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A molecular and clinical study of larsen syndrome caused by mutations in FLNBBICKNELL, Louise S; FARRINGTON-ROCK, Claire; LEASK, Kathryn et al.Journal of medical genetics. 2007, Vol 44, Num 2, pp 89-98, issn 0022-2593, 10 p.Article

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Autism, language and communication in children with sex chromosome trisomiesBISHOP, Dorothy V. M; JACOBS, Patricia A; SHEARS, Deborah et al.Archives of disease in childhood. 2011, Vol 96, Num 10, pp 954-959, issn 0003-9888, 6 p.Article

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Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosisDE MUNNIK, Sonja A; BICKNELL, Louise S; HAGEN, Johanna M.van et al.European journal of human genetics. 2012, Vol 20, Num 6, pp 598-606, issn 1018-4813, 9 p.Article

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Mutations in the pre-replication complex cause Meier-Gorlin syndromeBICKNELL, Louise S; BONGERS, Ernie M.h F; VAN BOKHOVEN, Hans et al.Nature genetics. 2011, Vol 43, Num 4, pp 356-359, issn 1061-4036, 4 p.Article

Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo SyndromeCLAYTON-SMITH, Jill; O'SULLIVAN, James; FRYER, Alan et al.American journal of human genetics. 2011, Vol 89, Num 5, pp 675-681, issn 0002-9297, 7 p.Article

Monozygotic Twins Discordant for Phacomatosis Pigmentovascularis: Evidence for the Concept of Twin SpottingMOUTRAY, Tanya; NAPIER, Maria; SHAFIQ, Ayad et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 3, pp 718-720, issn 1552-4825, 3 p.Article

Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologiesLIM, Derek; BOWDIN, Sarah C; REIK, Wolf et al.Human reproduction (Oxford. Print). 2009, Vol 24, Num 3, pp 741-747, issn 0268-1161, 7 p.Article

Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulatorsGESTRI, Gaia; OSBORNE, Robert J; FITZGERALD, Tomas et al.Human genetics. 2009, Vol 126, Num 6, pp 791-803, issn 0340-6717, 13 p.Article

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A family with duane anomaly and distal limb abnormalities : A further family with the arthrogryposis-ophthalmoplegia syndromeMCCANN, Emma; FRYER, Alan E; NEWMAN, William et al.American journal of medical genetics. 2005, Vol 139A, Num 2, pp 123-126, issn 0148-7299, 4 p.Article