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Human mutation

Showing results (151-160 of 6,540) with videos related to

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Human Mutation|September 5, 2003
RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from SpainBerta Campos, Orland Díez, Montserrat Domènech, et al.
Human Mutation|September 5, 2003
Mutational analysis of the AGL gene: five novel mutations in GSD III patientsS Lucchiari, M A Donati, D Melis, et al.
Human Mutation|September 5, 2003
The E148Q MEFV allele is not implicated in the development of familial Mediterranean feverDimitri Tchernitchko, Marie Legendre, Cécile Cazeneuve, et al.
Human Mutation|June 20, 2003
One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type BAli R Afzal, Steve Jeffery
Human Mutation|June 20, 2003
Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosisJulie D Sharp, Ruth B Wheeler, Keith A Parker, et al.
Human Mutation|June 20, 2003
Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rateMidori Mitui, Catarina Campbell, Gabriela Coutinho, et al.
Human Mutation|June 20, 2003
A phylogenetic approach to assessing the significance of missense mutations in disease genesM F Santibáñez Koref, R Gangeswaran, I P Santibáñez Koref, et al.
Human Mutation|June 20, 2003
Enhanced allele-specific PCR discrimination in SNP genotyping using 3' locked nucleic acid (LNA) primersDavid Latorra, Krista Campbell, Andreas Wolter, et al.
Human Mutation|August 26, 2003
Standardizing mutation nomenclature: why bother?Johan T den Dunnen, Mark H Paalman
Human Mutation|August 26, 2003
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism databaseGwenaëlle Collod-Béroud, Saga Le Bourdelles, Lesley Ades, et al.
Pageof 654

Showing results (151-160 of 6,540) with videos related to

Sort By:
Pageof 654
Human Mutation|September 5, 2003
RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from SpainBerta Campos, Orland Díez, Montserrat Domènech, et al.
Human Mutation|September 5, 2003
Mutational analysis of the AGL gene: five novel mutations in GSD III patientsS Lucchiari, M A Donati, D Melis, et al.
Human Mutation|September 5, 2003
The E148Q MEFV allele is not implicated in the development of familial Mediterranean feverDimitri Tchernitchko, Marie Legendre, Cécile Cazeneuve, et al.
Human Mutation|June 20, 2003
One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type BAli R Afzal, Steve Jeffery
Human Mutation|June 20, 2003
Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosisJulie D Sharp, Ruth B Wheeler, Keith A Parker, et al.
Human Mutation|June 20, 2003
Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rateMidori Mitui, Catarina Campbell, Gabriela Coutinho, et al.
Human Mutation|June 20, 2003
A phylogenetic approach to assessing the significance of missense mutations in disease genesM F Santibáñez Koref, R Gangeswaran, I P Santibáñez Koref, et al.
Human Mutation|June 20, 2003
Enhanced allele-specific PCR discrimination in SNP genotyping using 3' locked nucleic acid (LNA) primersDavid Latorra, Krista Campbell, Andreas Wolter, et al.
Human Mutation|August 26, 2003
Standardizing mutation nomenclature: why bother?Johan T den Dunnen, Mark H Paalman
Human Mutation|August 26, 2003
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism databaseGwenaëlle Collod-Béroud, Saga Le Bourdelles, Lesley Ades, et al.
Pageof 654