Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndromeLACHLAN, Katherine L; TEMPLE, I. Karen; MUMFORD, Andrew D et al.European journal of human genetics. 2004, Vol 12, Num 10, pp 790-796, issn 1018-4813, 7 p.Article

Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophyFERDINANDUSSE, Sacha; BARKER, Simon; LACHLAN, Katherine et al.Journal of neurology, neurosurgery and psychiatry. 2010, Vol 81, Num 3, pp 310-312, issn 0022-3050, 3 p.Article

Clinical and Radiographic Delineation of OdontochondrodysplasiaUNGER, Sheila; ANTONIAZZI, Franco; SUPERTI-FURGA, Andrea et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 6, pp 770-778, issn 1552-4825, 9 p.Article

Kabuki syndrome : new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohortTURNER, Claire; LACHLAN, Katherine; AMERASINGHE, Nishani et al.European journal of human genetics. 2005, Vol 13, Num 6, pp 716-720, issn 1018-4813, 5 p.Article

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorderLEEN, Wilhelmina G; KLEPPER, Joerg; BEKHOF, Jolita et al.Brain. 2010, Vol 133, pp 655-670, issn 0006-8950, 16 p., 3Article

Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families : t(4;11)(p16.2;p15.4)THOMAS, N. Simon; MALONEY, Viv; BRYANT, Victoria et al.Human genetics. 2009, Vol 125, Num 2, pp 181-188, issn 0340-6717, 8 p.Article

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrumBANKA, Siddharth; VEERAMACHANENI, Ratna; METCALFE, Kay et al.European journal of human genetics. 2012, Vol 20, Num 4, pp 381-388, issn 1018-4813, 8 p.Article

Nablus Mask-Like Facial Syndrome: Deletion of Chromosome 8q22.1 is Necessary But Not Sufficient to Cause the PhenotypeALLANSON, Judith; SMITH, Amanda; LE CAIGNEC, Cedric et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 9, pp 2091-2099, issn 1552-4825, 9 p.Article

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

Functional disomy resulting from duplications of distal Xq in four unrelated patientsLACHLAN, Katherine L; COLLINSON, Morag N; SANDFORD, Richard O. C et al.Human genetics. 2004, Vol 115, Num 5, pp 399-408, issn 0340-6717, 10 p.Article

PTEN Mutations as a Cause of Constitutive Insulin Sensitivity and ObesityPAL, Aparna; BARBER, Thomas M; WALKER, Lisa et al.The New England journal of medicine. 2012, Vol 367, Num 11, pp 1002-1011, issn 0028-4793, 10 p.Article