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European Journal of Human Genetics : EJHG|October 23, 2003
The deleted in colorectal carcinoma (DCC) gene 201 R --> G polymorphism: no evidence for genetic association with autoimmune diseaseRichard J Hall, Marilyn E Merriman, Rachel A Green, et al.
Neurology|August 24, 2012
Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesisTiziana Pisano, A James Barkovich, Richard J Leventer, et al.
Molecular Vision|September 16, 2021
A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1)Kent W Small, Stijn Van de Sompele, Karen Nuytemans, et al.
Nature Genetics|May 31, 2011
Genome-wide association identifies three new susceptibility loci for Paget's disease of boneOmar M E Albagha, Sachin E Wani, Micaela R Visconti, et al.
Retina (Philadelphia, Pa.)|October 17, 2024
THE FIGHT INHERITED RETINAL BLINDNESS! PROJECT: A New Treatment Outcome and Natural History Registry for Inherited Retinal DiseaseMatthew P Simunovic, Anthony T Moore, John Grigg, et al.
Molecular Genetics and Metabolism|May 31, 2024
Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific populationIsaac Bernhardt, Leah E Frajman, Bryony Ryder, et al.
Human Molecular Genetics|September 6, 2012
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagenUlrike Schwarze, Tim Cundy, Shawna M Pyott, et al.
American Journal of Medical Genetics. Part A|September 11, 2010
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic featuresSheila Unger, Ekkehart Lausch, Antonio Rossi, et al.
American Journal of Human Genetics|July 22, 2025
The evolution of health data ecosystems: An international surveyJordan P Lerner-Ellis, E Magda Price, Shazia Subhani, et al.
The New Zealand Medical Journal|February 17, 2017
Proposed new industry code on unhealthy food marketing to children and young people: will it make a difference?Boyd Swinburn, Stefanie Vandevijvere, Alistair Woodward, et al.
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