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Human mutation

Showing results (1621-1630 of 5,734) with videos related to

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Human Mutation|April 16, 2005
Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiencyEsther M Maier, Bernhard Liebl, Wulf Röschinger, et al.
Human Mutation|April 16, 2005
TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclatureAlessandra Splendore, Roberto D Fanganiello, Cibele Masotti, et al.
Human Mutation|March 19, 2005
Polymorphism in the nuclear excision repair gene ERCC2/XPD: association between an exon 6-exon 10 haplotype and susceptibility to cutaneous basal cell carcinomaTracy Lovatt, Julie Alldersea, John T Lear, et al.
Human Mutation|September 15, 2004
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiencyVito Iacobazzi, Federica Invernizzi, Silvia Baratta, et al.
Human Mutation|September 15, 2004
A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidaseJani Saarela, Carina von Schantz, Leena Peltonen, et al.
Human Mutation|September 15, 2004
BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancerJae Hong Seo, Dae-Yeon Cho, Se-Hyun Ahn, et al.
Human Mutation|September 15, 2004
Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patientsOzgül M Alper, Lee-Jun C Wong, Suzanne Young, et al.
Human Mutation|August 10, 2004
Infevers: an evolving mutation database for auto-inflammatory syndromesIsabelle Touitou, Suzanne Lesage, Michael McDermott, et al.
Human Mutation|August 10, 2004
Possible gene dosage effect of glutathione-S-transferases on atopic asthma: using real-time PCR for quantification of GSTM1 and GSTT1 gene copy numbersCharlotte Brasch-Andersen, Lene Christiansen, Qihua Tan, et al.
Human Mutation|August 10, 2004
TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNALucia Susani, Alessandra Pangrazio, Cristina Sobacchi, et al.
Pageof 574

Showing results (1621-1630 of 5,734) with videos related to

Sort By:
Pageof 574
Human Mutation|April 16, 2005
Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiencyEsther M Maier, Bernhard Liebl, Wulf Röschinger, et al.
Human Mutation|April 16, 2005
TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclatureAlessandra Splendore, Roberto D Fanganiello, Cibele Masotti, et al.
Human Mutation|March 19, 2005
Polymorphism in the nuclear excision repair gene ERCC2/XPD: association between an exon 6-exon 10 haplotype and susceptibility to cutaneous basal cell carcinomaTracy Lovatt, Julie Alldersea, John T Lear, et al.
Human Mutation|September 15, 2004
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiencyVito Iacobazzi, Federica Invernizzi, Silvia Baratta, et al.
Human Mutation|September 15, 2004
A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidaseJani Saarela, Carina von Schantz, Leena Peltonen, et al.
Human Mutation|September 15, 2004
BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancerJae Hong Seo, Dae-Yeon Cho, Se-Hyun Ahn, et al.
Human Mutation|September 15, 2004
Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patientsOzgül M Alper, Lee-Jun C Wong, Suzanne Young, et al.
Human Mutation|August 10, 2004
Infevers: an evolving mutation database for auto-inflammatory syndromesIsabelle Touitou, Suzanne Lesage, Michael McDermott, et al.
Human Mutation|August 10, 2004
Possible gene dosage effect of glutathione-S-transferases on atopic asthma: using real-time PCR for quantification of GSTM1 and GSTT1 gene copy numbersCharlotte Brasch-Andersen, Lene Christiansen, Qihua Tan, et al.
Human Mutation|August 10, 2004
TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNALucia Susani, Alessandra Pangrazio, Cristina Sobacchi, et al.
Pageof 574