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American Journal of Medical Genetics|July 16, 1999
Small deletions in the type II collagen triple helix produce kniest dysplasiaD J Wilkin, A S Artz, S South, et al.American Journal of Medical Genetics|July 16, 1999
BRCA1 IVS16+6T-->C is a deleterious mutation that creates an aberrant transcript by activating a cryptic splice donor siteT Scholl, M T Pyne, D Russo, et al.American Journal of Medical Genetics|October 21, 1999
Multiple congenital anomalies syndrome: growth and mental retardation, microcephaly, preauricular skin tags, cleft palate, camptodactyly, and distal limb anomalies. Report on two unrelated Brazilian patientsM L Guion-Almeida, R M Zechi-Ceide, A Richieri-CostaAmerican Journal of Medical Genetics|September 1, 1999
Pathology of tumors of the peripheral nerve sheath in type 1 neurofibromatosisJ M WoodruffAmerican Journal of Medical Genetics|July 9, 1999
Fragile X syndrome and an isodicentric X chromosome in a woman with multiple anomalies, developmental delay, and normal pubertal developmentD L Freedenberg, L W Gane, C S Richards, et al.American Journal of Medical Genetics|July 9, 1999
Regional localization of a nonspecific X-linked mental retardation gene (MRX59) to Xp21.2-p22.2N J Carpenter, W T Brown, Y Qu, et al.American Journal of Medical Genetics|July 9, 1999
Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patientsM Grasso, F Faravelli, C Lo Nigro, et al.American Journal of Medical Genetics|July 9, 1999
Hypomelanosis of Ito: no entity, but a cutaneous sign of mosaicismW Küster, A KönigPageof 854