Volume 2; Issue 5

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Molecular Case Studies
Volume 2; Issue 5

Molecular Case Studies

Volume 2; Issue 5

1

Testing ERBB2 p.L755S kinase domain mutation as a druggable target in a patient with advanced colorectal cancer

Aung, Kyaw L., Stockley, Tracy L., Serra, Stefano, Kamel-Reid, Suzanne, Bedard, Philippe L., Siu, Lillian L.

Journal:

Molecular Case Studies

Year:

2016

Language:

english

File:

PDF, 237 KB

english, 2016

2

A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia

Smedemark-Margulies, Niklas, Brownstein, Catherine A., Vargas, Sigella, Tembulkar, Sahil K., Towne, Meghan C., Shi, Jiahai, Gonzalez-Cuevas, Elisa, Liu, Kevin X., Bilguvar, Kaya, Kleiman, Robin J., Ha

Journal:

Molecular Case Studies

Year:

2016

Language:

english

File:

PDF, 1.67 MB

english, 2016

3

A novel TP53-KPNA3 translocation defines a de novo treatment-resistant clone in osteosarcoma

Chen, Kenneth S., Kwon, Woo Sun, Kim, Jiwoong, Heo, Su Jin, Kim, Hyo Song, Kim, Hyo Ki, Kim, Soo Hee, Lee, Won Suk, Chung, Hyun Cheol, Rha, Sun Young, Hwang, Tae Hyun

Journal:

Molecular Case Studies

Year:

2016

Language:

english

File:

PDF, 1.53 MB

english, 2016

4

A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia

Moskowitz, Abby M., Belnap, Newell, Siniard, Ashley L., Szelinger, Szabolcs, Claasen, Ana M., Richholt, Ryan F., De Both, Matt, Corneveaux, Jason J., Balak, Chris, Piras, Ignazio S., Russell, Megan, C

Journal:

Molecular Case Studies

Year:

2016

Language:

english

File:

PDF, 1.09 MB

english, 2016

5

Evolution of a FLT3 -TKD mutated subclone at meningeal relapse in acute promyelocytic leukemia

Bochtler, Tilmann, Fröhling, Stefan, Weichert, Wilko, Endris, Volker, Thiede, Christian, Hutter, Barbara, Hundemer, Michael, Ho, Anthony D., Krämer, Alwin

Journal:

Molecular Case Studies

Year:

2016

Language:

english

File:

PDF, 1.79 MB

english, 2016

6

Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle

Lin, Frank Y., Bergstrom, Katie, Person, Richard, Bavle, Abhishek, Ballester, Leomar Y., Scollon, Sarah, Raesz-Martinez, Robin, Jea, Andrew, Birchansky, Sherri, Wheeler, David A., Berg, Stacey L., Chi

Journal:

Molecular Case Studies

Year:

2016

Language:

english

File:

PDF, 1.26 MB

english, 2016

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