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American Journal of Human Genetics|February 27, 2019
Pharmacodynamic Study of Miransertib in Individuals with Proteus SyndromeKim M Keppler-Noreuil, Julie C Sapp, Marjorie J Lindhurst, et al.
American Journal of Human Genetics|May 6, 2014
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophyPanagiotis I Sergouniotis, Christina Chakarova, Cian Murphy, et al.
American Journal of Human Genetics|May 6, 2014
AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 traffickingNiovi Setta-Kaffetzi, Michael A Simpson, Alexander A Navarini, et al.
American Journal of Human Genetics|January 3, 2017
A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell ArteritisF David Carmona, Augusto Vaglio, Sarah L Mackie, et al.
American Journal of Human Genetics|February 14, 2017
Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous MalformationJavier A Couto, August Y Huang, Dennis J Konczyk, et al.
American Journal of Human Genetics|February 14, 2017
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive ImpairmentManuela Wiessner, Andreas Roos, Christopher J Munn, et al.
American Journal of Human Genetics|February 14, 2017
Public Attitudes toward Consent and Data Sharing in Biobank Research: A Large Multi-site Experimental Survey in the USSaskia C Sanderson, Kyle B Brothers, Nathaniel D Mercaldo, et al.
American Journal of Human Genetics|August 13, 2019
Extreme Polygenicity of Complex Traits Is Explained by Negative SelectionLuke J O'Connor, Armin P Schoech, Farhad Hormozdiari, et al.
American Journal of Human Genetics|December 1, 1988
Genetic studies of human apolipoproteins. VII. Population distribution of polymorphisms of apolipoproteins A-I, A-II, A-IV, C-II, E, and H in NigeriaB Sepehrnia, M I Kamboh, L L Adams-Campbell, et al.
American Journal of Human Genetics|August 27, 2019
Using Transcriptomic Hidden Variables to Infer Context-Specific Genotype Effects in the BrainBernard Ng, William Casazza, Ellis Patrick, et al.
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