An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of the RMRP gene associated with chondrodysplasia and severe immunodeficiency - Case report

Vatanavicharn, N. / Visitsunthorn, N. / Pho-iam, T. et al. | British Library Online Contents | 2010

Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in the LDLR gene - Short communication

Kubalska, J. / Chmara, M. / Limon, J. et al. | British Library Online Contents | 2008

Case study of complete electric radiant heating

Engineering Index Backfile | 1954

Renal tubular dysgenesis and mutations in the renin-angiotensin system genes

Gubler, Marie-Claire / Gribouval, Olivier / Antignac, Corinne et al. | British Library Conference Proceedings | 2014

Mutation of the MYH7 gene in a child with hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome - Case report

Bobkowski, W. / Sobieszczanska, M. / Turska-Kmiec, A. et al. | British Library Online Contents | 2007