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Human Mutation|May 26, 1998
Rapid, efficient method for multiplex amplification from filter paperM Caggana, J M Conroy, K A PassHuman Mutation|May 29, 1998
Molecular basis of type III hyperlipoproteinemia in GermanyG Feussner, V Feussner, M M Hoffmann, et al.Human Mutation|May 29, 1998
W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosisE Petroulakis, Z Cao, J T Clarke, et al.Human Mutation|April 29, 1998
Seven novel mutations in mut methylmalonic aciduriaC E Adjalla, A R Hosack, B M Gilfix, et al.Human Mutation|April 29, 1998
Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson diseaseE K Kim, O J Yoo, K Y Song, et al.Human Mutation|April 29, 1998
Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma geneP Höglund, S Haila, K H Gustavson, et al.Human Mutation|April 29, 1998
A novel single basepair insertion in exon 6 of the Bruton's tyrosine kinase (Btk) gene from a Japanese X-linked agammaglobulinemia patient with growth hormone insufficiencyK Abo, H Nishio, M J Lee, et al.Human Mutation|July 21, 2016
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency SyndromeHeleen M van der Klift, Arjen R Mensenkamp, Mark Drost, et al.Human Mutation|July 27, 2016
Three-Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence-Structure Analysis of its Disease-Causing VariationsLouise A Metherell, José Afonso Guerra-Assunção, Michael J Sternberg, et al.Human Mutation|April 28, 2015
An Interdomain KCNH2 Mutation Produces an Intermediate Long QT SyndromeMarika L Osterbur, Renjian Zheng, Robert Marion, et al.Pageof 576