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Nature Genetics|June 30, 2001
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosisO T Njajou, N Vaessen, M Joosse, et al.
Nature Genetics|June 30, 2001
PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humansS M Sisodiya, S L Free, K A Williamson, et al.
Nature Genetics|June 30, 2001
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle diseaseR C Betz, B G Schoser, D Kasper, et al.
Nature Genetics|June 30, 2001
Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiationY Hiroi, S Kudoh, K Monzen, et al.
Nature Genetics|January 4, 2001
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defectsL A Mavrogiannis, I Antonopoulou, A Baxová, et al.
Nature Genetics|January 4, 2001
Dominant effector genetics in mammalian cellsX Xu, C Leo, Y Jang, et al.
Nature Genetics|January 4, 2001
A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genesH X Liu, L Cartegni, M Q Zhang, et al.
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