Results
|
1.
|
None [electronic resource] by
- Marum, Justine E
- Yeung, David T
- Purins, Leanne
- Reynolds, John
- Parker, Wendy T
- Stangl, Doris
- Wang, Paul P S
- Price, David J
- Tuke, Jonathan
- Schreiber, Andreas W
- Scott, Hamish S
- Hughes, Timothy P
- Branford, Susan
Publication details: Blood advances Aug 2017
In:
Blood advances vol. 1
Availability: No items available.
|
|
2.
|
Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes. [electronic resource] by
- Lim, Sze Chern
- Friemel, Martin
- Marum, Justine E
- Tucker, Elena J
- Bruno, Damien L
- Riley, Lisa G
- Christodoulou, John
- Kirk, Edwin P
- Boneh, Avihu
- DeGennaro, Christine M
- Springer, Michael
- Mootha, Vamsi K
- Rouault, Tracey A
- Leimkühler, Silke
- Thorburn, David R
- Compton, Alison G
Producer: 20140603
In:
Human molecular genetics vol. 22
Availability: No items available.
|
|
3.
|
A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis. [electronic resource] by
- Tan, Tiong Yang
- Lunke, Sebastian
- Chong, Belinda
- Phelan, Dean
- Fanjul-Fernandez, Miriam
- Marum, Justine E
- Kumar, Vanessa Siva
- Stark, Zornitza
- Yeung, Alison
- Brown, Natasha J
- Stutterd, Chloe
- Delatycki, Martin B
- Sadedin, Simon
- Martyn, Melissa
- Goranitis, Ilias
- Thorne, Natalie
- Gaff, Clara L
- White, Susan M
Producer: 20200717
In:
European journal of human genetics : EJHG vol. 27
Availability: No items available.
|
|
4.
|
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. [electronic resource] by
- Lim, Sze Chern
- Smith, Katherine R
- Stroud, David A
- Compton, Alison G
- Tucker, Elena J
- Dasvarma, Ayan
- Gandolfo, Luke C
- Marum, Justine E
- McKenzie, Matthew
- Peters, Heidi L
- Mowat, David
- Procopis, Peter G
- Wilcken, Bridget
- Christodoulou, John
- Brown, Garry K
- Ryan, Michael T
- Bahlo, Melanie
- Thorburn, David R
Producer: 20140331
In:
American journal of human genetics vol. 94
Availability: No items available.
|
|
5.
|
Meeting the challenges of implementing rapid genomic testing in acute pediatric care. [electronic resource] by
- Stark, Zornitza
- Lunke, Sebastian
- Brett, Gemma R
- Tan, Natalie B
- Stapleton, Rachel
- Kumble, Smitha
- Yeung, Alison
- Phelan, Dean G
- Chong, Belinda
- Fanjul-Fernandez, Miriam
- Marum, Justine E
- Hunter, Matthew
- Jarmolowicz, Anna
- Prawer, Yael
- Riseley, Jessica R
- Regan, Matthew
- Elliott, Justine
- Martyn, Melissa
- Best, Stephanie
- Tan, Tiong Y
- Gaff, Clara L
- White, Susan M
Producer: 20190514
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 20
Availability: No items available.
|
|
6.
|
Integrative genomic analysis reveals cancer-associated mutations at diagnosis of CML in patients with high-risk disease. [electronic resource] by
- Branford, Susan
- Wang, Paul
- Yeung, David T
- Thomson, Daniel
- Purins, Adrian
- Wadham, Carol
- Shahrin, Nur Hezrin
- Marum, Justine E
- Nataren, Nathalie
- Parker, Wendy T
- Geoghegan, Joel
- Feng, Jinghua
- Shanmuganathan, Naranie
- Mueller, Martin C
- Dietz, Christian
- Stangl, Doris
- Donaldson, Zoe
- Altamura, Haley
- Georgievski, Jasmina
- Braley, Jodi
- Brown, Anna
- Hahn, Christopher
- Walker, Ieuan
- Kim, Soo-Hyun
- Choi, Soo-Young
- Park, Sa-Hee
- Kim, Dong-Wook
- White, Deborah L
- Yong, Agnes S M
- Ross, David M
- Scott, Hamish S
- Schreiber, Andreas W
- Hughes, Timothy P
Producer: 20190715
In:
Blood vol. 132
Availability: No items available.
|