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3. Contribution of the TTC21B gene to glomerular and cystic kidney diseases

7. Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis‐like phenotypes

10. A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.

12. Isolated prolapse of the posterior mitral valve leaflet: phenotypic refinement, heritability and genetic etiology.

13. Clinical Exome Sequencing unravels new disease-causing mutations in the myeloproliferative neoplasms: A pilot study in patients from the state of Qatar.

14. Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.

15. Clinical exome sequencing: results from 2819 samples reflecting 1000 families.

16. A comprehensive global genotype-phenotype database for rare diseases.

18. Whole Exome Sequencing in a Rare Disease: A Patient with Anomalous Left Coronary Artery from the Pulmonary Artery (Bland-White-Garland Syndrome).

19. Mutations in DCHS1 cause mitral valve prolapse.

20. Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.

21. Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.

22. Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer.

23. Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism.

24. Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.

25. Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing.

26. KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron.

27. Long noncoding RNAs, chromatin, and development.

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