Hasil Pencarian - Donald Basel

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  1. 1
    What the pediatric endocrinologist needs to know about skeletal dysplasia, a primer

    What the pediatric endocrinologist needs to know about skeletal dysplasia, a primer oleh Janet M. Legare, Donald Basel

    Diterbitkan 2023-08-01
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  2. 2
    A novel termination site in a case of Stüve–Wiedemann syndrome: case report and review of literature

    A novel termination site in a case of Stüve–Wiedemann syndrome: case report and review of literature oleh Deepali Bhalla, Sunil Sati, Donald Basel, Vijender Karody

    Diterbitkan 2024-04-01
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  3. 3
    Computational structural genomics and clinical evidence suggest BCKDK gain‐of‐function may cause a potentially asymptomatic maple syrup urine disease phenotype

    Computational structural genomics and clinical evidence suggest BCKDK gain‐of‐function may cause a potentially asymptomatic maple syrup urine disease phenotype oleh Emily Singh, Young‐In Chi, Jessica Kopesky, Michael Zimmerman, Raul Urrutia, Donald Basel, Jessica Scott Schwoerer

    Diterbitkan 2024-05-01
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  4. 4
    P572: Detecting short tandem repeat expansions: Three-year experience with clinical whole genome sequencing (cWGS) for a rare and undiagnosed population

    P572: Detecting short tandem repeat expansions: Three-year experience with clinical whole genome sequencing (cWGS) for a rare and undiagnosed population oleh Brittany Thomas, Akanchha Kesari, Aime Lumaka, Mario Cornejo-Olivas, David Ward, Parul Jayakar, Donald Basel, Marilyn Jones, Erin Thorpe, Denise Perry, Ryan Taft

    Diterbitkan 2023-01-01
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  5. 5
    Structural and Dynamic Analyses of Pathogenic Variants in <i>PIK3R1</i> Reveal a Shared Mechanism Associated among Cancer, Undergrowth, and Overgrowth Syndromes

    Structural and Dynamic Analyses of Pathogenic Variants in <i>PIK3R1</i> Reveal a Shared Mechanism Associated among Cancer, Undergrowth, and Overgrowth Syndromes oleh Nikita R. Dsouza, Catherine E. Cottrell, Olivia M. T. Davies, Megha M. Tollefson, Ilona J. Frieden, Donald Basel, Raul Urrutia, Beth A. Drolet, Michael T. Zimmermann

    Diterbitkan 2024-02-01
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  6. 6
    Adaptive Behavior in Young Children with Neurofibromatosis Type 1

    Adaptive Behavior in Young Children with Neurofibromatosis Type 1 oleh Bonita P. Klein-Tasman, Alina M. Colon, Natalie Brei, Faye van der Fluit, Christina L. Casnar, Kelly M. Janke, Donald Basel, Dawn H. Siegel, Jasmine A. Walker

    Diterbitkan 2013-01-01
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  7. 7
    Reduction in ACE2 expression in peripheral blood mononuclear cells during COVID-19 – implications for post COVID-19 conditions

    Reduction in ACE2 expression in peripheral blood mononuclear cells during COVID-19 – implications for post COVID-19 conditions oleh Gulrayz Ahmed, Yasir Abdelgadir, Amro Abdelghani, Pippa Simpson, Jody Barbeau, Donald Basel, Christy S. Barrios, Brandon A Smith, Kala F Schilter, Rupa Udani, Honey V. Reddi, Rodney E. Willoughby

    Diterbitkan 2024-07-01
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  8. 8
    P131: Persistence of growth-promoting effects in infants and toddlers with achondroplasia: Results from a phase II extension study with vosoritide*

    P131: Persistence of growth-promoting effects in infants and toddlers with achondroplasia: Results from a phase II extension study with vosoritide* oleh Ravi Savarirayan, William Wilcox, Paul Harmatz, John Phillips, III, Lynda Polgreen, Louise Tofts, Keiichi Ozono, Paul Arundel, Melita Irving, Carlos Bacino, Donald Basel, Ricki Carroll, Joel Charrow, Hiroshi Mochizuki, Yumiko Kotani, Howard Saal, Lingling Han, Andrea Low, Elena Fisheleva, Jonathan Day

    Diterbitkan 2024-01-01
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  9. 9
    O22: A randomized controlled trial of vosoritide in infants and toddlers with achondroplasia*

    O22: A randomized controlled trial of vosoritide in infants and toddlers with achondroplasia* oleh Carlos Bacino, Ravi Savarirayan, William Wilcox, Paul Harmatz, John Phillips, Lynda Polgreen, Louise Tofts, Keiichi Ozono, Paul Arundel, Melita Irving, Donald Basel, Michael Bober, Joel Charrow, Hiroshi Mochizuki, Yumiko Kotani, Howard Saal, George Jeha, Lynn Han, Elena Fisheleva, Alice Huntsman-Labed, Jonathan Day

    Diterbitkan 2023-01-01
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  10. 10
    P193: Persistent growth-promoting effects of vosoritide in children with achondroplasia for up to 3.5 years: Update from phase 3 extension study*

