Výsledky vyhledávání - Arbuckle, Susan

Pullthrough Operation for Hirschsprung's Disease: Importance of a Circumferential (Donut) Biopsy at the Level of the Anastomosis Autor Jehangir, Susan, Soundappan, Soundappan Venkatraman Sannappa, Krivanek, Micheal, Arbuckle, Susan, Graf, Nicole

Získat plný text Získat plný text Získat plný text

Placental inflammation is associated with rural and remote residence in the Northern Territory, Australia: a cross-sectional study Autor O’Brien, Cecelia M, Arbuckle, Susan, Thomas, Sujatha, Rode, Jurgen, Turner, Robin, Jeffery, Heather E

Získat plný text Získat plný text Získat plný text

A method for developing standardised interactive education for complex clinical guidelines Autor Vaughan, Janet I, Jeffery, Heather E, Raynes-Greenow, Camille, Gordon, Adrienne, Hirst, Jane, Hill, David A, Arbuckle, Susan

Získat plný text Získat plný text Získat plný text

Cirrhosis Associated with Pyridoxal 5′-Phosphate Treatment of Pyridoxamine 5′-Phosphate Oxidase Deficiency Autor Sudarsanam, Annapurna, Singh, Harry, Wilcken, Bridget, Stormon, Michael, Arbuckle, Susan, Schmitt, Bernhard, Clayton, Peter, Earl, John, Webster, Richard

Získat plný text Získat plný text Získat plný text

Human Cytomegalovirus-Induces Cytokine Changes in the Placenta with Implications for Adverse Pregnancy Outcomes Autor Hamilton, Stuart T., Scott, Gillian, Naing, Zin, Iwasenko, Jenna, Hall, Beverley, Graf, Nicole, Arbuckle, Susan, Craig, Maria E., Rawlinson, William D.

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients Autor Waddell, Leigh B., Tran, Jenny, Zheng, Xi F., Bönnemann, Carsten G., Hu, Ying, Evesson, Frances J., Lek, Monkol, Arbuckle, Susan, Wang, Min-Xia, Smith, Robert L., North, Kathryn N., Clarke, Nigel F.

Získat plný text Získat plný text Získat plný text

LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure Autor Riley, Lisa G., Rudinger-Thirion, Joëlle, Schmitz-Abe, Klaus, Thorburn, David R., Davis, Ryan L., Teo, Juliana, Arbuckle, Susan, Cooper, Sandra T., Campagna, Dean R., Frugier, Magali, Markianos, Kyriacos, Sue, Carolyn M., Fleming, Mark D., Christodoulou, John

Získat plný text Získat plný text Získat plný text

Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly Autor Bryen, Samantha J., Joshi, Himanshu, Evesson, Frances J., Girard, Cyrille, Ghaoui, Roula, Waddell, Leigh B., Testa, Alison C., Cummings, Beryl, Arbuckle, Susan, Graf, Nicole, Webster, Richard, MacArthur, Daniel G., Laing, Nigel G., Davis, Mark R., Lührmann, Reinhard, Cooper, Sandra T.

Získat plný text Získat plný text Získat plný text

Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita Autor Ravenscroft, Gianina, Nolent, Flora, Rajagopalan, Sulekha, Meireles, Ana M., Paavola, Kevin J., Gaillard, Dominique, Alanio, Elisabeth, Buckland, Michael, Arbuckle, Susan, Krivanek, Michael, Maluenda, Jérome, Pannell, Stephen, Gooding, Rebecca, Ong, Royston W., Allcock, Richard J., Carvalho, Ellaine D.F., Carvalho, Maria D.F., Kok, Fernando, Talbot, William S., Melki, Judith, Laing, Nigel G.

Získat plný text Získat plný text Získat plný text

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... Autor 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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

DGKE Variants Cause a Glomerular Microangiopathy That Mimics Membranoproliferative GN Autor Ozaltin, Fatih, Li, Binghua, Rauhauser, Alysha, An, Sung-Wan, Soylemezoglu, Oguz, Gonul, Ipek Isik, Taskiran, Ekim Z., Ibsirlioglu, Tulin, Korkmaz, Emine, Bilginer, Yelda, Duzova, Ali, Ozen, Seza, Topaloglu, Rezan, Besbas, Nesrin, Ashraf, Shazia, Du, Yong, Liang, Chaoying, Chen, Phylip, Lu, Dongmei, Vadnagara, Komal, Arbuckle, Susan, Lewis, Deborah, Wakeland, Benjamin, Quigg, Richard J., Ransom, Richard F., Wakeland, Edward K., Topham, Matthew K., Bazan, Nicolas G., Mohan, Chandra, Hildebrandt, Friedhelm, Bakkaloglu, Aysin, Huang, Chou-Long, Attanasio, Massimo

