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A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene Ferreiro-girani, Ana; Monnier, Nicole; Romero, Norma B; Leroy, Jean-Paul; ... Guicheney, Pascale 2002
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Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B Wiszniewski, W.; Fondaneche, M. C.; Lambert, N.; Masternak, Krzysztof; ... Lisowska-Grospierre, B. 2000
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Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity Mehenni, H.; Gehrig, Corinne; Nezu, J.; Oku, A.; ... Antonarakis, Stylianos 1998
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[Alzheimer's disease and genetic factors] Leuba, G; Savioz, Armand 1997