Publications

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Author Title [ Year(Asc)]
Filters: Keyword is Basement Membrane  [Clear All Filters]
2017
Zou, Y. et al. P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye. Hum Mol Genet 26, 2207-2217 (2017).
2016
Jerber, J. et al. Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly. Am J Hum Genet 99, 1181-1189 (2016).
2013
Radmanesh, F. et al. Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. Am J Hum Genet 92, 468-74 (2013).