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Links from Nucleotide

Items: 6

1.
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype
Johannes Koch, Peter Freisinger, René G Feichtinger, Franz A Zimmermann, Christian Rauscher, Hans P Wagentristl, Vassiliki Konstantopoulou, Rainer Seidl, Tobias B Haack, Holger Prokisch, Uwe Ahting, Wolfgang Sperl, Johannes A Mayr, Esther M Maier
Orphanet J Rare Dis. 2015; 10: 40. Published online 2015 Apr 2. doi: 10.1186/s13023-015-0254-5
PMCID:
PMC4422538
AbstractArticlePDF–2.3M
2.
Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient
Hiroyuki Morino, Ryosuke Miyamoto, Shizuo Ohnishi, Hirofumi Maruyama, Hideshi Kawakami
BMC Neurol. 2014; 14: 5. Published online 2014 Jan 7. doi: 10.1186/1471-2377-14-5
PMCID:
PMC3890717
AbstractArticlePDF–778K
3.
A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome
Gaëlle Blandin, Sylvie Marchand, Karine Charton, Nathalie Danièle, Evelyne Gicquel, Jean-Baptiste Boucheteil, Azéddine Bentaib, Laetitia Barrault, Daniel Stockholm, Marc Bartoli, Isabelle Richard
Skelet Muscle. 2013; 3: 3. Published online 2013 Feb 15. doi: 10.1186/2044-5040-3-3
PMCID:
PMC3610214
AbstractArticlePDF–1.7M
4.
Integrated mRNA-MicroRNA Profiling of Human NK Cell Differentiation Identifies MiR-583 as a Negative Regulator of IL2Rγ Expression
Sohyun Yun, Su Ui Lee, Jung Min Kim, Hyun-Jun Lee, Hae Young Song, Young Kyeung Kim, Haiyoung Jung, Young-Jun Park, Suk Ran Yoon, Sei-Ryang Oh, Tae-Don Kim, Inpyo Choi
PLoS One. 2014; 9(10): e108913. Published online 2014 Oct 14. doi: 10.1371/journal.pone.0108913
PMCID:
PMC4196775
AbstractArticlePDF–3.2M
5.
Genome-wide Profiling of RNA splicing in prostate tumor from RNA-seq data using virtual microarrays
Subhashini Srinivasan, Arun H Patil, Mohit Verma, Jonathan L Bingham, Raghunathan Srivatsan
J Clin Bioinforma. 2012; 2: 21. Published online 2012 Nov 26. doi: 10.1186/2043-9113-2-21
PMCID:
PMC3533750
AbstractArticlePDF–3.5M
6.
Changes in the Peripheral Blood Transcriptome Associated with Occupational Benzene Exposure Identified by Cross-Comparison on Two Microarray Platforms
CLIONA M. MCHALE, LUOPING ZHANG, QING LAN, GUILAN LI, ALAN E. HUBBARD, MATTHEW S. FORREST, ROEL VERMEULEN, JINSONG CHEN, MIN SHEN, STEPHEN M. RAPPAPORT, SONGNIAN YIN, MARTYN T. SMITH, NATHANIEL ROTHMAN
Genomics. Author manuscript; available in PMC 2010 Apr 1.
Published in final edited form as: Genomics. 2009 Apr; 93(4): 343–349. Published online 2009 Jan 20. doi: 10.1016/j.ygeno.2008.12.006
PMCID:
PMC2693268
AbstractArticlePDF–401K

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