Hasil Pencarian - Sandesh C.S. Nagamani

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  1. 1
    A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing

    A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing oleh Runjun D. Kumar, Lindsay C. Burrage, Jan Bartos, Saima Ali, Eric Schmitt, Sandesh C.S. Nagamani, Cynthia LeMons

    Diterbitkan 2021-03-01
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  2. 2
    Argininosuccinate lyase deficiency causes blood-brain barrier disruption via nitric oxide–mediated dysregulation of claudin expression

    Argininosuccinate lyase deficiency causes blood-brain barrier disruption via nitric oxide–mediated dysregulation of claudin expression oleh Jordan Kho, Urszula Polak, Ming-Ming Jiang, John D. Odom, Jill V. Hunter, Saima M. Ali, Lindsay C. Burrage, Sandesh C.S. Nagamani, Robia G. Pautler, Hannah P. Thompson, Akihiko Urayama, Zixue Jin, Brendan Lee

    Diterbitkan 2023-09-01
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  3. 3
    A Multicenter Study of Intramedullary Rodding in Osteogenesis Imperfecta

    A Multicenter Study of Intramedullary Rodding in Osteogenesis Imperfecta oleh Mercedes Rodriguez Celin, MD, Karen M. Kruger, PhD, Angela Caudill, PT, MPT, Sandesh C.S. Nagamani, MD, Brittle Bone Disorders Consortium (BBDC), Linked Clinical Research Centers (LCRC), Gerald F. Harris, PhD, PE, Peter A. Smith, MD

    Diterbitkan 2020-09-01
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  4. 4
    Early prediction of phenotypic severity in Citrullinemia Type 1

    Early prediction of phenotypic severity in Citrullinemia Type 1 oleh Matthias Zielonka, Stefan Kölker, Florian Gleich, Nicolas Stützenberger, Sandesh C. S. Nagamani, Andrea L. Gropman, Georg F. Hoffmann, Sven F. Garbade, Roland Posset, the Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E‐IMD) Consortia Study Group

    Diterbitkan 2019-09-01
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  5. 5
    Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency

    Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency oleh Svenja Scharre, Roland Posset, Sven F. Garbade, Florian Gleich, Marie J. Seidl, Ann‐Catrin Druck, Jürgen G. Okun, Andrea L. Gropman, Sandesh C. S. Nagamani, Georg F. Hoffmann, Stefan Kölker, Matthias Zielonka, for the Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E‐IMD) Consortia Study Group

    Diterbitkan 2022-11-01
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  6. 6
    Targeting TGF-β for treatment of osteogenesis imperfecta

    Targeting TGF-β for treatment of osteogenesis imperfecta oleh I-Wen Song, Sandesh C.S. Nagamani, Dianne Nguyen, Ingo Grafe, Vernon Reid Sutton, Francis H. Gannon, Elda Munivez, Ming-Ming Jiang, Alyssa Tran, Maegen Wallace, Paul Esposito, Salma Musaad, Elizabeth Strudthoff, Sharon McGuire, Michele Thornton, Vinitha Shenava, Scott Rosenfeld, Shixia Huang, Roman Shypailo, Eric Orwoll, Brendan Lee

    Diterbitkan 2022-04-01
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  7. 7
    ASL Metabolically Regulates Tyrosine Hydroxylase in the Nucleus Locus Coeruleus

    ASL Metabolically Regulates Tyrosine Hydroxylase in the Nucleus Locus Coeruleus oleh Shaul Lerner, Elmira Anderzhanova, Sima Verbitsky, Raya Eilam, Yael Kuperman, Michael Tsoory, Yuri Kuznetsov, Alexander Brandis, Tevie Mehlman, Ram Mazkereth, Robert McCarter, Menahem Segal, Sandesh C.S. Nagamani, Alon Chen, Ayelet Erez, Fabienne Dietrich Alber, Talin Babikian, Heidi Bender, Christopher Boys, David Breiger, Corinna Buerger, Peter Burgard, Mina Nguyen-Driver, Benjamin Goodlett, Elizabeth Kerr, Casey Krueger, Eva Mamak, Jacqueline H. Sanz, David Schwartz, Susan Caudle, Arianna Stefanos, Rachel Tangen, Magdalena Walter, Susan Waisbren, Greta Wilkening

    Diterbitkan 2019-11-01
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  8. 8
    BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes

    BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes oleh Erfan Aref-Eshghi, Eric G. Bend, Rebecca L. Hood, Laila C. Schenkel, Deanna Alexis Carere, Rana Chakrabarti, Sandesh C. S. Nagamani, Sau Wai Cheung, Philippe M. Campeau, Chitra Prasad, Victoria Mok Siu, Lauren Brady, Mark A. Tarnopolsky, David J. Callen, A. Micheil Innes, Susan M. White, Wendy S. Meschino, Andrew Y. Shuen, Guillaume Paré, Dennis E. Bulman, Peter J. Ainsworth, Hanxin Lin, David I. Rodenhiser, Raoul C. Hennekam, Kym M. Boycott, Charles E. Schwartz, Bekim Sadikovic

    Diterbitkan 2018-11-01
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  9. 9
    Identification of novel candidate disease genes from de novo exonic copy number variants

    Identification of novel candidate disease genes from de novo exonic copy number variants oleh Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A. Rosenfeld, Zeynep Coban-Akdemir, Amber N. Pursley, Sandesh C. S. Nagamani, Ronit Marom, Sailaja Golla, Lauren Dengle, Heather G. Petrie, Reuben Matalon, Lisa Emrick, Monica B. Proud, Diane Treadwell-Deering, Hsiao-Tuan Chao, Hannele Koillinen, Chester Brown, Nora Urraca, Roya Mostafavi, Saunder Bernes, Elizabeth R. Roeder, Kimberly M. Nugent, Patricia I. Bader, Gary Bellus, Michael Cummings, Hope Northrup, Myla Ashfaq, Rachel Westman, Robert Wildin, Anita E. Beck, LaDonna Immken, Lindsay Elton, Shaun Varghese, Edward Buchanan, Laurence Faivre, Mathilde Lefebvre, Christian P. Schaaf, Magdalena Walkiewicz, Yaping Yang, Sung-Hae L. Kang, Seema R. Lalani, Carlos A. Bacino, Arthur L. Beaudet, Amy M. Breman, Janice L. Smith, Sau Wai Cheung, James R. Lupski, Ankita Patel, Chad A. Shaw, Paweł Stankiewicz

    Diterbitkan 2017-09-01
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