A Novel V185DfsX4 Mutation of the AAAS Gene in a 2-year-old Boy with Triple A Syndrome

Por Huynh, Tony, Mcgown, Ivan, Nyunt, Ohn, Cowley, David, Harris, Mark, Cotterill, Andrew M, Leong, Gary M
Publicado em 2009

The Clinical and Biochemical Spectrum of Congenital Adrenal Hyperplasia Secondary to 21-Hydroxylase Deficiency

Por Huynh, Tony, McGown, Ivan, Cowley, David, Nyunt, Ohn, Leong, Gary M, Harris, Mark, Cotterill, Andrew M
Publicado em 2009

Investigating Maturity Onset Diabetes of the Young

Por Nyunt, Ohn, Wu, Joyce Y, McGown, Ivan N, Harris, Mark, Huynh, Tony, Leong, Gary M, Cowley, David M, Cotterill, Andrew M
Publicado em 2009

Environmental determinants of islet autoimmunity (ENDIA): a pregnancy to early life cohort study in children at-risk of type 1 diabetes

Por Penno, Megan AS, Couper, Jennifer J, Craig, Maria E, Colman, Peter G, Rawlinson, William D, Cotterill, Andrew M, Jones, Timothy W, Harrison, Leonard C
Publicado em 2013

A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development

Por Wu, Joyce Y, McGown, Ivan N, Lin, Lin, Achermann, John C, Harris, Mark, Cowley, David M, Aftimos, Salim, Neville, Kristen A, Choong, Catherine S, Cotterill, Andrew M
Publicado em 2013

Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus

Por Trivellin, Giampaolo, Sharwood, Erin, Hijazi, Hadia, Carvalho, Claudia M B, Yuan, Bo, Tatton-Brown, Katrina, Coman, David, Lupski, James R, Cotterill, Andrew M, Lodish, Maya B, Stratakis, Constantine A
Publicado no J Endocr Soc (2018)

Distinct Gut Virome Profile of Pregnant Women With Type 1 Diabetes in the ENDIA Study

Por Wook Kim, Ki, Allen, Digby W, Briese, Thomas, Couper, Jennifer J, Barry, Simon C, Colman, Peter G, Cotterill, Andrew M, Davis, Elizabeth A, Giles, Lynne C, Harrison, Leonard C, Harris, Mark, Haynes, Aveni, Horton, Jessica L, Isaacs, Sonia R, Jain, Komal, Lipkin, Walter Ian, Morahan, Grant, Morbey, Claire, Pang, Ignatius C N, Papenfuss, Anthony T, Penno, Megan A S, Sinnott, Richard O, Soldatos, Georgia, Thomson, Rebecca L, Vuillermin, Peter J, Wentworth, John M, Wilkins, Marc R, Rawlinson, William D, Craig, Maria E
Publicado no Open Forum Infect Dis (2019)