نتائج البحث - Andrew C. Edmondson

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  1. 1
    Overgrowth Syndromes

    Overgrowth Syndromes حسب Andrew C. Edmondson, Jennifer M. Kalish

    منشور في 2015
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  2. 2
    A Gaussian copula approach for the analysis of secondary phenotypes in case-control genetic association studies

    A Gaussian copula approach for the analysis of secondary phenotypes in case-control genetic association studies حسب Jing He, Hui Li, Andrew C. Edmondson, Daniel J. Rader, Mingyang Li

    منشور في 2011
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    Artigo
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  3. 3
    Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection–Electrospray Ionization–Quadrupole Time-of-Flight Mass Spectrometry

    Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection–Electrospray Ioniz... حسب Jie Chen, Xueli Li, Andrew C. Edmondson, Gail Ditewig Meyers, Kosuke Izumi, Amanda M. Ackermann, Éva Morava, Can Fıçıcıoğlu, Michael J. Bennett, Miao He

    منشور في 2019
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  4. 4
    Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up

    Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follo... حسب Rodrigo Tzovenos Starosta, Suzanne Boyer, Shawn Tahata, Kimiyo Raymond, Hee Eun Lee, Lynne A. Wolfe, Christina Lam, Andrew C. Edmondson, Ida Vanessa Döederlein Schwartz, Éva Morava

    منشور في 2021
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  5. 5
    Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG

    Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG حسب Peter Witters, Shawn Tahata, Rita Barone, Katrin Õunap, Ramona Salvarinova, Sabine Grønborg, George Hoganson, Fernando Scaglia, Andrea M. Lewis, Mari Mori, Jolanta Sykut‐Cegielska, Andrew C. Edmondson, Miao He, Éva Morava

    منشور في 2020
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    Artigo
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  6. 6
    Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG

    Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG حسب Anna N. Ligezka, Rohit Budhraja, Yurika Nishiyama, Fabienne C. Fiesel, Graeme Preston, Andrew C. Edmondson, Wasantha Ranatunga, Johan L.K. Van Hove, Jens O. Watzlawik, Wolfdieter Springer, Akhilesh Pandey, Éva Morava, Tamás Kozicz

    منشور في 2023
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    Artigo
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  7. 7
    Gain-of-function mutations in<i>SMAD4</i>cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome

    Gain-of-function mutations in<i>SMAD4</i>cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome حسب Angela E. Lin, Caroline Michot, Valérie Cormier‐Daire, Thomas J. L’Ecuyer, G. Paul Matherne, Peter J. Barnes, Jennifer Humberson, Andrew C. Edmondson, Elaine H. Zackai, Matthew J. O’Connor, Julie Kaplan, Makram R. Ebeid, Joel B. Krier, Elizabeth L. Krieg, Brian Ghoshhajra, Mark E. Lindsay

    منشور في 2016
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  8. 8
    Tracer metabolomics reveals the role of aldose reductase in glycosylation

    Tracer metabolomics reveals the role of aldose reductase in glycosylation حسب Silvia Radenkovic, Anna N. Ligezka, Sneha S. Mokashi, Karen Driesen, Lynn Dukes‐Rimsky, Graeme Preston, Luckio F. Owuocha, Leila Sabbagh, Jehan Mousa, Christina Lam, Andrew C. Edmondson, Austin Larson, Matthew Schultz, Pieter Vermeersch, David Cassiman, Peter Witters, Lesa J. Beamer, Tamás Kozicz, Heather Flanagan‐Steet, Bart Ghesquière, Éva Morava

    منشور في 2023
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  9. 9
    Novel mouse model reveals neurodevelopmental origin of PMM2-CDG brain pathology

    Novel mouse model reveals neurodevelopmental origin of PMM2-CDG brain pathology حسب Andrew C. Edmondson, Rohit Budhraja, Zijie Xia, Ashley Melendez-Perez, Chao Cai, Silvia Radenkovic, Ashley M. Collins, Emily J. Shiplett, Sophie F. Hill, Ala Somarowthu, Jacques Van Dam, Ling-Lin Pai, Mariarita Santi, Seonhee Kim, Miao He, Ethan M. Goldberg, Tamás Kozicz, Éva Morava, Akhilesh Pandey, Zhaolan Zhou

    منشور في 2025
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    Pré-impressão
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  10. 10
    Hepatic sortilin regulates both apolipoprotein B secretion and LDL catabolism

