24 results on '"McKeown, Carole"'
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2. Biddy Davidson Bourhill
3. Iron overload in the Asian community
4. PPIB mutations cause severe osteogenesis imperfecta
5. A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)
6. Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation
7. Mosaic trisomy 1q: The longest surviving case
8. Familial multiple pterygium syndrome (MPS) is not associated with CHRNG gene mutation
9. PMS2 Mutations in Childhood Cancer
10. Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition
11. Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3
12. Parents' responses to predictive genetic testing in their children: report of a single case study
13. Examination Of Fetuses After Induced Abortion For Fetal Abnormality
14. FG syndrome, an X-linked multiple congenital anomaly syndrome: The clinical phenotype and an algorithm for diagnostic testing
15. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
16. The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat
17. An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function
18. Joint and skin laxity with Dandy-Walker malformation and contractures: a distinct recessive syndrome?
19. Mutations in the human Delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis
20. Detection of an Atypical 22q11 Deletion That Has No Overlap with the DiGeorge Syndrome Critical Region
21. Molecular cytogenetics of Prader-Willi and Angelman syndromes
22. Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer.
23. An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function.
24. DIPLOID/TRIPLOID MIXOPLOIDY AND HYPOMELANOSIS OF ITO
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