অনুসন্ধান ফলাফলগুলি - Annette Feigenbaum

  • প্রদর্শন 1 - 17 ফলাফল এর 17
ফলাফল পরিমার্জন করুন
  1. 1
    Arginase I deficiency: Severe infantile presentation with hyperammonemia: More common than reported?

    Arginase I deficiency: Severe infantile presentation with hyperammonemia: More common than reported? অনুযায়ী Shailly Jain‐Ghai, Sandesh C.S. Nagamani, Susan Blasér, Komudi Siriwardena, Annette Feigenbaum

    প্রকাশিত 2011
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  2. 2
    Mutation Characterization and Genotype-Phenotype Correlation in Barth Syndrome

    Mutation Characterization and Genotype-Phenotype Correlation in Barth Syndrome অনুযায়ী Jennifer J. Johnston, Richard I. Kelley, Annette Feigenbaum, Gerald F. Cox, Geeta Iyer, Vicky L. Funanage, Roy Proujansky

    প্রকাশিত 1997
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  3. 3
    Phospholipid abnormalities in children with Barth syndrome

    Phospholipid abnormalities in children with Barth syndrome অনুযায়ী Michael Schlame, Richard I. Kelley, Annette Feigenbaum, Jeffrey A. Towbin, Paul M. Heerdt, Thomas Schieble, Ronald J. A. Wanders, Salvatore DiMauro, Thomas J. J. Blanck

    প্রকাশিত 2003
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  4. 4
    Ammonia control in children with urea cycle disorders (UCDs); Phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate

    Ammonia control in children with urea cycle disorders (UCDs); Phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate অনুযায়ী Uta Lichter‐Konecki, George A. Díaz, J. Lawrence Merritt, Annette Feigenbaum, Claudia Jomphe, Jean‐Francois Marier, Martin Béliveau, Joe Mauney, Klara Dickinson, Antonia Martínez, Masoud Mokhtarani, Bruce F. Scharschmidt, William J. Rhead

    প্রকাশিত 2011
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  5. 5
    A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome

    A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome অনুযায়ী Frank Rutsch, Mary MacDougall, Changming Lu, Insa Buers, Olga Mamaeva, Yvonne Nitschke, Gillian Rice, Heidi Erlandsen, Hans-Gerd Kehl, Hölger Thiele, Peter Nürnberg, Wolfgang Höhne, Yanick J. Crow, Annette Feigenbaum, Raoul C. Hennekam

    প্রকাশিত 2015
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  6. 6
    A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency

    A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency অনুযায়ী Georgianne L. Arnold, Johan Van Hove, Debra Freedenberg, Arnold W. Strauss, Nicola Longo, Barbara K. Burton, Cheryl Garganta, Can Fıçıcıoğlu, Stephen Cederbaum, Cary O. Harding, Richard G. Boles, Dietrich Matern, Pranesh Chakraborty, Annette Feigenbaum

    প্রকাশিত 2009
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  7. 7
    Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy

    Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy অনুযায়ী Sietske H. Kevelam, Marianna Bugiani, Gajja S. Salomons, Annette Feigenbaum, Susan Blasér, Chitra Prasad, Johannes Häberle, Ivo Barić, Ingrid Bakker, Nienke L. Postma, Warsha A. Kanhai, Nicole I. Wolf, Truus E. M. Abbink, Quinten Waisfisz, Peter Heutink, Marjo S. van der Knaap

    প্রকাশিত 2013
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  8. 8
    Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene

    Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene অনুযায়ী Diane B. Zastrow, Heather Baudet, Wei Shen, Amanda Thomas‐Wilson, Yue Si, Meredith Weaver, Angela M. Lager, Jixia Liu, Rachel Mangels, Selina S. Dwight, Matt W. Wright, Steven F. Dobrowolski, Karen Eilbeck, Gregory M. Enns, Annette Feigenbaum, Uta Lichter‐Konecki, Elaine Lyon, Marzia Pasquali, Michael S. Watson, Nenad Blau, Robert D. Steiner, William J. Craigen, Rong Mao

    প্রকাশিত 2018
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  9. 9
    The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study

    The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study অনুযায়ী Maria D. Karaceper, Pranesh Chakraborty, Doug Coyle, Kumanan Wilson, Jonathan B. Kronick, Steven Hawken, Christine Davies, Marni Brownell, Linda Dodds, Annette Feigenbaum, Deshayne B. Fell, Scott D. Grosse, Astrid Guttmann, Anne‐Marie Laberge, Aizeddin A. Mhanni, Fiona A. Miller, John J. Mitchell, Meranda Nakhla, Chitra Prasad, Cheryl R. Greenberg, Rebecca Sparkes, Brenda J. Wilson, Beth K. Potter

    প্রকাশিত 2016
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  10. 10
    Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium

    Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium অনুযায়ী Jennifer Seminara, Mendel Tuchman, Lauren Krivitzky, Jeffrey P. Krischer, Hye Seung Lee, Cynthia LeMons, Matthias R. Baumgartner, Stephen Cederbaum, George A. Díaz, Annette Feigenbaum, Renata C. Gallagher, Cary O. Harding, Douglas S. Kerr, Brendan C. Lanpher, Brendan Lee, Uta Lichter‐Konecki, Shawn E. McCandless, J. Lawrence Merritt, Mary Lou Oster‐Granite, Margretta R. Seashore, Tamar Stricker, Marshall Summar, Susan E. Waisbren, Marc Yudkoff, Mark L. Batshaw

    প্রকাশিত 2010
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Revisão
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  11. 11
    Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate

    Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate অনুযায়ী George A. Díaz, Lauren Krivitzky, Masoud Mokhtarani, William J. Rhead, James Bartley, Annette Feigenbaum, Nicola Longo, William Berquist, Susan A. Berry, Renata C. Gallagher, Uta Lichter‐Konecki, Dennis Bartholomew, Cary O. Harding, Stephen Cederbaum, Shawn E. McCandless, Wendy E. Smith, Jerry Vockley, Stephen A. Bart, Mark Korson, David Kronn, Roberto Zori, Lawrence Merritt, Sandesh C. Sreenath Nagamani, Joseph Mauney, Cynthia LeMons, Klara Dickinson, Tristen Moors, Dion F. Coakley, Bruce F. Scharschmidt, Brendan Lee

    প্রকাশিত 2012
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  12. 12
    Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders

    Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders অনুযায়ী Masoud Mokhtarani, George A. Díaz, William J. Rhead, Uta Lichter‐Konecki, James Bartley, Annette Feigenbaum, Nicola Longo, William Berquist, Susan A. Berry, Renata C. Gallagher, Dennis Bartholomew, Cary O. Harding, Mark Korson, Shawn E. McCandless, Wendy E. Smith, Jerry Vockley, Stephen A. Bart, David Kronn, Roberto Zori, Stephen Cederbaum, Naghmeh Dorrani, J. Lawrence Merritt, Sandesh Sreenath-Nagamani, Marshall Summar, Cynthia LeMons, Klara Dickinson, Dion F. Coakley, Tristen Moors, B. Lee, Bruce F. Scharschmidt

    প্রকাশিত 2012
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  13. 13
    Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

    Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society অনুযায়ী Sumit Parikh, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Irina Anselm, Catherine Brunel‐Guitton, John Christodoulou, Bruce H. Cohen, David Dimmock, Gregory M. Enns, Marni J. Falk, Annette Feigenbaum, Richard E. Frye, Jaya Ganesh, David A. Griesemer, Richard Haas, Rita Horváth, Mark Korson, Michael C. Kruer, Michelangelo Mancuso, Shana E. McCormack, Marie Josée Raboisson, Tyler Reimschisel, Ramona Salvarinova, Russell P. Saneto, Fernando Scaglia, John M. Shoffner, Peter W. Stacpoole, Carolyn M. Sue, Mark A. Tarnopolsky, Clara van Karnebeek, Lynne A. Wolfe, Zarazuela Zolkipli Cunningham, Shamima Rahman, Patrick F. Chinnery

    প্রকাশিত 2017
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Revisão
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  14. 14
    A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases

    A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases অনুযায়ী Stephen F. Kingsmore, Laurie D. Smith, Chris M. Kunard, Matthew Bainbridge, Serge Batalov, Wendy Benson, Eric Blincow, Sara Caylor, Christina Chambers, Guillermo del Angel, David Dimmock, Yan Ding, Katarzyna A. Ellsworth, Annette Feigenbaum, Erwin Frise, Robert C. Green, Lucia Guidugli, Kevin P. Hall, Christian Holm Hansen, Charlotte A. Hobbs, Scott D. Kahn, Mark J. Kiel, Lucita Van Der Kraan, Chad Krilow, Yong Hyun Kwon, Lakshminarasimha Madhavrao, Jennie Le, Sébastien Lefebvre, Rebecca Mardach, William R. Mowrey, Danny Oh, Mallory Owen, George S. Powley, Gunter Scharer, Seth Shelnutt, Mari Tokita, Shyamal Mehtalia, Albert Oriol, Stavros Papadopoulos, James C. Perry, Edwin F. Juarez, Erica Sanford Kobayashi, Steven J. Schwartz, Duke Tran, Martin G. Reese, Meredith S. Wright, Narayanan Veeraraghavan, Kristen Wigby, Mary Willis, Aaron R. Wolen, Thomas Defay

    প্রকাশিত 2022
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Revisão
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  15. 15
    Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

    Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy অনুযায়ী Laura van Berge, Eline M. Hamilton, Tarja Linnankivi, G. Uziel, Marjan E. Steenweg, Pirjo Isohanni, Nicole I. Wolf, Ingeborg Krägeloh‐Mann, N. J. Brautaset, P. Ian Andrews, Brigit A. de Jong, Malak Al Ghamdi, Wessel N. van Wieringen, Bakhos A. Tannous, Esther Hulleman, T. Wurdinger, Carola G.M. van Berkel, Emiel Polder, Truus E. M. Abbink, Eduard A. Struys, Gert C. Scheper, Marjo S. van der Knaap, F. Alehan, Richard Appleton, Eugen Boltshauser, Knut Brockmann, E Calado, A. Carius, I.F.M. de Coo, Rudy Van Coster, S. El-Zind, Özdem Ertürk Çetin, Л. М. Фадеева, Annette Feigenbaum, Sarenur Gökben, Mark Gorman, Sheffali Gulati, P. Hnevsova, Kairit Joost, Wolfgang Köhler, Anneli Kolk, Wolfgang Kristoferitsch, Elizabeth Lemos Silveira, Jaime Lin, S. Lutz, Carla Mendonça, C. Nuttin, Thomas Opladen, M. Savoiardo, Raphael Schiffmann, Angelika Seitz, S V Serkov, Shruti Sharma, Sylvia Stöckler, I. Karen Temple, Kayıhan Uluç, S. Vojta, Guy Wilms, Betty Wong, Zühal Yapıcı

    প্রকাশিত 2014
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:
  16. 16
    An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases

    An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases অনুযায়ী Mallory Owen, Sébastien Lefebvre, Christian Holm Hansen, Chris M. Kunard, David Dimmock, Laurie D. Smith, Gunter Scharer, Rebecca Mardach, Mary Willis, Annette Feigenbaum, Anna‐Kaisa Niemi, Yan Ding, Luca Van Der Kraan, Katarzyna A. Ellsworth, Lucia Guidugli, Bryan R. Lajoie, Timothy K. McPhail, Shyamal Mehtalia, Kevin Chau, Yong Hyun Kwon, Zhanyang Zhu, Serge Batalov, Shimul Chowdhury, Seema Rego, James C. Perry, Mark Speziale, Mark Nespeca, Meredith S. Wright, Martin G. Reese, Francisco M. De La Vega, Joe Azure, Erwin Frise, Charlene Son Rigby, Sandy White, Charlotte A. Hobbs, Sheldon Gilmer, G. R. Knight, Albert Oriol, Jerica Lenberg, Shareef Nahas, Kate Perofsky, Kyu Kim, Jeanne Carroll, Nicole G. Coufal, Erica Sanford Kobayashi, Kristen Wigby, Jacqueline C. Weir, Vicki S. Thomson, Louise Fraser, Seka Lazare, Yoon H. Shin, Haiying Grunenwald, Richard Lee, David Jones, Duke Tran, Andrew M. Gross, Patrick Daigle, Anne Case, Marisa Lue, James A. Richardson, John Reynders, Thomas Defay, Kevin P. Hall, Narayanan Veeraraghavan, Stephen F. Kingsmore

    প্রকাশিত 2022
    সম্পূর্ণ পাঠ পাওয়ার জন্য সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
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  17. 17
    An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm

    An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm অনুযায়ী David Dimmock, Michelle M. Clark, Mary Gaughran, Julie A. Cakici, Sara Caylor, Christina Clarke, Michele Feddock, Shimul Chowdhury, Lisa Salz, Cynthia Cheung, Lynne M. Bird, Charlotte A. Hobbs, Kristen Wigby, Lauge Farnaes, Cinnamon S. Bloss, Stephen F. Kingsmore, Matthew N. Bainbridge, Jaime Barea, Serge Batalov, Zaira Bezares, Lynne M. Bird, Cinnamon S. Bloss, Joshua J.A. Braun, Julie A. Cakici, Miguel Del Campo, Jeanne Carroll, Cynthia Cheung, Casey Cohenmeyer, Nicole G. Coufal, Carlos Bustamante, Yan Ding, Katarzyna A. Ellsworth, Marva Evans, Annette Feigenbaum, Jennifer Friedman, Joe Gleeson, Christian Holm Hansen, Jose Honold, Kiely N. James, Marilyn C. Jones, Amy Kimball, G. R. Knight, Lucitia Van Der Kraan, Brian R. Lane, Jennie Le, Sandra L. Leibel, Jerica Lenberg, Dana Mashburn, Laurel Moyer, Patrick Mulrooney, Shareef Nahas, Daeheon Oh, Daniken Orendain, Albert Oriol, Maria Ortiz-Arechiga, Lawrence S. Prince, Seema Rego, Iris Reyes, Erica Sanford Kobayashi, Charles W. Sauer, Leila K. Schwanemann, Mark Speziale, Denise Suttner, Nathaly M. Sweeney, Richard Song, Mari Tokita, Narayanan Veeraraghavan, Kelly Watkins, Terence C. Wong, Meredith S. Wright, Catherine Yamada

    প্রকাশিত 2020
    সম্পূর্ণ পাঠ পাওয়ার জন্য
    Artigo
    তালিকাভুক্ত করুন
    সংরক্ষণ করুন:

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