au.\*:("METCALFE, Kay")
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GTF2IRD1 in craniofacial development of humans and miceTASSABEHJI, May; HAMMOND, Peter; STEWART, Helen et al.Science (Washington, D.C.). 2005, Vol 310, Num 5751, pp 1184-1187, issn 0036-8075, 4 p.Article
Bohring―Opitz (Oberklaid―Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesisHASTINGS, Rob; COBBEN, Jan-Maarten; MCGOWAN, Ruth et al.European journal of human genetics. 2011, Vol 19, Num 5, pp 513-519, issn 1018-4813, 7 p.Article
Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndromeTIPNEY, Hannah J; HINSLEY, Timothy A; BRASS, Andrew et al.European journal of human genetics. 2004, Vol 12, Num 7, pp 551-560, issn 1018-4813, 10 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
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
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golginHENNIES, Hans Christian; KORNAK, Uwe; WILCOX, William R et al.Nature genetics. 2008, Vol 40, Num 12, pp 1410-1412, issn 1061-4036, 3 p.Article
Diagnosing fetal alcohol syndrome: new insights from newer genetic technologiesDOUZGOU, Sofia; BREEN, Catherine; CROW, Yanick J et al.Archives of disease in childhood. 2012, Vol 97, Num 9, pp 812-817, issn 0003-9888, 6 p.Article
The clinical management of relatives of young sudden unexplained death victims; implantable defibrillators are rarely indicatedCALDWELL, Jane; MORETON, Natalie; KHAN, Naz et al.Heart (London 1996). 2012, Vol 98, Num 8, pp 631-636, issn 1355-6037, 6 p.Article
Highly Penetrant Alterations of a Critical Region Including BDNF in Human Psychopathology and ObesityERNST, Carl; MARSHALL, Christian R; CRAPPER, Liam et al.Archives of general psychiatry. 2012, Vol 69, Num 12, pp 1238-1246, issn 0003-990X, 9 p.Article
Geroderma Osteodysplastica Maps to a 4 Mb Locus on Chromosome 1q24NEWMAN, William G; CLAYTON-SMITH, Jill; MUNDLOS, Stefan et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 23, pp 3034-3037, issn 1552-4825, 4 p.Article
Discriminating power of localized three-dimensional facial morphologyHAMMOND, Peter; HUTTON, Tim J; PATTON, Michael et al.American journal of human genetics. 2005, Vol 77, Num 6, pp 999-1010, issn 0002-9297, 12 p.Article