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American Journal of Medical Genetics|March 17, 2001
Submicroscopic 8pter deletion, mild mental retardation, and behavioral problems caused by a familial t(8;20)(p23;p13)B B de Vries, M Lees, S J Knight, et al.Human Genetics|January 7, 1998
Clinical and genetic heterogeneity in Meckel syndromeP Paavola, R Salonen, A Baumer, et al.Cell|July 16, 1993
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardationS J Knight, A V Flannery, M C Hirst, et al.Cytogenetic and Genome Research|September 7, 2006
Duplications of proximal 16q flanked by heterochromatin are not euchromatic variants and show no evidence of heterochromatic position effectJ C K Barber, S Zhang, N Friend, et al.American Journal of Human Genetics|December 13, 2006
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlationM Upadhyaya, S M Huson, M Davies, et al.American Journal of Medical Genetics. Part A|September 19, 2009
Expanding CEP290 mutational spectrum in ciliopathiesLorena Travaglini, Francesco Brancati, Tania Attie-Bitach, et al.Pageof 2