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  1. 1
    Mitochondrial Syndromes with Leukoencephalopathies

    Mitochondrial Syndromes with Leukoencephalopathies por Lee‐Jun Wong

    Publicado 2012
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  2. 2
    Direct detection of multiple point mutations in mitochondrial DNA

    Direct detection of multiple point mutations in mitochondrial DNA por Lee-Jun Wong, Dinithi Senadheera

    Publicado 1997
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  3. 3
    Mitochondrial Neurogastrointestinal Encephalopathy Due to Mutations in RRM2B

    Mitochondrial Neurogastrointestinal Encephalopathy Due to Mutations in RRM2B por Aziz Shaibani, Oleg A. Shchelochkov, Shulin Zhang, Panagiotis Katsonis, Olivier Lichtarge, Lee-Jun Wong, Marwan Shinawi

    Publicado 2009
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  4. 4
    POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders

    POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders por Russell P. Saneto, Inn-Chi Lee, Mary Kay Koenig, Xinhua Bao, Shao-Wen Weng, Robert K. Naviaux, Lee-Jun Wong

    Publicado 2010
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  5. 5
    Small heterodimer partner deletion prevents hepatic steatosis and when combined with farnesoid X receptor loss protects against type 2 diabetes in mice

    Small heterodimer partner deletion prevents hepatic steatosis and when combined with farnesoid X receptor loss protects against type 2 diabetes in mice por Oludemilade Akinrotimi, Ryan Riessen, Philip VanDuyne, Jung Eun Park, Yoon Kwang Lee, Lee‐Jun Wong, Ann Marie Zavacki, Kristina Schoonjans, Sayeepriyadarshini Anakk

    Publicado 2017
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  6. 6
    The in-depth evaluation of suspected mitochondrial disease

    The in-depth evaluation of suspected mitochondrial disease por Richard Haas, Sumit Parikh, Marni J. Falk, Russell P. Saneto, Nicole I. Wolf, Niklas Darín, Lee-Jun Wong, Bruce H. Cohen, Robert K. Naviaux

    Publicado 2008
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  7. 7
    Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene

    Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene por Lindsay C. Burrage, Sha Tang, Jing Wang, Taraka Donti, Magdalena Walkiewicz, James M. Luchak, Li-Chieh Chen, Eric Schmitt, Zhiyv Niu, Rodrigo Eraña, Jill V. Hunter, Brett H. Graham, Lee-Jun Wong, Fernando Scaglia

    Publicado 2014
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  8. 8
    Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS

    Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS por Tian Xia, Wen‐Chen Liang, Yanming Feng, Jing Wang, Victor Wei Zhang, Chih‐Hung Chou, Hsien‐Da Huang, Ching Wan Lam, Ya-Yun Hsu, Thy-Sheng Lin, Wan-Tzu Chen, Lee-Jun Wong, Yuh‐Jyh Jong

    Publicado 2015
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  9. 9
    Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States

    Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States por Marcus J. Miller, Lindsay C. Burrage, James B. Gibson, Meghan E. Strenk, Edward J. Lose, David Bick, Sarah H. Elsea, V. Reid Sutton, Qin Sun, Brett H. Graham, William J. Craigen, Victor Wei Zhang, Lee-Jun Wong

    Publicado 2015
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  10. 10
    Combinations of Variations in Multiple Genes Are Associated With Hypertension

    Combinations of Variations in Multiple Genes Are Associated With Hypertension por Scott M. Williams, Jonathan H. Addy, John A. Phillips, Min Dai, John Kpodonu, James Afful, H. Jackson, K.-K.Li Joseph, Felicia Eason, Mark M Murray, Pamela Epperson, Adwoa Aduonum, Lee-Jun Wong, Pedro A. José, Robin A. Felder

    Publicado 2000
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  11. 11
    Biparental Inheritance of Mitochondrial DNA in Humans

    Biparental Inheritance of Mitochondrial DNA in Humans por Shiyu Luo, C. Alexander Valencia, Jinglan Zhang, Ni‐Chung Lee, Jesse Slone, Baoheng Gui, Xinjian Wang, Zhuo Li, Sarah Dell, Jenice Brown, Stella Maris Chen, Yin‐Hsiu Chien, Wuh‐Liang Hwu, Pi‐Chuan Fan, Lee-Jun Wong, Paldeep S. Atwal, Taosheng Huang

    Publicado 2018
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  12. 12
    Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide

    Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide por Sylvia Stöckler‐Ipsiroglu, Delia Apatean, Roberta Battini, Suzanne D. DeBrosse, Kimberley Dessoffy, Simon Edvardson, Florian Eichler, Katherine Johnston, David M. Koeller, Sonia Nouioua, Mériem Tazir, Ashok Verma, Monica D. Dowling, Klaas J. Wierenga, Andrea M. Wierenga, Victor Wei Zhang, Lee-Jun Wong

    Publicado 2015
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  13. 13
    G protein-coupled receptor kinase 4 gene variants in human essential hypertension

    G protein-coupled receptor kinase 4 gene variants in human essential hypertension por Robin A. Felder, Hironobu Sanada, Jing Xu, Pei-Ying Yu, Zheng Wang, Hidetsuna Watanabe, Laureano D. Asico, Wei Wang, Shaopeng Zheng, Ikuyo Yamaguchi, Scott M. Williams, James S. Gainer, Nancy J. Brown, Debra J. Hazen‐Martin, Lee-Jun Wong, J Robillard, Robert M. Carey, Gilbert M. Eisner, Pedro A. José

    Publicado 2002
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  14. 14
    Molecular and clinical genetics of mitochondrial diseases due to<i>POLG</i>mutations

