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Journal of Medical Genetics|February 1, 1977
A new syndrome of cleft palate associated with coloboma, hypospadias, deafness, short stature, and radial synostosisM A Abruzzo, R P EricksonJournal of Medical Genetics|May 1, 1995
Familial pancreatic adenocarcinoma: association with diabetes and early molecular diagnosisJ P Evans, W Burke, R Chen, et al.Journal of Medical Genetics|May 1, 1995
X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndromeA K Gedeon, M J Wilson, A C Colley, et al.Journal of Medical Genetics|May 1, 1995
Phenotypic variability in patients with generalised resistance to thyroid hormoneJ Pohlenz, S Wirth, A Winterpacht, et al.Journal of Medical Genetics|May 1, 1995
Sequence analysis of the CCG polymorphic region adjacent to the CAG triplet repeat of the HD gene in normal and HD chromosomesC Pêcheux, J F Mouret, A Dürr, et al.Journal of Medical Genetics|May 1, 1995
A family study describing second cousins with cystic fibrosis and no common ancestor who is a carrierV M Park, M E Smith, M T Knight, et al.Journal of Medical Genetics|February 1, 1993
Detailed genetic mapping of the von Hippel-Lindau disease tumour suppressor geneF M Richards, E R Maher, F Latif, et al.Journal of Medical Genetics|February 1, 1993
Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28J R Yates, J P Warner, J A Smith, et al.Journal of Medical Genetics|February 1, 1993
Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit geneD L Harmon, D Gardner-Medwin, J L StirlingJournal of Medical Genetics|February 1, 1993
Identification of the FRAXE fragile site in two families ascertained for X linked mental retardationG A Flynn, M C Hirst, S J Knight, et al.Pageof 649