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Human Genetics|June 20, 2008
Chromosomal map of human brain malformationsNataliya Tyshchenko, Iosif Lurie, Albert SchinzelEuropean Journal of Medical Genetics|March 21, 2009
1.6Mb deletion in chromosome band 3q29 associated with eye abnormalitiesNataliya Tyshchenko, Karl Hackmann, Eva-Maria Gerlach, et al.American Journal of Medical Genetics. Part A|October 21, 2009
Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitusChristèle du Souich, Athena Chou, Jingyi Yin, et al.Human Mutation|October 4, 2012
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variabilityIzak J Bisschoff, Christine Zeschnigk, Denise Horn, et al.Pageof 1