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Human Mutation|August 9, 2007
MLPA screening reveals novel subtelomeric rearrangements in holoprosencephalyClaude Bendavid, Christèle Dubourg, Laurent Pasquier, et al.Human Mutation|June 23, 2007
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)Karine Poirier, David A Keays, Fiona Francis, et al.Human Mutation|July 28, 2007
Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 geneIda Annunziata, Valentina Bouchè, Alessia Lombardi, et al.Human Mutation|August 31, 2006
The 185delAG mutation (c.68_69delAG) in the BRCA1 gene triggers translation reinitiation at a downstream AUG codonMonique Buisson, Olga Anczuków, Almoutassem B Zetoune, et al.Human Mutation|August 31, 2006
Comprehensive NF1 screening on cultured Schwann cells from neurofibromasOphélia Maertens, Hilde Brems, Jo Vandesompele, et al.Human Mutation|August 31, 2006
Identification of the microdeletion breakpoint in a GLRA1null allele of Turkish hyperekplexia patientsKristina Becker, Carsten Hohoff, Bernhard Schmitt, et al.Human Mutation|August 31, 2006
Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposisSophie Lejeune, François Guillemot, Jean-Pierre Triboulet, et al.Human Mutation|August 31, 2006
Deletion hotspot in the argininosuccinate lyase gene: association with topoisomerase II and DNA polymerase alpha sitesJohn Christodoulou, Hugh J Craig, David C Walker, et al.Human Mutation|July 13, 2006
Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE)Veronika Schulz, Doris Hendig, Maja Henjakovic, et al.Human Mutation|July 13, 2006
Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutationsMichael Mitchell, Roger Mountford, Rachel Butler, et al.Pageof 578