18 results on '"Calvas P"'
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2. FOXE3mutations: genotype-phenotype correlations
3. Genetics in microphthalmia
4. Specific gene in microphthalmia
5. Syndromic manifestations in aniridia patients with PAX6 point mutations
6. CL1R2 antibody, as well as Bevacizumab, promotes the regression of pathologic retinal neovascularisation in Vldlr knockout mice
7. Mutation analysis of theSTRA6gene in isolated and non-isolated anophthalmia/microphthalmia
8. Whole exome sequencing identifies a mutation for a novel form of hereditary benign intraepithelial dyskeratosis
9. X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings
10. NovelB3GALTLmutation in Peters-plus Syndrome
11. Confirmation of RAX gene involvement in human anophthalmia
12. Molecular characterization of a cryptic 2q37 deletion in a patient with Albright hereditary osteodystrophy‐like phenotype
13. Prenatal diagnosis of a lethal form of Netherton syndrome bySPINK5 mutation analysis
14. PRENATAL DIAGNOSIS IN CONGENITAL ERYTHROPOIETIC PORPHYRIA BY METABOLIC MEASUREMENT AND DNA MUTATION ANALYSIS
15. Relationship between chimpanzee Rh‐like genes and the R‐C‐E‐F blood group system
16. Maternal serum alpha‐fetoprotein and fetal sex
17. V-shaped hyperpigmented linear lesions, patchy hypotrichosis, and teeth abnormalities in a young girl.
18. Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis.
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