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Human mutation

Showing results (1521-1530 of 5,734) with videos related to

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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.
Human Mutation|July 13, 2006
V(D)J recombinase mediated inter-chromosomal HPRT alterations at cryptic recombination signal sequences in peripheral human T cellsTerri L Messier, J Patrick O'Neill, Barry A Finette
Human Mutation|July 26, 2006
Human mtDNA site-specific variability values can act as haplogroup markersMatteo Accetturo, Monica Santamaria, Daniela Lascaro, et al.
Pageof 574

Showing results (1521-1530 of 5,734) with videos related to

Sort By:
Pageof 574
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.
Human Mutation|July 13, 2006
V(D)J recombinase mediated inter-chromosomal HPRT alterations at cryptic recombination signal sequences in peripheral human T cellsTerri L Messier, J Patrick O'Neill, Barry A Finette
Human Mutation|July 26, 2006
Human mtDNA site-specific variability values can act as haplogroup markersMatteo Accetturo, Monica Santamaria, Daniela Lascaro, et al.
Pageof 574