PMC Links for Protein (Select 7661798) - PMC

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Items: 5

Select item 57259611.

CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly and pigmentary abnormalities

Magalie S. Leduc, Zhiyv Niu, Weimin Bi, Wenmiao Zhu, Irene Miloslavskaya, Theodore Chiang, Haley Streff, John R. Seavitt, Steve Murray, Christine Eng, Audrey Chan, Yaping Yang, Seema R. Lalani

Am J Med Genet A. Author manuscript; available in PMC 2017 Dec 12.

Published in final edited form as: Am J Med Genet A. 2016 Aug; 170(8): 2206–2211. Published online 2016 Jun 2. doi: 10.1002/ajmg.a.37780

PMCID:: PMC5725961

Abstract Article PDF–621K

Select item 39124192.

Genomic analysis of primordial dwarfism reveals novel disease genes

Ranad Shaheen, Eissa Faqeih, Shinu Ansari, Ghada Abdel-Salam, Zuhair N. Al-Hassnan, Tarfa Al-Shidi, Rana Alomar, Sameera Sogaty, Fowzan S. Alkuraya

Genome Res. 2014 Feb; 24(2): 291–299. doi: 10.1101/gr.160572.113

PMCID:: PMC3912419

Abstract Article PDF–1.4M

Select item 38602583.

Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9

Jeannette Simino, Yun Ju Sung, Rezart Kume, Karen Schwander, D. C. Rao

Front Genet. 2013; 4: 277. Published online 2013 Dec 12. doi: 10.3389/fgene.2013.00277

PMCID:: PMC3860258

Abstract Article PDF–2.9M

Select item 28067174.

Identification of a small-molecule inhibitor of the PICK1 PDZ domain that inhibits hippocampal LTP and LTD

Thor S. Thorsen, Kenneth L. Madsen, Nelson Rebola, Mette Rathje, Victor Anggono, Anders Bach, Irina S. Moreira, Nicolai Stuhr-Hansen, Tino Dyhring, Dan Peters, Thijs Beuming, Richard Huganir, Harel Weinstein, Christophe Mulle, Kristian Strømgaard, Lars Christian B. Rønn, Ulrik Gether

Proc Natl Acad Sci U S A. 2010 Jan 5; 107(1): 413–418. Published online 2009 Nov 29. doi: 10.1073/pnas.0902225107