Showing results (1041-1050 of 5,815) with videos related to
Sort By:
Pageof 582
Human Mutation|January 1, 1993
Detection of polymorphisms using thermal cycling with a single oligonucleotide on a DNA sequencing gelV Murray, C Monchawin, M J Cairns, et al.Human Mutation|January 1, 1993
Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original familiesT Fukao, S Yamaguchi, C R Scriver, et al.Human Mutation|January 1, 1994
Non-phenylketonuria hyperphenylalaninaemia in Northern Ireland: frequent mutation allows screening and early diagnosisJ Zschocke, C A Graham, F J Stewart, et al.Human Mutation|January 1, 1994
Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II)W Schröder, K Wulff, M Wehnert, et al.Human Mutation|January 1, 1994
Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 geneM Upadhyaya, D J Shaw, P S HarperHuman Mutation|April 5, 2002
Determining sequence length or content in zero, one, and two dimensionsMark W Perlin, Beata SzabadyHuman Mutation|April 5, 2002
Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 geneGábor Mátyás, Anne De Paepe, Dorothy Halliday, et al.Human Mutation|April 5, 2002
The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher diseaseE Orvisky, J K Park, A Parker, et al.Human Mutation|April 5, 2002
A BRCA1 mutation in Native North American familiesAlexander Liede, Elaine Jack, Robert A Hegele, et al.Human Mutation|April 23, 2002
Mutations of RPGR in X-linked retinitis pigmentosa (RP3)Raf Vervoort, Alan F WrightPageof 582