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Journal of Neurology|September 17, 2004
A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegiaThomas T Warner, Heema Patel, Christos Proukakis, et al.Nature Genetics|July 23, 2002
SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegiaHeema Patel, Harold Cross, Christos Proukakis, et al.Human Molecular Genetics|January 15, 2005
Common arterial trunk associated with a homeodomain mutation of NKX2.6Kirsten Heathcote, Claire Braybrook, Lulu Abushaban, et al.American Journal of Medical Genetics. Part A|April 23, 2003
Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS)Diana Baralle, Chris Mattocks, Kamini Kalidas, et al.Neurogenetics|February 16, 2005
A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegiaJohanna A Reed, Phillip A Wilkinson, Heema Patel, et al.Journal of Human Genetics|February 4, 2005
Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11Kamini Kalidas, Adam C Shaw, Andrew H Crosby, et al.Human Molecular Genetics|October 11, 2002
Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patientsClaire Braybrook, Steven Lisgo, Kit Doudney, et al.American Journal of Human Genetics|July 13, 2004
Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndromeMarco Tartaglia, Viviana Cordeddu, Hong Chang, et al.American Journal of Medical Genetics. Part A|April 21, 2004
3D analysis of facial morphologyPeter Hammond, Tim J Hutton, Judith E Allanson, et al.BMC Medical Genetics|November 12, 2015
A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentationsThomas Iype, Vafa Alakbarzade, Mary Iype, et al.Pageof 4