Ngā hua rapu - Carine Bonnard

  • E whakaatu ana i te 1 - 15 hua o te 15
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  1. 1
    Comprehensive evaluation of common genetic variation within LRRK2 reveals evidence for association with sporadic Parkinson's disease

    Comprehensive evaluation of common genetic variation within LRRK2 reveals evidence for association with sporadic Parkinson's disease mā Lisa Skipper, Yi Li, Carine Bonnard, Pavanni Ratnagopal, Yuen Yih, Eva Chua, Wing‐Kin Sung, Louis C.S. Tan, Meng‐Cheong Wong, Eng‐King Tan, Jianjun Liu

    I whakaputaina 2005
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  2. 2
    Secretome from prolonged high‐density human Wharton's jelly stem cell culture accelerates wound healing in both in vitro and in vivo models

    Secretome from prolonged high‐density human Wharton's jelly stem cell culture accelerates wound healing in both in vitro and in vivo models mā Jiah Shin Chin, Mandy Li Ling Tan, Priscilla L.K. Lim, Bhavya Sharma, Aimin Yeo, Yi Bing Aw, Yi Zhen Ng, Carine Bonnard, David L. Becker, Pamela Mok

    I whakaputaina 2025
    Whiwhi kuputuhi katoa
    Artigo
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  3. 3
    A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling

    A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling mā Carine Bonnard, Naveenan Navaratnam, Kakaly Ghosh, Puck Wee Chan, Thong Teck Tan, Oz Pomp, Alvin Yu Jin Ng, Sumanty Tohari, Rishita Changede, David Carling, Byrappa Venkatesh, Umut Altunoğlu, Hülya Kayserili, Bruno Reversade

    I whakaputaina 2020
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  4. 4
    A Genome-Wide Association Study Identifies Novel and Functionally Related Susceptibility Loci for Kawasaki Disease

    A Genome-Wide Association Study Identifies Novel and Functionally Related Susceptibility Loci for Kawasaki Disease mā David Burgner, Sonia Dávila, Willemijn B. Breunis, Sarah Ng, Yi Li, Carine Bonnard, Ling Ling, Victoria Wright, Anbupalam Thalamuthu, Miranda Odam, Chisato Shimizu, Jane C. Burns, Michael Levin, Taco W. Kuijpers, Martin L. Hibberd

    I whakaputaina 2009
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  5. 5
    Diphtheria toxin activates ribotoxic stress and NLRP1 inflammasome-driven pyroptosis

    Diphtheria toxin activates ribotoxic stress and NLRP1 inflammasome-driven pyroptosis mā Kim S. Robinson, Gee Ann Toh, Muhammad Jasrie Firdaus, Khek‐Chian Tham, Pritisha Rozario, Chrissie Lim, Ying Xiu Toh, Zhi Heng Lau, Sophie C. Binder, Jacob Mayer, Carine Bonnard, Florian I. Schmidt, John Common, Franklin L. Zhong

    I whakaputaina 2023
    Whiwhi kuputuhi katoa
    Artigo
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  6. 6
    Genetic Association and Expression Studies Indicate a Role of Toll-Like Receptor 8 in Pulmonary Tuberculosis

    Genetic Association and Expression Studies Indicate a Role of Toll-Like Receptor 8 in Pulmonary Tuberculosis mā Sonia Dávila, Martin L. Hibberd, Ranjeeta Hari Dass, Hazel E. E. Wong, Edhyana Sahiratmadja, Carine Bonnard, Bachti Alisjahbana, Jeffrey S. Szeszko, Yanina Balabanova, Francis Drobniewski, Reinout van Crevel, Esther van de Vosse, Sergey Nejentsev, Tom H. M. Ottenhoff, Mark Seielstad

    I whakaputaina 2008
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  7. 7
    A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability

    A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability mā Poh Hui Chia, Franklin L. Zhong, Shinsuke Niwa, Carine Bonnard, Kagistia Hana Utami, Ruizhu Zeng, Hane Lee, Ascia Eskin, Stanley F. Nelson, William Xie, Samah Al‐Tawalbeh, Mohammad El-Khateeb, Mohammad Shboul, Mahmoud A. Pouladi, Mohammed Al‐Raqad, Bruno Reversade

    I whakaputaina 2018
    Whiwhi kuputuhi katoa
    Artigo
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  8. 8
    A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

