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Journal of Medical Genetics|October 1, 1992
The OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects): recurrence in sibsN M Smith, H M Chambers, M E Furness, et al.Journal of Medical Genetics|October 1, 1992
A new X linked syndrome with mental retardation and craniofacial dysmorphism?I Hyde-Forster, G McCarthy, A C BerryJournal of Medical Genetics|November 1, 1992
The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophyA Hunter, C Tsilfidis, G Mettler, et al.Journal of Medical Genetics|November 1, 1992
Presymptomatic diagnosis of myotonic dystrophyH G Brunner, W Nillesen, B A van Oost, et al.Journal of Medical Genetics|November 1, 1992
Specific molecular prenatal diagnosis for the CTG mutation in myotonic dystrophyJ Myring, A L Meredith, H G Harley, et al.Journal of Medical Genetics|November 1, 1992
Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research GroupA Brice, N Ravisé, G Stevanin, et al.Journal of Medical Genetics|November 1, 1992
Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenitaI D Young, N R Ruggins, J M Somers, et al.Journal of Medical Genetics|November 1, 1992
An atypical form of mucolipidosis IIIP Freisinger, J C Padovani, P MaroteauxJournal of Medical Genetics|April 3, 2004
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic featuresC Shaw-Smith, R Redon, L Rickman, et al.Journal of Medical Genetics|April 3, 2004
Homozygosity mapping of a third Joubert syndrome locus to 6q23C Lagier-Tourenne, E Boltshauser, N Breivik, et al.Pageof 649