PMC Links for Gene (Select 302996) - PMC

Select item 34155451.

Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores

Karen Majczenko, Ann E. Davidson, Sandra Camelo-Piragua, Pankaj B. Agrawal, Richard A. Manfready, Xingli Li, Sucheta Joshi, Jishu Xu, Weiping Peng, Alan H. Beggs, Jun Z. Li, Margit Burmeister, James J. Dowling

Am J Hum Genet. 2012 Aug 10; 91(2): 365–371. doi: 10.1016/j.ajhg.2012.06.012

PMCID:: PMC3415545

Abstract Article PDF–1.2M

Select item 29212852.

Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger–Huët anomaly

Nadezda Maksimova, Kenju Hara, Irina Nikolaeva, Tan Chun-Feng, Tomoaki Usui, Mineo Takagi, Yasushi Nishihira, Akinori Miyashita, Hiroshi Fujiwara, Tokuhide Oyama, Anna Nogovicina, Aitalina Sukhomyasova, Svetlana Potapova, Ryozo Kuwano, Hitoshi Takahashi, Masatoyo Nishizawa, Osamu Onodera

J Med Genet. 2010 Aug; 47(8): 538–548. Published online 2010 Jun 24. doi: 10.1136/jmg.2009.074815

PMCID:: PMC2921285

Abstract Article PDF–1.8M

Select item 38167573.

Deuterosome Mediated Centriole Biogenesis

Deborah A. Klos Dehring, Eszter K. Vladar, Michael E. Werner, Jennifer W. Mitchell, Peter Hwang, Brian J. Mitchell

Dev Cell. Author manuscript; available in PMC 2014 Oct 14.

Published in final edited form as: Dev Cell. 2013 Oct 14; 27(1): 10.1016/j.devcel.2013.08.021. Published online 2013 Sep 26. doi: 10.1016/j.devcel.2013.08.021

PMCID:: PMC3816757

Abstract Article PDF–3.5M

Select item 1392414.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

Select item 31780595.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

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