    A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome mā Machteld M. Oud, Carine Bonnard, Dorus A. Mans, Umut Altunoğlu, Sumanty Tohari, Alvin Yu Jin Ng, Ascia Eskin, Hane Lee, C. Anthony Rupar, Nathalie P. de Wagenaar, Ka Man Wu, Piya Lahiry, Gregory J. Pazour, Stanley F. Nelson, Robert A. Hegele, Ronald Roepman, Hülya Kayserili, Byrappa Venkatesh, Victoria Mok Siu, Bruno Reversade, Heleen H. Arts

    I whakaputaina 2016
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  9. 9
    Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number

    Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number mā Wen Fan Hu, Oz Pomp, Tawfeg Ben‐Omran, Andrew Kodani, Katrin Henke, Ganeshwaran H. Mochida, Timothy W. Yu, Mollie B. Woodworth, Carine Bonnard, Grace Selva Raj, Thong Teck Tan, Hanan Hamamy, Amira Masri, Mohammad Shboul, Muna Al Saffar, Jennifer N. Partlow, Mohammed S. Al‐Dosari, Anas M. Alazami, Mohammed Al‐Owain, Fowzan S. Alkuraya, Jeremy F. Reiter, Matthew P. Harris, Bruno Reversade, Christopher A. Walsh

    I whakaputaina 2014
    Whiwhi kuputuhi katoa
    Artigo
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  10. 10
    ZAKα-driven ribotoxic stress response activates the human NLRP1 inflammasome

    ZAKα-driven ribotoxic stress response activates the human NLRP1 inflammasome mā Kim S. Robinson, Gee Ann Toh, Pritisha Rozario, Rae Chua, Stefan Bauernfried, Zijin Sun, Muhammad Jasrie Firdaus, Shima Bayat, Rhea Nadkarni, Zhi Sheng Poh, Khek‐Chian Tham, Cassandra R. Harapas, Chrissie Lim, Werncui Chu, Celest W. S. Tay, Kiat Yi Tan, Tianyun Zhao, Carine Bonnard, Radoslaw M. Sobota, John E. Connolly, John Common, Seth L. Masters, Kaiwen Chen, Lena Ho, Bin Wu, Veit Hornung, Franklin L. Zhong

    I whakaputaina 2022
    Whiwhi kuputuhi katoa
    Artigo
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  11. 11
    <i>TRAF1–C5</i>as a Risk Locus for Rheumatoid Arthritis — A Genomewide Study

    <i>TRAF1–C5</i>as a Risk Locus for Rheumatoid Arthritis — A Genomewide Study mā Robert M. Plenge, Mark Seielstad, Leonid Padyukov, Annette T. Lee, Elaine F. Remmers, Bo Ding, Anthony Liew, Houman Khalili, Alamelu Chandrasekaran, Leela Davies, Wentian Li, Adrian Tan, Carine Bonnard, Rick Twee‐Hee Ong, Anbupalam Thalamuthu, Sven Pettersson, Chunyu Liu, Chao Tian, Wei V. Chen, John P. Carulli, Evan Beckman, David Altshuler, Lars Alfredsson, Lindsey A. Criswell, Christopher I. Amos, Michael F. Seldin, Daniel L. Kastner, Lars Klareskog, Peter K. Gregersen

    I whakaputaina 2007
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  12. 12
    Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation

    Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation mā Franklin L. Zhong, Ons Mamaï, Lorenzo Sborgi, L. Boussofara, Richard A. Hopkins, Kim S. Robinson, Ildikó Szeverényi, Takuya Takeichi, Reshmaa Balaji, Aristotle Lau, Hazel Tye, Keya Roy, Carine Bonnard, Patricia J. Ahl, Leigh Ann Jones, Paul J. Baker, Lukáš Lacina, Atsushi Otsuka, Pierre Fournié, François Malecaze, E. Birgitte Lane, Masashi Akiyama, Kenji Kabashima, John E. Connolly, Seth L. Masters, Vincent Soler, Salma Samir Omar, John A. McGrath, Roxana Nedelcu, Moez Gribaa, M. Denguezli, Ali Saâd, Sebastian Hiller, Bruno Reversade

    I whakaputaina 2016
    Whiwhi kuputuhi katoa
    Artigo
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  13. 13
    KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

    KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis mā Lucie Gueneau, Richard J. Fish, Hanan E. Shamseldin, Norine Voisin, Frédéric Tran Mau‐Them, Eglė Preikšaitienė, Glen R. Monroe, Angeline Lai, Audrey Putoux, Fabienne Allias, Qamariya Ambusaidi, Laima Ambrozaitytė, Loreta Cimbalistienė, Julien Delafontaine, Nicolas Guex, Mais Hashem, Wesam Kurdi, Saumya Shekhar Jamuar, Lim Jiin Ying, Carine Bonnard, Tommaso Pippucci, Sylvain Pradervand, Bernd Roechert, Peter M. van Hasselt, Michael R. Wiederkehr, Caroline F. Wright, Ioannis Xénarios, Gijs van Haaften, Charles Shaw‐Smith, Erica Schindewolf, Marguerite Neerman‐Arbez, Damien Sanlaville, Gaëtan Lesca, Laurent Guibaud, Bruno Reversade, Jamel Chelly, Vaidutis Kučinskas, Fowzan S. Alkuraya, Alexandre Reymond

    I whakaputaina 2017
    Whiwhi kuputuhi katoa
    Artigo
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  14. 14
    De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

    De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development mā Christopher T. Gordon, Shifeng Xue, Gökhan Yigit, Hicham Filali, Kelan Chen, Nadine Rosin, Koh-ichiro Yoshiura, Myriam Oufadem, Tamara Beck, Ruth McGowan, Alex Magee, Janine Altmüller, Camille Dion, Hölger Thiele, Alexandra D. Gurzau, Peter Nürnberg, Dieter Meschede, W. Mühlbauer, Nobuhiko Okamoto, Vinod Varghese, Rachel Irving, Sabine Sigaudy, Denise Williams, S. Faisal Ahmed, Carine Bonnard, Mung Kei Kong, Ilham Ratbi, Nawfal Fejjal, Meriem Fikri, Siham Chafai Elalaoui, Hallvard Reigstad, Christine Bôle‐Feysot, Patrick Nitschké, Nicola Ragge, Nicolas Lévy, Gökhan Tunçbįlek, Audrey S.M. Teo, Michael L. Cunningham, Abdelaziz Sefiani, Hülya Kayserili, James M. Murphy, Chalermpong Chatdokmaiprai, Axel M. Hillmer, Duangrurdee Wattanasirichaigoon, Stanislas Lyonnet, Frédérique Magdinier, Asif Javed, Marnie E. Blewitt, Jeanne Amiel, Bernd Wollnik, Bruno Reversade

    I whakaputaina 2017
    Whiwhi kuputuhi katoa
    Artigo
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  15. 15
    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 mā Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker‐Ravi, Hankun Li, Sarah B. Pierce, Élise Lebigot, Thong-Teck Tan, Michelle Eio, Gunaseelan Narayanan, Kagistia Hana Utami, Monica Yau, Nader Handal, Werner Deigendesch, Reinhard Keimer, Hiyam Marzouqa, Meral Gunay‐Aygun, Michael Muriello, Hélène Verhelst, Sarah Weckhuysen, Sonal Mahida, Sakkubai Naidu, Terrence 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 Willing, Lance H. Rodan, Tahsin Stefan Barakat, Marjon van Slegtenhorst, Ralitza H. Gavrilova, Diego Martinelli, Tal Gilboa, Abdullah Tamim, Mais Hashem, Moeenaldeen AlSayed, Maha Abdulrahim, Mohammed Al‐Owain, Ali Awaji, Adel Mahmoud, Eissa Faqeih, Ali Al Asmari, Sulwan Algain, Lamyaa Jad, Hesham Aldhalaan, Ingo Helbig, David A. Koolen, Angelika Rieß, Ingeborg Kraegeloh‐Mann, Peter Bauer, Süleyman Gülsüner, Hannah Stamberger, Alvin Yu Jin Ng, Sha Tang, Sumanty Tohari, Boris Keren, Laura 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 Stewart, Adam Claridge‐Chang, Dirk J. Lefeber, Fowzan S. Alkuraya, Ajay S. Mathuru, Byrappa Venkatesh, Joseph Barycki, Melanie A. Simpson, Saumya Shekhar Jamuar, Lüdger Schöls, Bruno Reversade

    I whakaputaina 2020
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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