Radiation-induced pleomorphic sarcoma with rhabdomyoblastic differentiation of the lower limb following treatment of vaginal squamous cell carcinoma – A case report and review of t... von Nicholson, Anna, Jolley, Alexandra, Gowda, Raghu, Oehler, Martin K.

Volltext

Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: A case report and literature review von Mordaunt, Dylan A., Jolley, Alexandra, Balasubramaniam, Shanti, Thorburn, David R., Mountford, Hayley S., Compton, Alison G., Nicholl, Jillian, Manton, Nicholas, Clark, Damian, Bratkovic, Drago, Friend, Kathryn, Yu, Sui

Volltext

Molecular Characterization of Testicular Mesothelioma and the Role of Asbestos as a Causative Factor von Hocking, Ashleigh Jean, Thomas, Elaine May, Prabhakaran, Sarita, Jolley, Alexandra, Woods, Susan Lesley, Soeberg, Matthew J, Klebe, Sonja

Volltext

Reducing Preoperative Fasting Through Technology and Education in an Acute General Surgical Adult Cohort von Jolley, Alexandra, Jin, Wallace, Mansour, Kristy, Moore, David, Douglas, Ned, Loveday, Benjamin P.T.

Volltext

Novel protein C gene mutation in a compound heterozygote resulting in catastrophic thrombosis in early adulthood: diagnosis and long‐term treatment with subcutaneous protein C conc... von Boey, Jir P., Jolley, Alexandra, Nicholls, Catherine, Lerda, Nancy, Duncan, Elizabeth, Gallus, Alexander, Ross, David M., Sobieraj‐Teague, Magdalena

Volltext

A case report of dedifferentiated endometrioid carcinoma arising in the ovary and review of flinders medical centre’s experience with mismatch repair immunohistochemistry for scree... von Jolley, Alexandra, Brennan, Catriona, Jonavicius, Lisa, Moffat, David, Astill, David

Volltext

De novo intragenic deletion of the autism susceptibility candidate 2 (AUTS2) gene in a patient with developmental delay: A case report and literature review von Jolley, Alexandra, Corbett, Mark, McGregor, Lesley, Waters, Wendy, Brown, Susan, Nicholl, Jillian, Yu, Sui

Volltext

Intrauterine Fetal Death With Vanishing Gastroschisis and Post Mortem Examination Findings von Jolley, Alexandra Frances, Beare, Elizabeth Jane, Granger, Jeremy, Cord-Udy, Catherine Lucy, Muller, Peter, Moore, Lynette

Volltext

CASE REPORT OF INTRAUTERINE FETAL DEATH WITH VANISHING GASTROSCHISIS AND POST MORTEM EXAMINATION FINDINGS von Jolley, Alexandra Frances, Beare, Elizabeth, Granger, Jeremy, Cord-Udy, Catherine Lucy, Muller, Peter, Moore, Lynette

Volltext

Challenging array CGH case involving a duplication of exons 10–18 of the DMD gene in a boy with normal creatinine kinase levels von Jolley, Alexandra, McGregor, Lesley, Waters, Wendy, Friend, Kathie, Nicholl, Jillian, Yu, Sui

Volltext

Hereditary protein C deficiency and thrombosis: two case reports von Lerda, Nancy, Jolley, Alexandra, Byrne, Alicia, Nicholls, Catherine, Ross, David, Sobieraj-Teague, Magdalena, Rodgers, Susan, McRae, Simon, Scott, Hamish

Volltext

Microarray is a valuable tool in investigation of fetal autopsy cases with at least one malformation von Jolley, Alexandra, Nicholl, Jillian, Khong, Yee, Manton, Nick, Lipsett, Jill, Waters, Wendy, Fletcher, Janice, Moore, Lynette, Barnett, Christopher, Yu, Sui

Volltext

Radiation-induced pleomorphic sarcoma with rhabdomyoblastic differentiation of the lower limb following treatment of vaginal squamous cell carcinoma - A case report and review of t... von Nicholson, Anna, Jolley, Alexandra, Gowda, Raghu, Oehler, Martin K

Volltext

Novel protein C gene mutation in a compound heterozygote resulting in catastrophic thrombosis in early adulthood: diagnosis and long-term treatment with subcutaneous protein C conc... von Boey, Jir P, Jolley, Alexandra, Nicholls, Catherine, Lerda, Nancy, Duncan, Elizabeth, Gallus, Alexander, Ross, David M, Sobieraj-Teague, Magdalena

Volltext

Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis von Sparks, Teresa N, Lianoglou, Billie R, Adami, Rebecca R, Pluym, Ilina D, Holliman, Kerry, Duffy, Jennifer, Downum, Sarah L, Patel, Sachi, Faubel, Amanda, Boe, Nina M, Field, Nancy T, Murphy, Aisling, Laurent, Louise C, Jolley, Jennifer, Uy, Cherry, Slavotinek, Anne M, Devine, Patrick, Hodoglugil, Ugur, Van Ziffle, Jessica, Sanders, Stephan J, MacKenzie, Tippi C, Norton, Mary E

