31 results on '"Beneyto, Magdalena"'
Search Results
2. Putative association of a mutant ROM1 allele with retinitis pigmentosa
3. Attenuation of Disease Phenotype Through Alternative Translation Initiation in Low-Penetrance Retinoblastoma
4. Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families
5. A constitutional homozygous mutation in the RB1 gene in a patient with unilateral retinoblastoma
6. Screening for FMR1 mutations among the mentally retarded: prevalence of the fragile X syndrome in Spain
7. An autosomal dominant retinitis pigmentosa family with close linkage to D7S480 on 7q
8. Linkage analysis in Usher syndrome type I (USH1) families from Spain
9. A Common Ancestral Origin of the Frequent and Widespread 2299delG USH2A Mutation
10. Malformación de Arnold-Chiari en el síndrome de Noonan y otros síndromes de la vía RAS/MAPK
11. Microarray-Based Mutation Analysis of 183 Spanish Families with Usher Syndrome
12. Screening of theUSH1GGene among Spanish Patients with Usher Syndrome. Lack of Mutations and Evidence of a Minor Role in the Pathogenesis of the Syndrome
13. Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments
14. Mutations in the Pre-mRNA Splicing-Factor GenesPRPF3,PRPF8, andPRPF31in Spanish Families with Autosomal Dominant Retinitis Pigmentosa
15. Putative association of a mutant ROM1 allele with retinitis pigmentosa
16. Mutations in Myosin VIIA (MYO7A) and Usherin (USH2A) in Spanish patients with usher syndrome types I and II, respectively
17. Diagnóstico temprano del retinoblastoma: importancia de la búsqueda de mutaciones en el gen RB1
18. Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2)
19. Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa
20. Genetics of retinoblastoma: A study
21. Clinical and genetic aspects of two Spanish families with autosomal dominant retinitis pigmentosa (ADRP)
22. Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families
23. Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa
24. Chromosome 5 abnormalities in acute lymphoblastic leukemia
25. Gene localization in a family with X-linked syndromal mental retardation (Prieto syndrome)
26. Cytogenetic evidence of involvement of an early progenitor myeloid cell in 4;11 translocation-associated acute leukemia
27. Screening of the USH1G Gene among Spanish Patients with Usher Syndrome. Lack of Mutations and Evidence of a Minor Role in the Pathogenesis of the Syndrome.
28. 11q23 abnormalities in children with acute nonlymphocytic leukemia (M4–M5)
29. Prevalence of 2314delG mutation in Spanish patients with Ushersyndrome type II (USH2).
30. [Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway]
31. Retinoblastoma: implicaciones del estudio genético-molecular
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.