Browse by UCL people
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Number of items: 5.
Article
Kelberman, D;
Islam, L;
Lakowski, J;
Bacchelli, C;
Chanudet, E;
Lescai, F;
Patel, A;
... Sowden, JC; + view all
(2014)
Mutation of SALL2 causes recessive ocular coloboma in humans and mice.
Hum Mol Genet
, 23
(10)
pp. 2511-2526.
10.1093/hmg/ddt643.
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Lescai, F;
Bonfiglio, S;
Bacchelli, C;
Chanudet, E;
Waters, A;
Sisodiya, SM;
Kasperavičiūtė, D;
... Stupka, E; + view all
(2012)
Characterisation and validation of insertions and deletions in 173 patient exomes.
PLoS One
, 7
(12)
, Article e51292. 10.1371/journal.pone.0051292.
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Lescai, F;
Franceschi, C;
(2010)
The Impact of Phenocopy on the Genetic Analysis of Complex Traits.
PLOS ONE
, 5
(7)
, Article e11876. 10.1371/journal.pone.0011876.
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Taccioli, C;
Maselli, V;
Tegnér, J;
Gomez-Cabrero, D;
Altobelli, G;
Emmett, W;
Lescai, F;
... Stupka, E; + view all
(2011)
ParkDB: a Parkinson's disease gene expression database.
Database
, 2011
(May 20)
, Article bar007. 10.1093/database/bar007.
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Thomas, AC;
Williams, H;
Seto-Salvia, N;
Bacchelli, C;
Jenkins, D;
O'Sullivan, M;
Mengrelis, K;
... Stanier, PM; + view all
(2014)
Mutations in SNX14 cause a distinctive autosomal recessive cerebellar ataxia and intellectual disability syndrome.
The American Journal of Human Genetics
, 95
(5)
pp. 611-621.
10.1016/j.ajhg.2014.10.007.
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