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Sara Mole
University College London - London / United Kingdom
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AD Scientific Index ID: 1364572
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Sara Mole's MOST POPULAR ARTICLES
1-)
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2ALM Mulligan, JBJ Kwok, CS Healey, MJ Elsdon, C Eng, E Gardner, ...Nature 363 (6428), 458-460, 199323151993
2-)
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosageKR Smith, J Damiano, S Franceschetti, S Carpenter, L Canafoglia, ...The American Journal of Human Genetics 90 (6), 1102-1107, 20124392012
3-)
The neuronal ceroid lipofuscinoses (Batten disease)S Mole, R Williams, H GoebelOxford University Press, 2011356*2011
4-)
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8S Ranta, Y Zhang, B Ross, L Lonka, E Takkunen, A Messer, J Sharp, ...Nature genetics 23 (2), 233-236, 19993651999
5-)
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinosesM Kousi, AE Lehesjoki, SE MoleHuman mutation 33 (1), 42-63, 20123582012
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