36 results on '"Larsen, L.A."'
Search Results
2. Evidence of gene–gene interaction in hidradenitis suppurativa: a nationwide registry study of Danish twins
3. Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease
4. High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease
5. Mapping of 5q35 chromosomal rearrangements within a genomically unstable region
6. S134 CLONAL HEMATOPOIESIS IN ELDERLY TWINS: CONCORDANCE, DISCORDANCE AND SURVIVAL
7. Matrix isolation mid- and far-infrared spectra of sulfuric acid and deuterated sulfuric acid vapors
8. Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis
9. The genetics of long QT syndrome: Mutation detecticn in 100 families
10. High Heritability of Liability to Abdominal Aortic Aneurysms: A Population Based Twin Study
11. Molecular Characterization of Two Patients With de novo Interstitial Deletions in 4q22–q24
12. T wave morphology analysis distinguishes between KvLQT1 and HERG mutations in long QT syndrome
13. Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency
14. Long QT syndrome with high mortality rate caused by a novel G572R missense mutation in KCNH2
15. Molecular Characterization of Two Patients With de novo Interstitial Deletions in 4q22–q24
16. Molecular characterization of two patients with de novo interstitial deletions in 4q22-q24.
17. Expression analyses of human cleft palate tissue suggest a role for osteopontin and immune related factors in palatal development
18. A homogeneous assay for analysis of FMR1 promoter methylation in patients with fragile X syndrome
19. YKL-40 protein expression in the early developing human musculoskeletal system
20. Single-strand conformation polymorphism analysis using capillary array electrophoresis for large-scale mutation detection
21. Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2
22. Fine mapping of a de novo interstitial 10q22–q23 duplication in a patient with congenital heart disease and microcephaly
23. Hedgehog signaling in small-cell lung cancer: Frequent in vivo but a rare event in vitro
24. Screening for fragilt X-syndrom. Internationale erfaringer
25. Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease
26. Optimization of capillary array electrophoresis single-strand conformation polymorphism analysis for routine molecular diagnostics
27. Mutations in the HERG K+-ion channel: a novel link between long QT syndrome and sudden infant death syndrome
28. Molekylärgenetik vid långt QT syndrom: Gener som orsaker svimning och plötslig död
29. Eponymous Jacobsen syndrome: Mapping the breakpoints of the original family suggests an association between the distal 1.1 Mb of chromosome 21 and osteoporosis in Down syndrome (Am J Med Genet 135A:339–341)
30. Eponymous Jacobsen syndrome: Mapping the breakpoints of the original family suggests an association between the distal 1.1 Mb of chromosome 21 and osteoporosis in Down syndrome
31. Recessive romano-ward syndrome associated with compound heterozygosity for two mutations in the KvLQT1 gene
32. Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome
33. Novel donor splice site mutation in the KvLQT1 gene is associated Long QT syndrome
34. Improving the Effectiveness of the Registered Dietitian in the Intensive Care Unit
35. Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome
36. Modelling of sulfuric acid and ammonium sulfate aerosol formation in the aerrea2 reactor
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