11 results on '"Malcolm, Sue"'
Search Results
2. IsK and KvLQT1: Mutation in Either of the Two Subunits of the Slow Component of the Delayed Rectifier Potassium Channel Can Cause Jervell and Lange-Nielsen Syndrome.
3. The Oral-Facial-Digital Syndrome Type 1 (OFD1), a Cause of Polycystic Kidney Disease and Associated Malformations, Maps to Xp22.2-Xp22.3.
4. Mapping of DFN2 to Xq22.
5. Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of Ihromosome 7 using four cases with apparently balanced translocations at 7p21.2.
6. Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11–q13): molecular diagnosis and mechanism of uniparental disomy.
7. An 8-bp deletion in exon B of the iduronate-2-sulphatase gene in a case of Hunter disease.
8. Mutation analysis in patients with the typical form of Anderson — Fabry disease.
9. Genetic linkage analysis identifies new proximal and distal flanking markers for the X-linked agammaglobulinemia gene locus, refining its localization in Xq22.
10. A G to T mutation at a splice site in a case of Pelizaeus—Merzbacher disease.
11. Novel mutation affecting a splice site in exon 4 of the ornithine carbamoyl transferase gene.
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.