    Molecular and clinical genetics of mitochondrial diseases due to<i>POLG</i>mutations por Lee-Jun Wong, Robert K. Naviaux, Nicola Brunetti‐Pierri, Qing Zhang, Eric Schmitt, Cavatina K. Truong, Margherita Milone, Bruce H. Cohen, Beverly Wical, Jaya Ganesh, Alice Basinger, Barbara K. Burton, Kathryn J. Swoboda, Donald L. Gilbert, Adeline Vanderver, Russell P. Saneto, Bruno Maranda, Georgianne Arnold, José E. Abdenur, Paula J. Waters, William C. Copeland

    Publicado 2008
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  15. 15
    <i>MPV17</i>-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects

    <i>MPV17</i>-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects por Ayman W. El‐Hattab, Julia Wang, Hongzheng Dai, Mohammed Almannai, Christian Staufner, Majid Alfadhel, Michael J. Gambello, Pankaj Prasun, Saleem Raza, Hernando Lyons, Manal Afqi, Mohammed A. Saleh, Eissa Faqeih, Hamad Alzaidan, Abduljabbar Alshenqiti, Leigh Anne Flore, Jozef Hertecant, Stephanie Sacharow, Deborah Barbouth, Kei Murayama, Amit A. Shah, Henry C. Lin, Lee-Jun Wong

    Publicado 2017
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  16. 16
    Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction

    Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction por Julia Wang, Justine Rousseau, Emily Kim, Sophie Ehresmann, Yi-Ting Cheng, Lita Duraine, Zhongyuan Zuo, Ye-Jin Park, David Li‐Kroeger, Weimin Bi, Lee-Jun Wong, Jill A. Rosenfeld, Joseph G. Gleeson, Eissa Faqeih, Fowzan S. Alkuraya, Klaas J. Wierenga, Jiani Chen, Alexandra Afenjar, Caroline Nava, Diane Doummar, Boris Keren, Jane Juusola, Markus Grompe, Hugo J. Bellen, Philippe M. Campeau

    Publicado 2019
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  17. 17
    Fatty Acid Oxidation-Driven Src Links Mitochondrial Energy Reprogramming and Oncogenic Properties in Triple-Negative Breast Cancer

    Fatty Acid Oxidation-Driven Src Links Mitochondrial Energy Reprogramming and Oncogenic Properties in Triple-Negative Breast Cancer por Jun Hyoung Park, Sajna Antony Vithayathil, Santosh Kumar, Pi‐Lin Sung, Lacey E. Dobrolecki, Vasanta Putluri, Vadiraja B. Bhat, Salil Kumar Bhowmik, Vineet K. Gupta, Kavisha Arora, Danli Wu, Efrosini Tsouko, Yiqun Zhang, Suman Kumar Maity, Taraka Donti, Brett H. Graham, Daniel E. Frigo, Cristian Coarfa, Patricia Yotnda, Nagireddy Putluri, Arun Sreekumar, Michael T. Lewis, Chad J. Creighton, Lee-Jun Wong, Benny Abraham Kaipparettu

    Publicado 2016
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  18. 18
    Novel (ovario) leukodystrophy related to <i>AARS2</i> mutations

    Novel (ovario) leukodystrophy related to <i>AARS2</i> mutations por Cristina Dallabona, Daria Diodato, Sietske H. Kevelam, Tobias B. Haack, Lee-Jun Wong, Gajja S. Salomons, Enrico Baruffini, Laura Melchionda, Caterina Mariotti, Tim M. Strom, Thomas Meitinger, Holger Prokisch, Colin A. Chapman, Alison Colley, Helena Rocha, Katrin Õunap, Raphael Schiffmann, Ettore Salsano, M. Savoiardo, Eline M. Hamilton, Truus E. M. Abbink, Nicole I. Wolf, Ileana Ferrero, Costanza Lamperti, Massimo Zeviani, Adeline Vanderver, Daniele Ghezzi, Marjo S. van der Knaap

    Publicado 2014
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  19. 19
    A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects

    A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects por Jinglan Zhang, Véronik Lachance, Adam Schaffner, Xianting Li, Anastasia Fedick, Lauren E. Kaye, Jun Liao, Jill A. Rosenfeld, Naomi Yachelevich, M. L. Chu, Wendy G. Mitchell, Richard G. Boles, Ellen Moran, Mari Tokita, Elizabeth Gorman, Kaytee Bagley, Victor Wei Zhang, Fan Xia, Magalie S. Leduc, Yaping Yang, Christine M. Eng, Lee-Jun Wong, Raphael Schiffmann, George A. Díaz, Ruth Kornreich, Ryan Thummel, Melissa Wasserstein, Zhenyu Yue, Lisa Edelmann

    Publicado 2016
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  20. 20
    MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

    MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death por Mohammad K. Eldomery, Zeynep Coban‐Akdemir, F.‐Nora Vögtle, Wu‐Lin Charng, Patrycja Mulica, Jill A. Rosenfeld, Tomasz Gambin, Shen Gu, Lindsay C. Burrage, Aisha Al Shamsi, Samantha Penney, Shalini N. Jhangiani, Holly H. Zimmerman, Donna M. Muzny, Xia Wang, Jia Tang, Ravi Medikonda, Prasanna Venkatesh Ramachandran, Lee-Jun Wong, Eric Boerwinkle, Richard A. Gibbs, Christine M. Eng, Seema R. Lalani, Jozef Hertecant, Richard J. Rodenburg, Omar Abdul‐Rahman, Yaping Yang, Fan Xia, Meng C. Wang, James R. Lupski, Chris Meisinger, V. Reid Sutton

    Publicado 2016
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