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus Autor Frazier, Ann E., Compton, Alison G., Kishita, Yoshihito, Hock, Daniella H., Welch, AnneMarie E., Amarasekera, Sumudu S.C., Rius, Rocio, Formosa, Luke E., Imai-Okazaki, Atsuko, Francis, David, Wang, Min, Lake, Nicole J., Tregoning, Simone, Jabbari, Jafar S., Lucattini, Alexis, Nitta, Kazuhiro R., Ohtake, Akira, Murayama, Kei, Amor, David J., McGillivray, George, Wong, Flora Y., van der Knaap, Marjo S., Jeroen Vermeulen, R., Wiltshire, Esko J., Fletcher, Janice M., Lewis, Barry, Baynam, Gareth, Ellaway, Carolyn, Balasubramaniam, Shanti, Bhattacharya, Kaustuv, Freckmann, Mary-Louise, Arbuckle, Susan, Rodriguez, Michael, Taft, Ryan J., Sadedin, Simon, Cowley, Mark J., Minoche, André E., Calvo, Sarah E., Mootha, Vamsi K., Ryan, Michael T., Okazaki, Yasushi, Stroud, David A., Simons, Cas, Christodoulou, John, Thorburn, David R.

Získat plný text Získat plný text Získat plný text

Pathogenetics of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins Autor Szafranski, Przemyslaw, Gambin, Tomasz, Dharmadhikari, Avinash V., Akdemir, Kadir Caner, Jhangiani, Shalini N., Schuette, Jennifer, Godiwala, Nihal, Yatsenko, Svetlana A., Sebastian, Jessica, Madan-Khetarpal, Suneeta, Surti, Urvashi, Abellar, Rosanna G., Bateman, David A., Wilson, Ashley L., Markham, Melinda H., Slamon, Jill, Santos-Simarro, Fernando, Palomares, María, Nevado, Julián, Lapunzina, Pablo, Hon-Yin, Brian Chung, Wai-Lap, Wong, Chu, Yoyo Wing Yiu, Mok, Gary Tsz Kin, Eitan, Kerem, Reiter, Joel, Ambalavanan, Namasivayam, Anderson, Scott A., Kelly, David R., Shieh, Joseph, Rosenthal, Taryn C., Scheible, Kristin, Steiner, Laurie, Iqbal, M. Anwar, McKinnon, Margaret, Hamilton, Sara Jane, Schlade-Bartusiak, Kamilla, English, Dawn, Hendson, Glenda, Roeder, Elizabeth R., DeNapoli, Thomas S., Littlejohn, Rebecca Okashah, Wolff, Daynna J., Wagner, Carol L., Yeung, Alison, Francis, David, Fiorino, Elizabeth K., Edelman, Morris, Fox, Joyce, Hayes, Denise A., Janssens, Sandra, De Baere, Elfride, Menten, Bjorn, Loccufier, Anne, Van Walleghem, Lieve, Moerman, Philippe, Sznajer, Yves, Lay, Amy S., Kussmann, Jennifer L., Chawla, Jasneek, Payton, Diane J., Phillips, Gael E., Brosens, Erwin, Tibboel, Dick, de Klein, Annelies, Maystadt, Isabelle, Fisher, Richard, Sebire, Neil, Male, Alison, Chopra, Maya, Pinner, Jason, Malcolm, Girvan, Peters, Gregory, Arbuckle, Susan, Lees, Melissa, Mead, Zoe, Quarrell, Oliver, Sayers, Richard, Owens, Martina, Shaw-Smith, Charles, Lioy, Janet, McKay, Eileen, de Leeuw, Nicole, Feenstra, Ilse, Spruijt, Liesbeth, Elmslie, Frances, Thiruchelvam, Timothy, Bacino, Carlos A., Langston, Claire, Lupski, James R., Sen, Partha, Popek, Edwina, Stankiewicz, Paweł

Získat plný text Získat plný text Získat plný text