    Hepatic sortilin regulates both apolipoprotein B secretion and LDL catabolism حسب Alanna Strong, Qiurong Ding, Andrew C. Edmondson, John S. Millar, Katherine V. Sachs, Xiaoyu Li, Arthi Kumaravel, Margaret Ye Wang, Ding Ai, Liang Guo, Eric T. Alexander, David Nguyen, Sissel Lund‐Katz, Michael C. Phillips, Carlos R. Morales, Alan R. Tall, Sekar Kathiresan, Edward A. Fisher, Yan V. Sun, Daniel J. Rader

    منشور في 2012
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    Artigo
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  11. 11
    Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin

    Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin حسب Kosuke Izumi, Ryuichiro Nakato, Zhe Zhang, Andrew C. Edmondson, Sarah E. Noon, Matthew C. Dulik, Ramakrishnan Rajagopalan, Charles P. Venditti, Karen W. Gripp, Joy Samanich, Elaine H. Zackai, Matthew A. Deardorff, Dinah Clark, Julian L. Allen, Dale Dorsett, Ziva Misulovin, Makiko Komata, Masashige Bando, Maninder Kaur, Yuki Katou, Katsuhiko Shirahige, Ian D. Krantz

    منشور في 2015
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  12. 12
    Dense Genotyping of Candidate Gene Loci Identifies Variants Associated With High-Density Lipoprotein Cholesterol

    Dense Genotyping of Candidate Gene Loci Identifies Variants Associated With High-Density Lipoprotein Cholesterol حسب Andrew C. Edmondson, Peter S. Braund, Ioannis M. Stylianou, Amit Khera, Christopher P. Nelson, Megan L. Wolfe, Stephanie DerOhannessian, Brendan J. Keating, Liming Qu, Jing He, Martin D. Tobin, Maciej Tomaszewski, Jens Baumert, Norman Klopp, Angela Döring, Barbara Thorand, Mingyao Li, Muredach P. Reilly, Wolfgang Köenig, Nilesh J. Samani, Daniel J. Rader

    منشور في 2011
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  13. 13
    Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans

    Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans حسب Andrew C. Edmondson, Robert Brown, Sekar Kathiresan, L. Adrienne Cupples, Serkalem Demissie, Alisa K. Manning, Majken K. Jensen, Eric B. Rimm, Jian Wang, Amrith Rodrigues, Vaneeta Bamba, Sumeet A. Khetarpal, Megan L. Wolfe, Stephanie DerOhannessian, Mingyao Li, Muredach P. Reilly, Jens Aberle, D. Gareth Evans, Robert A. Hegele, Daniel J. Rader

    منشور في 2009
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  14. 14
    The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG

    The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG حسب Silvia Radenkovic, Matthew Bird, Tim L. Emmerzaal, Sunnie Wong, Catarina Felgueira, Kyle M. Stiers, Leila Sabbagh, Nastassja Himmelreich, Gernot Poschet, Petra Windmolders, Jan Verheijen, Peter Witters, Ruqaiah Altassan, Tomáš Honzík, Tuba Eminoğlu, Phillip M. James, Andrew C. Edmondson, Jozef Hertecant, Tamás Kozicz, Christian Thiel, Pieter Vermeersch, David Cassiman, Lesa J. Beamer, Éva Morava, Bart Ghesquière

    منشور في 2019
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  15. 15
    Sorbitol Is a Severity Biomarker for <scp>PMM2‐CDG</scp> with Therapeutic Implications

    Sorbitol Is a Severity Biomarker for <scp>PMM2‐CDG</scp> with Therapeutic Implications حسب Anna N. Ligezka, Silvia Radenkovic, Mayank Saraswat, Kishore Garapati, Wasantha Ranatunga, Wirginia Krzyściak, Hitoshi Yanaihara, Graeme Preston, William Brucker, Renee M. McGovern, Joel M. Reid, David Cassiman, Karthik Muthusamy, Christin Johnsen, Saadet Mercimek‐Andrews, Austin Larson, Christina Lam, Andrew C. Edmondson, Bart Ghesquière, Peter Witters, Kimiyo Raymond, Devin Oglesbee, Akhilesh Pandey, Ethan Perlstein, Tamás Kozicz, Éva Morava

    منشور في 2021
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  16. 16
    Fractionated plasma N‐glycan profiling of novel cohort of <scp>ATP6AP1‐CDG</scp> subjects identifies phenotypic association

