Hasil Pencarian - George A Diaz

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  1. 1
    A novel Romani microdeletion variant in the promoter sequence of ASS1 causes citrullinemia type I

    A novel Romani microdeletion variant in the promoter sequence of ASS1 causes citrullinemia type I oleh Eri Imagawa, George A. Diaz, Kimihiko Oishi

    Diterbitkan 2020-09-01
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  2. 2
    Health insurance literacy and health services access barriers in Niemann–Pick disease: the patient and caregiver voice

    Health insurance literacy and health services access barriers in Niemann–Pick disease: the patient and caregiver voice oleh George A. Diaz, Joslyn Crowe, Justin Hopkin

    Diterbitkan 2022-09-01
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  3. 3
    Efficacy and safety of pegzilarginase in arginase 1 deficiency (PEACE): a phase 3, randomized, double-blind, placebo-controlled, multi-centre trialResearch in context

    Efficacy and safety of pegzilarginase in arginase 1 deficiency (PEACE): a phase 3, randomized, double-blind, placebo-controlled, multi-centre trialResearch in context oleh Rossana Sanchez Russo, Serena Gasperini, Gillian Bubb, Linda Neuman, Leslie S. Sloan, George A. Diaz, Gregory M. Enns

    Diterbitkan 2024-02-01
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  4. 4
    Olipudase alfa enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD): sustained improvements in clinical outcomes after 6.5 years of treatment in adults

    Olipudase alfa enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD): sustained improvements in clinical outcomes after 6.5 years of treatment in adults oleh Robin H. Lachmann, George A. Diaz, Melissa P. Wasserstein, Nicole M. Armstrong, Abhimanyu Yarramaneni, Yong Kim, Monica Kumar

    Diterbitkan 2023-04-01
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  5. 5
    Natural history of arginase 1 deficiency and the unmet needs of patients: A systematic review of case reports

    Natural history of arginase 1 deficiency and the unmet needs of patients: A systematic review of case reports oleh Aseel Bin Sawad, Arti Pothukuchy, Mark Badeaux, Victoria Hodson, Gillian Bubb, Kristina Lindsley, Jennifer Uyei, George A. Diaz

    Diterbitkan 2022-07-01
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  6. 6
    A simplified pneumonia severity index (PSI) for clinical outcome prediction in COVID-19.

    A simplified pneumonia severity index (PSI) for clinical outcome prediction in COVID-19. oleh Shu-Ching Chang, Gary L Grunkemeier, Jason D Goldman, Mansen Wang, Paul A McKelvey, Jennifer Hadlock, Qi Wei, George A Diaz

    Diterbitkan 2024-01-01
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  7. 7
    Acute metabolic decompensation due to influenza in a mouse model of ornithine transcarbamylase deficiency

    Acute metabolic decompensation due to influenza in a mouse model of ornithine transcarbamylase deficiency oleh Peter J. McGuire, Tatiana N. Tarasenko, Tony Wang, Ezra Levy, Patricia M. Zerfas, Thomas Moran, Hye Seung Lee, Brian J. Bequette, George A. Diaz

    Diterbitkan 2014-02-01
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  8. 8
    Impacts of incorporating personal genome sequencing into graduate genomics education: a longitudinal study over three course years

    Impacts of incorporating personal genome sequencing into graduate genomics education: a longitudinal study over three course years oleh Michael D. Linderman, Saskia C. Sanderson, Ali Bashir, George A. Diaz, Andrew Kasarskis, Randi Zinberg, Milind Mahajan, Sabrina A. Suckiel, Micol Zweig, Eric E. Schadt

    Diterbitkan 2018-01-01
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  9. 9
    Protein and calorie intakes in adult and pediatric subjects with urea cycle disorders participating in clinical trials of glycerol phenylbutyrate

    Protein and calorie intakes in adult and pediatric subjects with urea cycle disorders participating in clinical trials of glycerol phenylbutyrate oleh Debra Hook, George A. Diaz, Brendan Lee, James Bartley, Nicola Longo, William Berquist, Cynthia Le Mons, Ingrid Rudolph-Angelich, Marty Porter, Bruce F. Scharschmidt, Masoud Mokhtarani

    Diterbitkan 2016-03-01
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  10. 10
    Correction : Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results

    Correction : Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results oleh George A. Diaz, Roberto Giugliani, Nathalie Gufon, Simon A. Jones, Eugen Mengel, Maurizio Scarpa, Peter Witters, Abhimanyu Yarramaneni, Jing Li, Nicole M. Armstrong, Yong Kim, Catherine Ortemann-Renon, Monica Kumar

    Diterbitkan 2023-03-01
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  11. 11
    Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results

    Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results oleh George A. Diaz, Roberto Giugliani, Nathalie Guffon, Simon A. Jones, Eugen Mengel, Maurizio Scarpa, Peter Witters, Abhimanyu Yarramaneni, Jing Li, Nicole M. Armstrong, Yong Kim, Catherine Ortemann-Renon, Monica Kumar

