22 results on '"Ventruto, Valerio"'
Search Results
2. Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5
3. Heterozygosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2–q28 associated with ovarian dysfunction
4. Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity
5. Ocular signs associated with a rhodopsin mutation (Cys-167→Arg) in a family with autosomal dominant retinitis pigmentosa
6. MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions
7. Hemoglobin Lepore: Its significance for thalassemia and clinical manifestations
8. Hemoglobinopathies in Campania with particular reference to the rare and new types
9. H-Y Antigen: Expression in Human Subjects with the Testicular Feminization Syndrome
10. Congenital megaurethra in a fetus with Meckel syndrome and in a fetus with female pseudoermanphroditism. The first report of these occurrences.
11. Severe Myopia with Unusual Retinal Anomalies and Dandy-Walker Sequence in Two Sibs. A Distinct New Neuro-ocular Disorder.
12. A case of polimalformed fetus with a microdeletion of CTNNA3 gene.
13. Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.
14. Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa.
15. Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity.
16. Simultaneous occurrence of tetrasomy 21 and trisomy 8 in a patient with early blastic metamorphosis of chronic myeloproliferative disorder.
17. The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32.
18. Ocular signs associated with a rhodopsin mutation (Cys-167 → Arg) in a family with autosomal dominant retinitis pigmentosa.
19. A t(2;8) Balanced Translocation with Breakpoints Near the Human HOXD Complex Causes Mesomelic Dysplasia and Vertebral Defects
20. Congenital megaurethra in a fetus with Meckel syndrome and in a fetus with female pseudoermanphroditism. The first report of these occurrences.
21. MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.
22. Mapping of MRX81 in Xp11.2-Xq12 suggests the presence of a new gene involved in nonspecific X-linked mental retardation.
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