Diagnosis of fetal growth restriction in perinatal deaths using brain to liver weight ratios

por Stephens, Alexandre S., Bentley, Jason P., Taylor, Lee K., Arbuckle, Susan M.
Publicado 2015

Pullthrough Operation for Hirschsprung's Disease: Importance of a Circumferential (Donut) Biopsy at the Level of the Anastomosis

por Jehangir, Susan, Soundappan, Soundappan Venkatraman Sannappa, Krivanek, Micheal, Arbuckle, Susan, Graf, Nicole
Publicado 2019

Placental inflammation is associated with rural and remote residence in the Northern Territory, Australia: a cross-sectional study

por O’Brien, Cecelia M, Arbuckle, Susan, Thomas, Sujatha, Rode, Jurgen, Turner, Robin, Jeffery, Heather E
Publicado 2015

Severe Postnatal Cytomegalovirus Enterocolitis in Immunocompetent Term Infants Requiring Total Parenteral Nutrition

por Howard-Jones, Annaleise R., Cristerna-Tarrasa, Giancarlo H., Khan, Rabia, Stormon, Michael, Arbuckle, Susan, Britton, Philip N.
Publicado 2021

A method for developing standardised interactive education for complex clinical guidelines

por Vaughan, Janet I, Jeffery, Heather E, Raynes-Greenow, Camille, Gordon, Adrienne, Hirst, Jane, Hill, David A, Arbuckle, Susan
Publicado 2012

Human Cytomegalovirus-Induces Cytokine Changes in the Placenta with Implications for Adverse Pregnancy Outcomes

por Hamilton, Stuart T., Scott, Gillian, Naing, Zin, Iwasenko, Jenna, Hall, Beverley, Graf, Nicole, Arbuckle, Susan, Craig, Maria E., Rawlinson, William D.
Publicado 2012

Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant

por Yuen, Michaela, Worgan, Lisa, Iwanski, Jessika, Pappas, Christopher T., Joshi, Himanshu, Churko, Jared M., Arbuckle, Susan, Kirk, Edwin P., Zhu, Ying, Roscioli, Tony, Gregorio, Carol C., Cooper, Sandra T.
Publicado 2022

Evaluation of an international educational programme for health care professionals on best practice in the management of a perinatal death: IMproving Perinatal mortality Review and...

por Gardiner, Paul A., Kent, Alison L., Rodriguez, Viviana, Wojcieszek, Aleena M., Ellwood, David, Gordon, Adrienne, Wilson, Patricia A., Bond, Diana M., Charles, Adrian, Arbuckle, Susan, Gardener, Glenn J., Oats, Jeremy J., Erwich, Jan Jaap, Korteweg, Fleurisca J., Duc, T. H. Nguyen, Leisher, Susannah Hopkins, Kishore, Kamal, Silver, Robert M., Heazell, Alexander E., Storey, Claire, Flenady, Vicki
Publicado 2016

Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder

por Szafranski, Przemyslaw, Dharmadhikari, Avinash V., Brosens, Erwin, Gurha, Priyatansh, Kołodziejska, Katarzyna E., Zhishuo, Ou, Dittwald, Piotr, Majewski, Tadeusz, Mohan, K. Naga, Chen, Bo, Person, Richard E., Tibboel, Dick, de Klein, Annelies, Pinner, Jason, Chopra, Maya, Malcolm, Girvan, Peters, Gregory, Arbuckle, Susan, Guiang, Sixto F., Hustead, Virginia A., Jessurun, Jose, Hirsch, Russel, Witte, David P., Maystadt, Isabelle, Sebire, Neil, Fisher, Richard, Langston, Claire, Sen, Partha, Stankiewicz, Paweł
Publicado 2013

WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase

por Waddell, Leigh B., Bryen, Samantha J., Cummings, Beryl B., Bournazos, Adam, Evesson, Frances J., Joshi, Himanshu, Marshall, Jamie L., Tukiainen, Taru, Valkanas, Elise, Weisburd, Ben, Sadedin, Simon, Davis, Mark R., Faiz, Fathimath, Gooding, Rebecca, Sandaradura, Sarah A., O'Grady, Gina L., Tchan, Michel C., Mowat, David R., Oates, Emily C., Farrar, Michelle A., Sampaio, Hugo, Ma, Alan, Neas, Katherine, Wang, Min-Xia, Charlton, Amanda, Chan, Charles, Kenwright, Diane N., Graf, Nicole, Arbuckle, Susan, Clarke, Nigel F., MacArthur, Daniel G., Jones, Kristi J., Lek, Monkol, Cooper, Sandra T.
Publicado 2021

ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder

por Williams, Lloyd B., Javed, Asif, Sabri, Amin, Morgan, Denise J., Huff, Chad D., Grigg, John R., Heng, Xiu Ting, Khng, Alexis J., Hollink, Iris H. I. M., Morrison, Margaux A., Owen, Leah A., Anderson, Katherine, Kinard, Krista, Greenlees, Rebecca, Novacic, Danica, Nida Sen, H., Zein, Wadih M., Rodgers, George M., Vitale, Albert T., Haider, Neena B., Hillmer, Axel M., Ng, Pauline C., Shankaracharya, Cheng, Anson, Zheng, Linda, Gillies, Mark C., van Slegtenhorst, Marjon, van Hagen, P. Martin, Missotten, Tom O. A. R., Farley, Gary L., Polo, Michael, Malatack, James, Curtin, Julie, Martin, Frank, Arbuckle, Susan, Alexander, Stephen I., Chircop, Megan, Davila, Sonia, Digre, Kathleen B., Jamieson, Robyn V., DeAngelis, Margaret M.
Publicado 2019