Human mutation - JoVE Visualize

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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.

Human Mutation|August 10, 2004

Identification of APC gene mutations in colorectal cancer using universal microarray-based combinatorial sequencing-by-hybridizationShannon Cowie, Snezana Drmanac, Donald Swanson, et al.

Human Mutation|June 29, 2004

Effect of the codon 72 polymorphism (c.215G>C, p.Arg72Pro) in combination with somatic sequence variants in the TP53 gene on survival in patients with advanced ovarian carcinomaYun Wang, Pedro Kringen, Gunnar B Kristensen, et al.

Human Mutation|June 29, 2004

Novel MC1R variants in Ligurian melanoma patients and controlsLorenza Pastorino, Roberto Cusano, William Bruno, et al.

Human Mutation|June 29, 2004

Maternal MTHFR variant forms increase the risk in offspring of isolated nonsyndromic cleft lip with or without cleft palateF Pezzetti, M Martinelli, L Scapoli, et al.

Human Mutation|April 27, 2004

Approaches for analyzing human mutations and nucleotide sequence variation: a report from the Seventh International Mutation Detection meeting, 2003Ann-Christine Syvänen, Graham R Taylor

Human Mutation|April 27, 2004

An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id)Jonas Denecke, Christian Kranz, Dirk Kemming, et al.

Pageof 582

Showing results (1651-1660 of 5,820) with videos related to

Sort By:

Pageof 582

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.

Human Mutation|August 10, 2004

Identification of APC gene mutations in colorectal cancer using universal microarray-based combinatorial sequencing-by-hybridizationShannon Cowie, Snezana Drmanac, Donald Swanson, et al.

Human Mutation|June 29, 2004

Effect of the codon 72 polymorphism (c.215G>C, p.Arg72Pro) in combination with somatic sequence variants in the TP53 gene on survival in patients with advanced ovarian carcinomaYun Wang, Pedro Kringen, Gunnar B Kristensen, et al.

Human Mutation|June 29, 2004

Novel MC1R variants in Ligurian melanoma patients and controlsLorenza Pastorino, Roberto Cusano, William Bruno, et al.

Human Mutation|June 29, 2004

Maternal MTHFR variant forms increase the risk in offspring of isolated nonsyndromic cleft lip with or without cleft palateF Pezzetti, M Martinelli, L Scapoli, et al.

Human Mutation|April 27, 2004

Approaches for analyzing human mutations and nucleotide sequence variation: a report from the Seventh International Mutation Detection meeting, 2003Ann-Christine Syvänen, Graham R Taylor

Human Mutation|April 27, 2004

An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id)Jonas Denecke, Christian Kranz, Dirk Kemming, et al.

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