Items where Author is "Chong, Karen"

Szot, Justin O. and Cuny, Hartmut and Martin, Ella M.M.A. and Sheng, Delicia Z. and Iyer, Kavitha and Portelli, Stephanie and Nguyen, Vivien and Gereis, Jessica M. and Alankarage, Dimuthu and Chitayat, David and Chong, Karen and Wentzensen, Ingrid M. and Vincent-Delormé, Catherine and Lermine, Alban and Burkitt-Wright, Emma and Ji, Weizhen and Jeffries, Lauren and Pais, Lynn S. and Tan, Tiong Y. and Pitt, James and Wise, Cheryl A. and Wright, Helen and Andrews, Israel D. and Pruniski, Brianna and Grebe, Theresa A. and Corsten-Janssen, Nicole and Bouman, Katelijne and Poulton, Cathryn and Prakash, Supraja and Keren, Boris and Brown, Natasha J. and Hunter, Matthew F. and Heath, Oliver and Lakhani, Saquib A. and McDermott, John H. and Ascher, David B. and Chapman, Gavin and Bozon, Kayleigh and Dunwoodie, Sally L. (2024) A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder. Journal of Clinical Investigation, 134 (4). ISSN 1558-8238

Szot, Justin O. and Slavotinek, Anne and Chong, Karen and Brandau, Oliver and Nezarati, Marjan and Cueto‐González, Anna M. and Patel, Millan S. and Devine, Walter P. and Rego, Shannon and Acyinena, Alicia P. and Shannon, Patrick and Myles‐Reid, Diane and Blaser, Susan and Mieghem, Tim V. and Yavuz‐Kienle, Halenur and Skladny, Heyko and Miller, Kristen and Riera, Miereia D. T. and Martínez, Silvia A. and Tizzano, Eduardo F. and Dupuis, Lucie and James Stavropoulos, Dimitri and McNiven, Vanda and Mendoza‐Londono, Roberto and Elliott, Alison M. and Phillips, Robert S. and Chapman, Gavin and Dunwoodie, Sally L. (2021) New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder. Human Mutation, 42 (7). pp.862-876. ISSN 1059-7794