21 results on '"Tamura D"'
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2. 406 Correlation of different XPAgene mutations with severe, intermediate, and mild clinical phenotypes in xeroderma pigmentosum patients
3. 404 RNA lariat debranching enzyme gene (DBR1) mutations in sabinas brittle hair syndrome form of trichothiodystrophy
4. Thyroid nodules in xeroderma pigmentosum patients: a feature of premature aging
5. Resuscitation of the Injured Patient with Polymerized Stroma-free Hemoglobin Does Not Produce Systemic or Pulmonary Hypertension
6. 151 Complex phenotypes in trichothiodystrophy patients with XPD (ERCC2)mutations
7. 150 Peripheral nervous system degeneration in patients with xeroderma pigmentosum
8. 574 A deep learning classifier for the analysis of tiger tail banding in trichothiodystrophy
9. your letters.
10. 266 Trichothiodystrophy, a multisystem disorder with early onset debilitating hip degeneration
11. 261 Assessment of readthrough of premature termination codons in xeroderma pigmentosum group C patients by real-time PCR and immunohistochemistry
12. 260 Precision medicine: Exome sequencing adds complexity to genotype/phenotype correlation
13. 107 Increased prevalence of thyroid nodules in xeroderma pigmentosum patients: A feature of premature aging
14. 106 XPCsplice site founder mutation in families with xeroderma pigmentosum from Dominican Republic and Honduras
15. P2.17-05 Feasibility Study of Adjuvant Chemotherapy with Carboplatin and Nab-Paclitaxel for Completely Resected NSCLC
16. 127 Digital droplet PCR assays for the detection of leukemia mutations in a xeroderma pigmentosum patient with mixed phenotype acute leukemia
17. 683 Induced DNA repair in xeroderma pigmentosum group C cells by readthrough of premature termination codons
18. 486 Higher levels of XPC protein expression in cells from XP-C patients with late onset of disease associated with missense or splice lariat mutations
19. 267 Deep phenotyping of patients with xeroderma pigmentosum and trichothiodystrophy
20. 402 Precision medicine intervention in xeroderma pigmentosum
21. 368 Influence of paternal alleles on clinical outcome in trichothiodsytrophy
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