12 results on '"Wieskamp, Nienke"'
Search Results
2. Additional file 2 of Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications
3. Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder
4. Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia
5. Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy
6. Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders
7. Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder
8. Molecular Diagnosis of Usher Syndrome: Application of Two Different Next Generation Sequencing-Based Procedures
9. Cantú Syndrome Is Caused by Mutations in ABCC9
10. Accurate Distinction of Pathogenic from Benign CNVs in Mental Retardation
11. Molecular diagnosis of usher syndrome: application of two different next generation sequencing-based procedures
12. Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.