18 results on '"Letteboer, T."'
Search Results
2. The Validation of a Clinical Screening Instrument For Tumor Predisposition Syndromes in Childhood Cancer Patients (TUPS): A Prospective, Observational, Multi-Center Study
3. Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients
4. Is hereditary haemorrhagic telangiectasia rare in the black race? The first sub-Saharan mutation
5. SMAD4 mutations found in unselected HHT patients
6. Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia
7. Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele
8. Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers
9. Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline
10. Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype.
11. Is hereditary haemorrhagic telangiectasia rare in the black race? The first sub-Saharan mutation
12. LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.
13. Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia
14. Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients
15. Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline.
16. Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype.
17. LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.
18. Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis.
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