Volltext

A Whole-Genome-Based Gene-by-Gene Typing System for Standardized High-Resolution Strain Typing of Bacillus anthracis von Abdel-Glil, Mostafa Y., Chiaverini, Alexandra, Garofolo, Giuliano, Fasanella, Antonio, Parisi, Antonio, Harmsen, Dag, Jolley, Keith A., Elschner, Mandy C., Tomaso, Herbert, Linde, Jorg, Galante, Domenico

Volltext

Early posthospitalization recovery after extracorporeal membrane oxygenation in survivors of COVID-19 von Taylor, Lauren J., Jolley, Sarah E., Ramani, Chintan, Mayer, Kirby P., Etchill, Eric W., Mart, Matthew F., Fakhri, Shoaib, Peterson, Skyler, Colborn, Kathryn, Sevin, Carla M., Kadl, Alexandra, Enfield, Kyle, Whitman, Glenn J.R., Zwischenberger, Joseph B., Rove, Jessica Y., Montgomery-Yates, Ashley A., Parker, Ann M., Teman, Nicholas R., Hoffman, Jordan, Bartels, Karsten, Kim, Bo Soo, Cho, Sung-Min, Hippensteel, Joseph A.

Volltext

Erratum: Development and implementation of a Core Genome Multilocus Sequence Typing (cgMLST) scheme for Haemophilus influenzae von Krisna, Made Ananda, Jolley, Keith A, Monteith, William, Boubour, Alexandra, Hamers, Raph L, Brueggemann, Angela B, Harrison, Odile B, Maiden, Martin C J

Volltext

Development and implementation of a core genome multilocus sequence typing scheme for Haemophilus influenzae von Krisna, Made Ananda, Jolley, Keith A, Monteith, William, Boubour, Alexandra, Hamers, Raph L, Brueggemann, Angela B, Harrison, Odile B, Maiden, Martin C J

Volltext

Common variants near MC4R are associated with fat mass, weight and risk of obesity von Day, Ian, Dermitzakis, Emmanouil T, Randall, Joshua C, Weedon, Michael N, Hinney, Anke, Evans, David M, Qi, Lu, Bennett, Amanda J, Munroe, Patricia B, Herrera, Blanca, Johnson, Toby, Elliott, Katherine S, Song, Kijoung, Zeggini, Eleftheria, Cauchi, Stéphane, Teichmann, Sarah A, Lindgren, Cecilia M, Brown, Morris, Sims, Matthew A, Karpe, Fredrik, O'Rahilly, Stephen, Hattersley, Andrew T, Scherag, André, Samani, Nilesh J, Keniry, Andrew, Li, Shengxu, Beckmann, Jacques S, Cooper, Cyrus, Caulfield, Mark J, Owen, Katharine R, Luben, Robert N, McGinnis, Ralph, Ghori, Jilur, Ness, Andrew R, Bochud, Murielle, Jarvelin, Marjo-Riitta, Hebebrand, Johannes, Ong, Ken K, Freathy, Rachel M, McArdle, Wendy L, Potter, Simon, Wareham, Nicholas J, Ganz Vogel, Carla I, Mooser, Vincent, Barroso, Inês, Deloukas, Panos, Waterworth, Dawn M, Bergmann, Sven, Elliott, Paul, Gwilliam, Rhian, Tobias, Jonathan H, Jolley, Jennifer D M, Morris, Andrew D, Loos, Ruth J F, Yuan, Xin, Smith, George Davey, Palmer, Colin N A, Groves, Christopher J, Dina, Christian, Syddall, Holly E, Waeber, Gerard, Zhao, Jing Hua, Sandhu, Manjinder S, Doney, Alex S F, Hunt, Sarah E, Pouta, Anneli, Speliotes, Elizabeth K, Connell, John M, Timpson, Nicholas J, Wallace, Chris, Attwood, Antony P, Hall, Alistair S, Khaw, Kay-Tee, Meyre, David, Vollenweider, Peter, Bingham, Sheila A, Berndt, Sonja I, Hadley, David, Rayner, Nigel W, Frayling, Timothy M, Sadaf Farooqi, I, Hirschhorn, Joel N, Strachan, David P, Inouye, Michael, Papadakis, Konstantinos, Ring, Susan M, Wraight, Vicki L, Willer, Cristen J, Marchini, Jonathan, Uda, Manuela, Nica, Alexandra C, Mangino, Massimo, Soranzo, Nicole, McCarthy, Mark I, De, Subhajyoti, Neville, Matthew J, Prokopenko, Inga, Wheeler, Eleanor, Heid, Iris M, Froguel, Philippe

Volltext