    Fractionated plasma N‐glycan profiling of novel cohort of <scp>ATP6AP1‐CDG</scp> subjects identifies phenotypic association حسب Hana Alharbi, Earnest James Paul Daniel, Jenny Thies, Irene J. Chang, Dana Goldner, Bobby G. Ng, Peter Witters, Amal Aqul, Frances Velez‐Bartolomei, Gregory M. Enns, Evelyn Hsu, Elizabeth Kichula, Esther Lee, Charles Marques Lourenço, Sheri A. Poskanzer, Sara K. Rasmussen, Katelyn M. Saarela, YunZu Michele Wang, Kimiyo Raymond, Matthew Schultz, Hudson H. Freeze, Christina Lam, Andrew C. Edmondson, Miao He

    منشور في 2023
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  17. 17
    Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

    Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals حسب Kai Lee Yap, Amy E. Knight Johnson, David S. Fischer, Priscilla Kandikatla, Jacea Deml, Viswateja Nelakuditi, Sara Halbach, George Jeha, Lindsay C. Burrage, Olaf A. Bodamer, Valeria C. Benavides, Andrea M. Lewis, Sian Ellard, Pratik Shah, Declan Cody, Alejandro Díaz, Aishwarya Devarajan, Lisa Truong, Siri Atma W. Greeley, Diva D. De Leó-Crutchlow, Andrew C. Edmondson, Soma Das, Paul Thornton, Darrel Waggoner, Daniela del Gaudio

    منشور في 2018
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  18. 18
    The UK Coronavirus Cancer Monitoring Project: protecting patients with cancer in the era of COVID-19

    The UK Coronavirus Cancer Monitoring Project: protecting patients with cancer in the era of COVID-19 حسب Iris Anil, Roland Arnold, Sam Benkwitz-Beford, Simon Branford, Naomi Campton, Jean‐Baptiste Cazier, Vinton W.T. Cheng, Helen Curley, Jamie D'Costa, Andrew C. Edmondson, Anshita Goel, Simon Hartley, D.J. Hughes, Rachel Kerr, Alvin Lee, Lennard Y. W. Lee, Naomi Longworth, Christopher Middleton, Gary Middleton, Piangfan Naksukpaiboon, Anna Olsson‐Brown, Claire Palles, Karin Purshouse, Carol Sandys, Archana Sharma‐Oates, Shivan Sivakumar, Ashley J. Smith, Thomas Starkey, Simon Thompson, Csilla Várnai

    منشور في 2020
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  19. 19
    Novel congenital disorder of <i>O</i>-linked glycosylation caused by GALNT2 loss of function

    Novel congenital disorder of <i>O</i>-linked glycosylation caused by GALNT2 loss of function حسب Monica Zilmer, Andrew C. Edmondson, Sumeet A. Khetarpal, Viola Alesi, Maha S. Zaki, Kevin Rostásy, Charlotte Madsen, Francesca Romana Lepri, Lorenzo Sinibaldi, Raffaella Cusmai, Antonio Novelli, Mahmoud Y. Issa, Christina Fenger, Rami Abou Jamra, Heiko Reutter, Silvana Briuglia, Emanuele Agolini, Lars Hestbjerg Hansen, Ulla E. Petäjä‐Repo, John Hintze, Kimiyo Raymond, Kristen Liedtke, Valentina Stanley, Damir Musaev, Joseph G. Gleeson, Cecilia Vitali, William T. O’Brien, Elena Gardella, Guido Rubboli, Daniel J. Rader, Katrine T. Schjoldager, Rikke S. Møller

    منشور في 2020
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  20. 20
    Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation

    Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation حسب D.L. Polla, Andrew C. Edmondson, Sandrine Duvet, Michael March, Ana Berta Sousa, Anna Lehman, Dmitriy Niyazov, Fleur van Dijk, Serwet Demirdas, Marjon A. van Slegtenhorst, Anneke J.A. Kievit, Céline Schulz, Linlea Armstrong, Xin Bi, Daniel J. Rader, Kosuke Izumi, Elaine H. Zackai, Elisa De Franco, Paula Jorge, Sophie C. Huffels, Marina P. Hommersom, Sian Ellard, Dirk J. Lefeber, Avni Santani, Nicholas J. Hand, Hans van Bokhoven, Miao He, Arjan P.M. de Brouwer

    منشور في 2021
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