Bödör, Paul Wang, Alan Cantor, Mario Cazzola, Erin Degelman, Courtney D. DiNardo, Nicolas Duployez, Rémi Favier, Stefan Fröhling, Ana Rio‐Machín, Jeffery M. Klco, Alwin Krämer, Mineo Kurokawa, Joanne Lee, Luca Malcovati, Neil V. Morgan, Georges Natsoulis, Carolyn Owen, Keyur P. Patel, Claude Preudhomme, Hana Raslová, Hugh Young Rienhoff, Tim Ripperger, Rachael Schulte, Kiran Tawana, Elvira Deolinda Rodrigues Pereira Velloso, Benedict Yan, Raman Sood, Amy P. Hsu, Steven M. Holland, Kerry Phillips, Nicola Poplawski, Milena Babic, Erika M Kwon Kim, Andrew H. Wei, Cecily Forsyth, Helen Mar Fan, Ian D. Lewis, Julian Cooney, Rachel Susman, Lucy C. Fox, Piers Blombery, Deepak Singhal, Devendra Hiwase, Andreas Schreiber, Christopher N Hahn, Hamish S. Scott, Paul Liu, Lucy A. Godley

    Vydáno 2022
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  15. 15
    Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in <i>RUNX1</i>, <i>GATA2</i>, and <i>DDX41</i>

    Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in <i>RUNX1</i>, <i>GATA2</i>, and <i>DDX41</i> Autor Claire C. Homan, Michael W. Drazer, Kai Yu, David Lawrence, Jinghua Feng, Luis Arriola‐Martinez, Matthew Pozsgai, Kelsey E. McNeely, Thuong Ha, Parvathy Venugopal, Peer Arts, Sarah L. King‐Smith, Jesse Cheah, M. Armstrong, Paul Wang, Csaba Bödör, Alan Cantor, Mario Cazzola, Erin Degelman, Courtney D. DiNardo, Nicolas Duployez, Rémi Favier, Stefan Fröhling, Ana Rio‐Machín, Jeffery M. Klco, Alwin Krämer, Mineo Kurokawa, Joanne Lee, Luca Malcovati, Neil V. Morgan, Georges Natsoulis, Carolyn Owen, Keyur P. Patel, Claude Preudhomme, Hana Raslová, Hugh Young Rienhoff, Tim Ripperger, Rachael Schulte, Kiran Tawana, Elvira Deolinda Rodrigues Pereira Velloso, Benedict Yan, Erika Kim, Raman Sood, Amy P. Hsu, Steven M. Holland, Kerry Phillips, Nicola Poplawski, Milena Babic, Andrew H. Wei, Cecily Forsyth, Helen Mar Fan, Ian D. Lewis, Julian Cooney, Rachel Susman, Lucy C. Fox, Piers Blombery, Deepak Singhal, Devendra Hiwase, Belinda Phipson, Andreas Schreiber, Christopher N Hahn, Hamish S. Scott, Paul Liu, Lucy A. Godley, Anna Brown

    Vydáno 2023
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  16. 16
    Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

    Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death Autor Alicia B. Byrne, Peer Arts, Thuong Ha, Karin S. Kassahn, Lynn Pais, Anne O’Donnell‐Luria, François Aguet, Harindra Arachchi, Christina Austin‐Tse, Lawrence Babb, Samantha Baxter, Harrison Brand, Jaime Chang, Katherine R. Chao, Ryan L. Collins, Beryl B. Cummings, Kayla Delano, Stephanie DiTroia, Eleina England, Emily Evangelista, Selin Everett, Laurent C. Francioli, Jack B. Fu, Vijay Ganesh, Kiran Garimella, Laura D. Gauthier, Julia K. Goodrich, Sanna Gudmundsson, Stacey J. Hall, Yongqing Huang, Steve Jahl, Kristen M. Laricchia, Kathryn E. Larkin, Monkol Lek, Gabrielle Lemire, Rachel B. Lipson, Alysia Kern Lovgren, Daniel G. MacArthur, Brian Mangilog, Stacy Mano, Jamie L. Marshall, Thomas E. Mullen, Kevin Nguyen, Emily O’Heir, Melanie O’Leary, Ikeoluwa Osei‐Owusu, Jorge Perez de Acha Chavez, Emma Pierce‐Hoffman, Heidi L. Rehm, Jillian Serrano, Moriel Singer‐Berk, Hana Snow, Matthew Solomonson, Rachel G. Son, Abigail Sveden, Michael E. Talkowski, Grace Tiao, Miriam S. Udler, Zaheer M. Valivullah, Elise Valkanas, Grace E. VanNoy, Qingbo Wang, Nicholas A. Watts, Ben Weisburd, Clara E. Williamson, Michael W. Wilson, Lauren Witzgall, Monica H. Wojcik, Isaac Wong, Jordan C. Wood, Shifa Zhang, Milena Babic, Mahalia S. B. Frank, Jinghua Feng, Paul Wang, David Lawrence, Leila Eshraghi, Luis Arriola, John Toubia, Van Hung Nguyen, Disna Abeysuriya, Lesley C. Adès, David J. Amor, Susan Arbuckle, Madhura Bakshi, Bligh Berry, Tiffany Boughtwood, Adam Bournazos, Alessandra Bray, Fiona Chan, Yuen Chan, Clara W. T. Chung, Jonathan R. Clark, Jackie Collett, Alison Colley, Felicity Collins, Sandra T. Cooper, Mark Corbett, Jane E. Dahlstrom, Peter A. Dargaville

    Vydáno 2023
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