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Results 21-30 of 36 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
1995Peroxisomal assembly defects : Clinical, pathological and biochemical findings in two patients belonging to a newly identified complementation groupPoulos, A.; Christodoulou, J.; Chow, C.; Goldblatt, J.; Paton, B.; Orii, T.; Suzuki, Y.; Shimozawa, N.
1995Molecular basis of p(CCG)n repeat instability at the FRA16A fragile site locusNancarrow, J.; Holman, K.; Hori, T.; Denton, M.; Sutherland, G.; Richards, R.
1995A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathyLaing, N.; Wilton, S.; Akkari, P.; Dorosz, S.; Boundy, K.; Kneebone, C.; Blumbergs, P.; White, S.; Watkins, H.; Love, D.; Haan, E.
1995Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to 20q13.2Phillips, H.; Scheffer, I.; Berkovic, S.; Hollway, G.; Sutherland, G.; Mulley, J.
1995Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2Jones, C.; Penny, L.; Mattina, T.; Yu, S.; Baker, E.; Voullaire, L.; Langdon, W.; Sutherland, G.; Richards, R.; Tunnacliffe, A.
1995Longitudinal evaluation of serum trypsinogen measurement in pancreatic-insufficient and pancreatic-sufficient patients with cystic fibrosisCouper, R.; Corey, M.; Durie, P.; Forstner, G.; Moore, D.
1995A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsySteinlein, O.; Mulley, J.; Propping, P.; Wallace, R.; Phillips, H.; Sutherland, G.; Scheffer, I.; Berkovic, S.
1995Longitudinal study of lipoprotein (a) in peripubertal children with insulin dependent diabetesCouper, J.; Cocciolone, R.; Bates, D.; Nairn, J.; Ryall, R.
1995Psychiatric and medical features of near fatal asthmaCampbell, D.; Yellowlees, P.; McLennan, G.; Coates, J.; Frith, P.; Gluyas, P.; Latimer, K.; Luke, C.; Martin, A.; Ruffin, R.
1995Effect of cefotaxime or ceftriaxone treatment on nasopharyngeal Haemophilus influenzae type b colonization in childrenGoldwater, P.