    P193: Persistent growth-promoting effects of vosoritide in children with achondroplasia for up to 3.5 years: Update from phase 3 extension study* oleh Julie Hoover-Fong, Ravi Savarirayan, Louise Tofts, Melita Irving, William Wilcox, Carlos Bacino, Rosendo Ullot Font, Paul Harmatz, Frank Rutsch, Michael Bober, Lynda Polgreen, Ignacio Ginebreda, Klaus Mohnike, Joel Charrow, Daniel Hoernschemeyer, Keiichi Ozono, Yasemin Alanay, Paul Arundel, Shoji Kagami, Natsuo Yasui, Klane White, Howard Saal, Antonio Leiva-Gea, Felipe Luna-González, Hiroshi Mochizuki, Donald Basel, Dania Porco, Kala Jayaram, Elena Fisheleva, Sue Lawrinson, Jonathan Day

    Diterbitkan 2023-01-01
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  11. 11
    P141: Persistent growth-promoting effects of vosoritide in children with achondroplasia is accompanied by improvement in physical aspects of quality of life*

    P141: Persistent growth-promoting effects of vosoritide in children with achondroplasia is accompanied by improvement in physical aspects of quality of life* oleh Ravi Savarirayan, Louise Tofts, Melita Irving, William Wilcox, Carlos Bacino, Julie Hoover-Fong, Rosendo Ullot Font, Paul Harmatz, Frank Rutsch, Ricki Carroll, Lynda Polgreen, Ignacio Ginebreda, Klaus Mohnike, Joel Charrow, Carlos Prada, Daniel Hoernschemeyer, Keiichi Ozono, Takuo Kubota, Yasemin Alanay, Paul Arundel, Yumiko Kotani, Natsuo Yasui, Klane White, Shelley Brandstetter, Howard Saal, Antonio Leiva-Gea, Felipe Luna-González, Hiroshi Mochizuki, Asako Tajima, Donald Basel, Elena Fisheleva, Richard Rowell, Alice Huntsman Labed, Jonathan Day

    Diterbitkan 2024-01-01
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  12. 12
    P139: Persistent growth-promoting effects of vosoritide in children with achondroplasia for up to 4 years: Update from phase 3 extension study*

    P139: Persistent growth-promoting effects of vosoritide in children with achondroplasia for up to 4 years: Update from phase 3 extension study* oleh Ravi Savarirayan, Louise Tofts, Melita Irving, William Wilcox, Carlos Bacino, Julie Hoover-Fong, Rosendo Ullot Font, Paul Harmatz, Frank Rutsch, Ricki Carroll, Lynda Polgreen, Ignacio Ginebreda, Klaus Mohnike, Joel Charrow, Carlos Prada, Daniel Hoernschemeyer, Keiichi Ozono, Takuo Kubota, Yasemin Alanay, Paul Arundel, Yumiko Kotani, Natsuo Yasui, Klane White, Shelley Brandstetter, Howard Saal, Antonio Leiva-Gea, Felipe Luna-González, Hiroshi Mochizuki, Asako Tajima, Donald Basel, Elena Fisheleva, Andrea Low, Sue Lawrinson, Jonathan Day

    Diterbitkan 2024-01-01
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  13. 13
    Missense variant contribution to USP9X-female syndrome

    Missense variant contribution to USP9X-female syndrome oleh Lachlan A. Jolly, Euan Parnell, Alison E. Gardner, Mark A. Corbett, Luis A. Pérez-Jurado, Marie Shaw, Gaetan Lesca, Catherine Keegan, Michael C. Schneider, Emily Griffin, Felicitas Maier, Courtney Kiss, Andrea Guerin, Kathleen Crosby, Kenneth Rosenbaum, Pranoot Tanpaiboon, Sandra Whalen, Boris Keren, Julie McCarrier, Donald Basel, Simon Sadedin, Susan M. White, Martin B. Delatycki, Tjitske Kleefstra, Sébastien Küry, Alfredo Brusco, Elena Sukarova-Angelovska, Slavica Trajkova, Sehoun Yoon, Stephen A. Wood, Michael Piper, Peter Penzes, Jozef Gecz

    Diterbitkan 2020-12-01
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  14. 14
    O38: The impact of whole genome sequencing in a diverse global population of genetic disease patients*

    O38: The impact of whole genome sequencing in a diverse global population of genetic disease patients* oleh Ryan Taft, Erin Thorpe, John Belmont, Taylor Williams, Chad Shaw, Jason Button, Julia Ortega, Keisha Robinson, Marilyn Jones, Diane Masser-Frye, Donald Basel, Chester Brown, Keith Vaux, Aime Lumaka, Fabio Sirchia, Milagros Dueñas Roque, Mario Cornejo-Olivas, Jeny Bazalar-Montoya, Nora Urraca, Alejandra Salguero, Samuel Wiafe, Romina Foster-Bonds, Erin Royer, Michelle Gallas, Pilar Magoulas, Adeline Vanderver, Marwan Shinawi, Alan Taylor, Kristen Fishler, Duncan Henry, Daria Salyakina, Kate Gibson, Melissa Lah, Alka Malhotra, James Avecilla, Andrew Warren, Denise Perry, Max Arseneault

    Diterbitkan 2023-01-01
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