Showing results (131-140 of 5,765) with videos related to
Sort By:
Pageof 577
Human Mutation|December 13, 2006
Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesisCatherine Dodé, Corinne Fouveaut, Geert Mortier, et al.Human Mutation|December 23, 2006
Italian Rett database and biobankKatia Sampieri, Ilaria Meloni, Elisa Scala, et al.Human Mutation|December 30, 2006
RPGR mutation analysis and disease: an updateXinhua Shu, Graeme C Black, Jacqueline M Rice, et al.Human Mutation|August 7, 2007
Rapid identification of disease-causing mutations using copy number analysis within linkage intervalsFatih Bayrakli, Kaya Bilguvar, Christopher E Mason, et al.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.Pageof 577