Volume 3; Issue 2

Main
Molecular Case Studies
Volume 3; Issue 2

Molecular Case Studies

Volume 3; Issue 2

1

Integrating functional genomics to accelerate mechanistic personalized medicine

Tyner, Jeffrey W.

Journal:

Molecular Case Studies

Year:

2017

Language:

english

File:

PDF, 1.04 MB

english, 2017

2

A novel, potentially targetable TMEM106B-BRAF fusion in pleomorphic xanthoastrocytoma

Hsiao, Susan J., Karajannis, Matthias A., Diolaiti, Daniel, Mansukhani, Mahesh M., Bender, Julia Glade, Kung, Andrew L., Garvin, James H.

Journal:

Molecular Case Studies

Year:

2017

Language:

english

File:

PDF, 721 KB

english, 2017

3

AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant

Morton, Sarah U., Prabhu, Sanjay P., Lidov, Hart G.W., Shi, Jiahai, Anselm, Irina, Brownstein, Catherine A., Bainbridge, Matthew N., Beggs, Alan H., Vargas, Sara O., Agrawal, Pankaj B.

Journal:

Molecular Case Studies

Year:

2017

Language:

english

File:

PDF, 2.79 MB

english, 2017

4

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation

Patel, Ronak M., Liu, David, Gonzaga-Jauregui, Claudia, Jhangiani, Shalini, Lu, James T., Sutton, V. Reid, Fernbach, Susan D., Azamian, Mahshid, White, Lisa, Edmond, Jane C., Paysse, Evelyn A., Belmon

Journal:

Molecular Case Studies

Year:

2017

Language:

english

File:

PDF, 1.58 MB

english, 2017