23 results on '"Snyder, Pamela J."'
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2. Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype
3. Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family
4. Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation
5. Duplication of the Xq27.3–q28 region, including the FMR1 gene, in an X‐linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome
6. Evaluation of the Human Fragile X Mental Retardation 1 Polymerase Chain Reaction Reagents to Amplify theFMR1Gene: Testing in a Clinical Diagnostic Laboratory
7. Newborn and Carrier Screening for Spinal Muscular Atrophy
8. Phase II Clinical Trial of Sorafenib in Metastatic Medullary Thyroid Cancer
9. Newborn and carrier screening for spinal muscular atrophy
10. Sphingosine Kinase-1 Expression Correlates With Poor Survival of Patients With Glioblastoma Multiforme: Roles of Sphingosine Kinase Isoforms in Growth of Glioblastoma Cell Lines
11. Sphingosine-1-phosphate stimulates human glioma cell proliferation through Gi-coupled receptors: role of ERK MAP kinase and phosphatidylinositol 3-kinase β
12. Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2
13. Comparison of Cytogenetic and Molecular Genetic Detection of t(8;21) and inv(16) in a Prospective Series of Adults With De Novo Acute Myeloid Leukemia: A Cancer and Leukemia Group B Study
14. Nonsense mutations in a Becker muscular dystrophy and an intermediate patient
15. Nonsense mutations in a Becker muscular dystrophy and an intermediate patient
16. Germline mosaicism at the fragile X locus
17. Rapid DNA haplotyping using a multiplex heteroduplex approach: Application to duchenne muscular dystrophy carrier testing
18. Heteroduplex analysis of the dystrophin gene: Application to point mutation and carrier detection
19. Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16
20. A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient
21. Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation
22. Exon 44 nonsense mutation in two-duchenne muscular dystrophy brothers detected by heteroduplex analysis
23. Optimization of DNA Extraction from Formalin-Fixed Tissue and Its Clinical Application in Duchenne Muscular Dystrophy
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