Ohcanbohtosat - Simone Ardern‐Holmes
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Neurofibromatosis Type 2 Dahkki Simone Ardern‐Holmes, Gemma Fisher, Kathryn N. North
Almmustuhtton 2016Revisão -
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Functional outcome measures for NF1-associated optic pathway glioma clinical trials Dahkki Michael J. Fisher, Robert A. Avery, Jeffrey C. Allen, Simone Ardern‐Holmes, Larissa T. Bilaniuk, Rosalie E. Ferner, David H. Gutmann, Robert Listernick, Staci Martin, Nicole J. Ullrich, Grant T. Liu
Almmustuhtton 2013Artigo -
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Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy Dahkki Kavitha Kothur, Katherine Holman, Elizabeth Farnsworth, Gladys Ho, Michelle Lorentzos, Christopher Troedson, Sachin Gupta, Richard Webster, Peter G. Procopis, Manoj P. Menezes, Jayne Antony, Simone Ardern‐Holmes, Russell C. Dale, John Christodoulou, Deepak Gill, Bruce Bennetts
Almmustuhtton 2018Artigo -
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Functional correlates of clinical phenotype and severity in recurrent SCN2A variants Dahkki Géza Berecki, Katherine B. Howell, Jacqueline Heighway, N.B. Olivier, Jill Rodda, Isabella Overmars, Danique R.M. Vlaskamp, Tyson L. Ware, Simone Ardern‐Holmes, Gaëtan Lesca, Michael Alber, Pierangelo Veggiotti, Ingrid E. Scheffer, Samuel F. Berkovic, Markus Wolff, Steven Petrou
Almmustuhtton 2022Artigo -
5
Visual outcomes in children with neurofibromatosis type 1-associated optic pathway glioma following chemotherapy: a multicenter retrospective analysis Dahkki MJ Fisher, Michael J. Loguidice, David H. Gutmann, Robert Listernick, Rosalie E. Ferner, Nicole J. Ullrich, R. J. Packer, Uri Tabori, Robert Hoffman, Simone Ardern‐Holmes, Trent R. Hummel, Darren Hargrave, Éric Bouffet, Joel Charrow, Larissa T. Bilaniuk, Laura J. Balcer, G. T. Liu
Almmustuhtton 2012Artigo -
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<scp>CSF</scp> neopterin and quinolinic acid are biomarkers of neuroinflammation and neurotoxicity in <scp>FIRES</scp> and other infection‐triggered encephalopathy syndromes Dahkki Russell C. Dale, Terrence Thomas, Shrujna Patel, Velda X. Han, Kavitha Kothur, Christopher Troedson, Sachin Gupta, Deepak Gill, Stephen Malone, Michaela Waak, Sophie Calvert, Gopinath Subramanian, P Ian Andrews, Tejaswi Kandula, Manoj P. Menezes, Simone Ardern‐Holmes, Shekeeb S. Mohammad, Sushil Bandodkar, Jingya Yan
Almmustuhtton 2023Artigo -
7
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy Dahkki Jessica X. Chong, Viviana Caputo, Ian G. Phelps, Lorenzo Stella, Lisa Worgan, Jennifer C. Dempsey, Alina Nguyen, Vincenzo Leuzzi, Richard Webster, Antonio Pizzuti, Colby T. Marvin, Gisele E. Ishak, Simone Ardern‐Holmes, Zara Richmond, Michael J. Bamshad, Xilma R. Ortiz‐González, Marco Tartaglia, Maya Chopra, Dan Doherty
Almmustuhtton 2016Artigo -
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Recommendations for imaging tumor response in neurofibromatosis clinical trials Dahkki Eva Dombi, Simone Ardern‐Holmes, Dusica Babovic‐Vuksanovic, Fred G. Barker, Steve Connor, D. Gareth Evans, Michael J. Fisher, Stéphane Goutagny, Gordon J. Harris, Diego Jaramillo, Matthias A. Karajannis, Bruce R. Korf, Victor Mautner, Scott R. Plotkin, Tina Young Poussaint, Kent A. Robertson, Chie‐Schin Shih, Brigitte C. Widemann
Almmustuhtton 2013Artigo -
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CSF neopterin, quinolinic acid and kynurenine/tryptophan ratio are biomarkers of active neuroinflammation Dahkki Jingya Yan, Kavitha Kothur, Shekeeb S. Mohammad, Jason E. Chung, Shrujna Patel, Hannah Jones, Brooke A. Keating, Velda X. Han, Richard Webster, Simone Ardern‐Holmes, Jayne Antony, Manoj P. Menezes, Esther Tantsis, Deepak Gill, Sachin Gupta, Tejaswi Kandula, Hugo Sampaio, Michelle A. Farrar, Christopher Troedson, P Ian Andrews, Sekhar Pillai, Benjamin Heng, Gilles J. Guillemin, Anna Guller, Sushil Bandodkar, Russell C. Dale
Almmustuhtton 2023Artigo -
10
