PMC Links for Nucleotide (Select 1675144492) - PMC

Select item 34871181.

Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization

Stephen R.F. Twigg, Deborah Lloyd, Dagan Jenkins, Nursel E. Elçioglu, Christopher D.O. Cooper, Nouriya Al-Sannaa, Ali Annagür, Gabriele Gillessen-Kaesbach, Irina Hüning, Samantha J.L. Knight, Judith A. Goodship, Bernard D. Keavney, Philip L. Beales, Opher Gileadi, Simon J. McGowan, Andrew O.M. Wilkie

Am J Hum Genet. 2012 Nov 2; 91(5): 897–905. doi: 10.1016/j.ajhg.2012.08.027

PMCID:: PMC3487118

Abstract Article PDF–623K

Select item 30169112.

Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia

Juliette J. Kahle, Natali Gulbahce, Chad A. Shaw, Janghoo Lim, David E. Hill, Albert-László Barabási, Huda Y. Zoghbi

Hum Mol Genet. 2011 Feb 1; 20(3): 510–527. Published online 2010 Nov 15. doi: 10.1093/hmg/ddq496

PMCID:: PMC3016911

Abstract Article PDF–703K

Select item 26370503.

Large-Scale Proteomics and Phosphoproteomics of Urinary Exosomes

Patricia A. Gonzales, Trairak Pisitkun, Jason D. Hoffert, Dmitry Tchapyjnikov, Robert A. Star, Robert Kleta, Nam Sun Wang, Mark A. Knepper

J Am Soc Nephrol. 2009 Feb; 20(2): 363–379. doi: 10.1681/ASN.2008040406

PMCID:: PMC2637050

Abstract Article

Select item 70580014.

Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis

Ewelina Bukowska-Olech, Delfina Popiel, Grzegorz Koczyk, Anna Sowińska-Seidler, Magdalena Socha, Bartosz Wojciechowicz, Adam Dawidziuk, Dawid Larysz, Aleksander Jamsheer

Sci Rep. 2020; 10: 4159. Published online 2020 Mar 5. doi: 10.1038/s41598-020-61048-5

PMCID:: PMC7058001

Abstract Article PDF–1.5M

Select item 60980045.

A novel ZIC3 gene mutation identified in patients with heterotaxy and congenital heart disease

Shuolin Li, Sida Liu, Weicheng Chen, Yuan Yuan, Ruoyi Gu, Yangliu Song, Jian Li, Yinyin Cao, Yixiang Lin, Jun Xu, Huijun Wang, Duan Ma, Xiaojing Ma, Wei Sheng, Guoying Huang

Sci Rep. 2018; 8: 12386. Published online 2018 Aug 17. doi: 10.1038/s41598-018-30204-3

PMCID:: PMC6098004

Abstract Article PDF–3.3M

Select item 59204066.

Uncovering the heterogeneous genetic variations in two insulin-expressing tumors in a patient with MEN1

Zai Wang, Liguo Liu, Jie Luo, Jing Guo, Min Zhai, Wenjian Zhang, Zhiying Yang

Oncol Lett. 2018 May; 15(5): 7123–7131. Published online 2018 Mar 6. doi: 10.3892/ol.2018.8184

PMCID:: PMC5920406

Abstract Article PDF–1.5M

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