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Journal Article
Journal of Investigative Dermatology, ISSN 0022-202X, 2009, Volume 129, Issue 6, pp. 1319 - 1321
Recent progress in the genetics of autosomal recessive congenital ichthyosis (ARCI) has illustrated the power of genetic strategies for the investigation... 
ALOX12B | MUTATIONS | GENE | EPIDERMIS | LAMELLAR ICHTHYOSIS | DERMATOLOGY | Phenotype | Ichthyosiform Erythroderma, Congenital - diagnosis | DNA Mutational Analysis | Humans | Genotype | Mutation | Genes, Recessive | Infant, Newborn | Skin - pathology | Ichthyosiform Erythroderma, Congenital - genetics | Polymorphism, Genetic
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 05/2016, Volume 31, Issue 5, pp. 1030 - 1040
Journal Article
Journal Article
Nature (London), ISSN 1476-4687, 2011, Volume 478, Issue 7367, pp. 57 - 63
Journal Article
Nature genetics, ISSN 1546-1718, 2013, Volume 45, Issue 5, pp. 531 - 536
Journal Article
Nature (London), ISSN 1476-4687, 2010, Volume 467, Issue 7312, pp. 207 - 210
Journal Article