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2. Arterial tortuosity syndrome: 40 new families and literature review

3. Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

7. Correction: Arterial tortuosity syndrome: 40 new families and literature review

8. Somatic CAG repeat instability in intermediate alleles of the HTTgene and its potential association with a clinical phenotype

10. Clinical and genetic characteristics of late-onset Huntington's disease

14. Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2

15. Genotype–phenotype analysis in patients with giant axonal neuropathy (GAN)

16. Cognitive decline in Huntington's disease expansion gene carriers

17. A Comparative Phenotypic Study of Kallmann Syndrome Patients Carrying Monoallelic and Biallelic Mutations in the Prokineticin 2 or Prokineticin Receptor 2 Genes

19. Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study

22. MOESM1 of Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain)

25. New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐ positive patients

29. Correction: Arterial tortuosity syndrome: 40 new families and literature review

31. NGS mapped breakpoints in balanced chromosomal rearrangements including the first large cohort of healthy carriers

32. Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1

33. Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

34. Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia

35. Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

37. The role of mitochondrial DNA in Huntington’s disease

40. Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2

41. Discrepancies in reporting the CAG repeat lengths for Huntington's disease.

42. Discrepancies in reporting the CAG repeat lengths for Huntington's disease

43. Huntington's disease in venezuela: 7 years of follow-up on symptomatic and asymptomatic individuals

44. Analysis of the molecular parameters that could predict the risk of manifesting premature ovarian failure in female premutation carriers of fragile X syndrome

46. Huntington's disease in venezuela: 7 years of follow-up on symptomatic and asymptomatic individuals

48. Huntington's disease in Venezuela.

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