Patient-reported outcomes of pain and physical functioning in neurofibromatosis clinical trials Dahkki Pamela L. Wolters, Staci Martin, Vanessa L. Merker, James H. Tonsgard, Sondra E. Solomon, Andrea Baldwin, Amanda Bergner, Karin S. Walsh, Heather L. Thompson, Kathy Gardner, Cynthia M. Hingtgen, Elizabeth K. Schorry, William N. Dudley, Barbara Franklin, Shivani Ahlawat, Srivandana Akshintala, Jeffrey C. Allen, Simone Ardern‐Holmes, Robert A. Avery, Amedeo A. Azizi, Dusica Babovic‐Vuksanovic, Annette Bakker, Andrea Baldwin, Fred G. Barker, Amanda Bergner, Chetan Bettegowda, Sucharita Bhaumik, Larissa T. Bilaniuk, Kim Bischoff, Jaishri Blakely, Diana Bradford, Miriam A. Bredella, Wenli Cai, John Carino, Avneesh Chabra, Patricia Ciavarelli, Wade Clapp, Steve Connor, Albert Cornelius, Tambra Dahlheimer, Stephanie H. Davis, Peter de Blank, Vidya Dhote, Joni K. Doherty, Eva Dombi, William N. Dudley, Rachel Ershler, D. Gareth Evans, Laura M. Fayad, Cristina Fernández‐Valle, Rosalie E. Ferner, Michael J. Fisher, Barbara Franklin, Giulia Fulci, Tracy Galloway, Kathy Gardner, Richard Gedrich, Marco Giovannini, Amy Goldstein, Anne Goodwin, Stéphane Goutagny, David H. Gutmann, Theresa Hadlock, Chris Halpin, C. Oliver Hanemann, Kristina K. Hardy, Gordon J. Harris, Desiree Headley, Gena Heidary, Jonathan Heller, Cynthia M. Hingtgen, Trent R. Hummel, Susan Huson, Michael A. Jacobs, Jennifer Janusz, Diego Jaramillo, Justin T. Jordan, Allen Julian, Michel Kalamarides, Matthias A. Karajannis, Bonnie Klein-Tasman, Pamela Knight, Bruce R. Korf, Shannon Langmead, Theresa LaVallee, Fawn Leigh, Donita Lightner, Carol Lin, Robert Listernick, Grant Liu, Mevo Marco, Carole L. Marcus, Gabriella Mariani, Staci Martin, Victor Mautner, Vanessa L. Merker, Michael J. Ferguson, Chris Moertel, Jill A. Morris, Katrina Morris
Almmustuhtton 2016Artigo -
11
Current whole-body MRI applications in the neurofibromatoses Dahkki Shivani Ahlawat, Laura M. Fayad, Muhammad Shayan Khan, Miriam A. Bredella, Gordon J. Harris, D. Gareth Evans, Said Farschtschi, Michael A. Jacobs, Avneesh Chhabra, Johannes Salamon, Ralph Wenzel, Victor F. Mautner, Eva Dombi, Wenli Cai, Scott R. Plotkin, Jaishri O. Blakeley, Shivani Ahlawat, Srivandana Akshintala, Jeffrey C. Allen, Simone Ardern‐Holmes, Robert A. Avery, Amedeo A. Azizi, Dusica Babovic‐Vuksanovic, Annette Bakker, Andrea Baldwin, Fred G. Barker, Amanda Bergner, Chetan Bettegowda, Sucharita Bhaumik, Larissa T. Bilaniuk, Kim Bischoff, Jaishri Blakely, Diana Bradford, Miriam A. Bredella, Wenli Cai, John Carino, Avneesh Chabra, Patricia Ciavarelli, Wade Clapp, Steve Connor, Albert Cornelius, Tambra Dahlheimer, Stephanie H. Davis, Peter de Blank, Vidya Dhote, Joni K. Doherty, Eva Dombi, William N. Dudley, Rachel Ershler, D. Gareth Evans, Laura M. Fayad, Cristina Fernández‐Valle, Rosalie E. Ferner, Michael J. Fisher, Barbara Franklin, Giulia Fulci, Tracy Galloway, Kathy Gardner, Richard Gedrich, Marco Giovannini, Amy Goldstein, Anne Goodwin, Stéphane Goutagny, David H. Gutmann, Theresa Hadlock, Chris Halpin, C. Oliver Hanemann, Kristina K. Hardy, Gordon J. Harris, Desiree Headley, Gena Heidary, Jonathan Heller, Cynthia M. Hingtgen, Trent R. Hummel, Susan Huson, Michael A. Jacobs, Jennifer Janusz, Diego Jaramillo, Justin T. Jordan, Allen Julian, Michel Kalamarides, Matthias A. Karajannis, Bonnie Klein-Tasman, Pamela Knight, Bruce R. Korf, Shannon Langmead, Theresa LaVallee, Fawn Leigh, Donita Lightner, Carol Lin, Robert Listernick, Grant Liu, Mevo Marco, Carole L. Marcus, Gabriella Mariani, Staci Martin, Victor Mautner, Vanessa L. Merker, Michael J. Ferguson, Chris Moertel
Almmustuhtton 2016Artigo
Ohcanreaiddut:
Laktáseaddji fáttát
Medicine
Internal medicine
Neurofibromatosis
Biology
Clinical trial
Gene
Genetics
Pathology
Pediatrics
Phenotype
Radiology
Amino acid
Biochemistry
Exome sequencing
Immunology
Inflammation
Neopterin
Neuroinflammation
Psychiatry
Quinolinic acid
Surgery
Tryptophan
Audiology
Autism
Autism spectrum disorder
Bioinformatics
Biomarker
Cancer research
Cell biology
Cerebrospinal fluid