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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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
english, 2017
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