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Journal of Medical Genetics|February 1, 1992
Cyclophosphamide increases the frequency of sister chromatid exchange in direct preparations of human chorionic villi in the absence of supplementary enzymatic activation systemsS Pariani, M Buscaglia, M Piantanida, et al.Journal of Medical Genetics|September 6, 2005
Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplificationJ Douglas, K Tatton-Brown, K Coleman, et al.Journal of Medical Genetics|September 6, 2005
Collagen VI related muscle disordersA K Lampe, K M D BushbyJournal of Medical Genetics|September 6, 2005
ASPM mutations identified in patients with primary microcephaly and seizuresJ Shen, W Eyaid, G H Mochida, et al.Journal of Medical Genetics|February 1, 1992
Unusual T cell clones in a patient with Nijmegen breakage syndromeD Stoppa-Lyonnet, D Girault, F LeDeist, et al.Journal of Medical Genetics|February 1, 1992
Chromosome in situ suppression hybridisation in human male meiosisA S Goldman, M A HulténJournal of Medical Genetics|September 27, 2005
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patientsH L Archer, S D Whatley, J C Evans, et al.Journal of Medical Genetics|May 2, 2006
Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autismZ Talebizadeh, D Y Lam, M F Theodoro, et al.Journal of Medical Genetics|May 2, 2006
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndromeW Seifert, M Holder-Espinasse, S Spranger, et al.Journal of Medical Genetics|August 15, 2006
Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivationHayley Archer, Julie Evans, Helen Leonard, et al.Pageof 649