Human mutation

HGV2009 meeting: bigger and better studies provide more answers and more questions.

Mutations in SOHLH1 gene associate with nonobstructive azoospermia.

Genomic variation in a global village: report of the 10th annual Human Genome Variation Meeting 2008.

Human mutation

Brookes AJ, Chanock SJ, Hudson TJ, Peltonen L, Abecasis G, Kwok PY, Scherer SW

Genomic variation in a global village: report of the 10th annual Human Genome Variation Meeting 2008.

Genetic variation in human aquaporins and effects on phenotypes of water homeostasis.

Human mutation

Sorani MD, Manley GT, Giacomini KM

Genetic variation in human aquaporins and effects on phenotypes of water homeostasis.

Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation.

Human mutation

Denayer E, Parret A, Chmara M, Schubbert S, Vogels A, Devriendt K, Frijns JP, Rybin V, de Ravel TJ, Shannon K, Cools J, Scheffzek K, Legius E

Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation.

Determination of haplotypes from single DNA molecules: a method for single-molecule barcoding.

Human mutation

Xiao M, Gordon MP, Phong A, Ha C, Chan TF, Cai D, Selvin PR, Kwok PY

Determination of haplotypes from single DNA molecules: a method for single-molecule barcoding.

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