    Diterbitkan 2022-12-01
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  12. 12
    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. oleh Jinglan Zhang, Véronik Lachance, Adam Schaffner, Xianting Li, Anastasia Fedick, Lauren E Kaye, Jun Liao, Jill Rosenfeld, Naomi Yachelevich, Mary-Lynn Chu, Wendy G Mitchell, Richard G Boles, Ellen Moran, Mari Tokita, Elizabeth Gorman, Kaytee Bagley, Wei Zhang, Fan Xia, Magalie Leduc, Yaping Yang, Christine Eng, Lee-Jun Wong, Raphael Schiffmann, George A Diaz, Ruth Kornreich, Ryan Thummel, Melissa Wasserstein, Zhenyu Yue, Lisa Edelmann

    Diterbitkan 2016-04-01
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  13. 13
    Evaluating parental personal utility of pediatric genetic and genomic testing in a diverse, multilingual population

    Evaluating parental personal utility of pediatric genetic and genomic testing in a diverse, multilingual population oleh Priya N. Marathe, Sabrina A. Suckiel, Katherine E. Bonini, Nicole R. Kelly, Laura Scarimbolo, Beverly J. Insel, Jacqueline A. Odgis, Monisha Sebastin, Michelle A. Ramos, Miranda Di Biase, Katie M. Gallagher, Kaitlyn Brown, Jessica E. Rodriguez, Nicole Yelton, Karla Lopez Aguiñiga, Michelle A. Rodriguez, Estefany Maria, Jessenia Lopez, Randi E. Zinberg, George A. Diaz, John M. Greally, Noura S. Abul-Husn, Laurie J. Bauman, Bruce D. Gelb, Melissa P. Wasserstein, Eimear E. Kenny, Carol R. Horowitz

    Diterbitkan 2024-07-01
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  14. 14
    The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing

    The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing oleh Monisha Sebastin, Jacqueline A. Odgis, Sabrina A. Suckiel, Katherine E. Bonini, Miranda Di Biase, Kaitlyn Brown, Priya Marathe, Nicole R. Kelly, Michelle A. Ramos, Jessica E. Rodriguez, Karla López Aguiñiga, Jessenia Lopez, Estefany Maria, Michelle A. Rodriguez, Nicole M. Yelton, Charlotte Cunningham-Rundles, Katie Gallagher, Thomas V. McDonald, Patricia E. McGoldrick, Mimsie Robinson, Arye Rubinstein, Lisa H. Shulman, Steven M. Wolf, Elissa Yozawitz, Randi E. Zinberg, Noura S. Abul-Husn, Laurie J. Bauman, George A. Diaz, Bart S. Ferket, John M. Greally, Vaidehi Jobanputra, Bruce D. Gelb, Carol R. Horowitz, Eimear E. Kenny, Melissa P. Wasserstein

    Diterbitkan 2023-03-01
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  15. 15
    Correction to: The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children

    Correction to: The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children oleh Jacqueline A. Odgis, Katie M. Gallagher, Sabrina A. Suckiel, Katherine E. Donohue, Michelle A. Ramos, Nicole R. Kelly, Gabrielle Bertier, Christina Blackburn, Kaitlyn Brown, Lena Fielding, Jessenia Lopez, Karla Lopez Aguiniga, Estefany Maria, Jessica E. Rodriguez, Monisha Sebastin, Nehama Teitelman, Dana Watnick, Nicole M. Yelton, Avinash Abhyankar, Noura S. Abul-Husn, Aaron Baum, Laurie J. Bauman, Jules C. Beal, Toby Bloom, Charlotte Cunningham-Rundles, George A. Diaz, Siobhan Dolan, Bart S. Ferket, Vaidehi Jobanputra, Patricia Kovatch, Thomas V. McDonald, Patricia E. McGoldrick, Rosamond Rhodes, Michael L. Rinke, Mimsie Robinson, Arye Rubinstein, Lisa H. Shulman, Christian Stolte, Steven M. Wolf, Elissa Yozawitz, Randi E. Zinberg, John M. Greally, Bruce D. Gelb, Carol R. Horowitz, Melissa P. Wasserstein, Eimear E. Kenny

    Diterbitkan 2021-02-01
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  16. 16
    The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children

    The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children oleh Jacqueline A. Odgis, Katie M. Gallagher, Sabrina A. Suckiel, Katherine E. Donohue, Michelle A. Ramos, Nicole R. Kelly, Gabrielle Bertier, Christina Blackburn, Kaitlyn Brown, Lena Fielding, Jessenia Lopez, Karla Lopez Aguiniga, Estefany Maria, Jessica E. Rodriguez, Monisha Sebastin, Nehama Teitelman, Dana Watnick, Nicole M. Yelton, Avinash Abhyankar, Noura S. Abul-Husn, Aaron Baum, Laurie J. Bauman, Jules C. Beal, Toby Bloom, Charlotte Cunningham-Rundles, George A. Diaz, Siobhan Dolan, Bart S. Ferket, Vaidehi Jobanputra, Patricia Kovatch, Thomas V. McDonald, Patricia E. McGoldrick, Rosamond Rhodes, Michael L. Rinke, Mimsie Robinson, Arye Rubinstein, Lisa H. Shulman, Christian Stolte, Steven M. Wolf, Elissa Yozawitz, Randi E. Zinberg, John M. Greally, Bruce D. Gelb, Carol R. Horowitz, Melissa P. Wasserstein, Eimear E. Kenny

    Diterbitkan 2021-01-01
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