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Gaffney, Patrick
One or more keywords matched the following items that are connected to Gaffney, Patrick
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Concept Pedigree
Academic Article Genome scan of human systemic lupus erythematosus by regression modeling: evidence of linkage and epistasis at 4p16-15.2.
Academic Article Decreased SMG7 expression associates with lupus-risk variants and elevated antinuclear antibody production.
Academic Article Fine-mapping chromosome 20 in 230 systemic lupus erythematosus sib pair and multiplex families: evidence for genetic epistasis with chromosome 16q12.
Academic Article RBPJ mutations identified in two families affected by Adams-Oliver syndrome.
Academic Article Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.
Academic Article Association of Natural Killer Cell Ligand Polymorphism HLA-C Asn80Lys With the Development of Anti-SSA/Ro-Associated Congenital Heart Block.
Academic Article Genome screening in human systemic lupus erythematosus: results from a second Minnesota cohort and combined analyses of 187 sib-pair families.
Academic Article Genetic linkage and transmission disequilibrium of marker haplotypes at chromosome 1q41 in human systemic lupus erythematosus.
Academic Article Familial aggregation and linkage analysis of autoantibody traits in pedigrees multiplex for systemic lupus erythematosus.
Academic Article Identification of novel coding mutation in C1qA gene in an African-American pedigree with lupus and C1q deficiency.
Academic Article Fine mapping chromosome 16q12 in a collection of 231 systemic lupus erythematosus sibpair and multiplex families.
Academic Article Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.
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