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242 results on '"Calvas P"'

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1. Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development

2. Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development

3. Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta

7. Hoehn and Yahr Stage and Striatal Dat-SPECT Uptake Are Predictors of Parkinson’s Disease Motor Progression

8. A Phase II Study to Evaluate the Safety and Efficacy of Prasinezumab in Early Parkinson's Disease (PASADENA): Rationale, Design, and Baseline Data

9. Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach

10. Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach

12. Reformas curriculares en el área de Ciencias Sociales de la Educación Básica Superior en Ecuador

15. Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

16. Hoehn and Yahr Stage and Striatal Dat-SPECT Uptake Are Predictors of Parkinson’s Disease Motor Progression

17. A Phase II Study to Evaluate the Safety and Efficacy of Prasinezumab in Early Parkinson's Disease (PASADENA): Rationale, Design, and Baseline Data

18. Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders

19. Fundamentos filosóficos de la historia local en las ciencias sociales educación básica superior

20. LAS COMPETENCIAS PARA LA GESTIÓN CIENTÍFICO-PEDAGÓGICA DEL PROFESIONAL DE LA EDUCACIÓN

22. Searching for secondary findings: considering actionability and preserving the right not to know

23. Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

26. The curricular design by competences

27. Reflections on a strategy to teach geography in Basic Education of Ecuador

28. Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule

29. Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

30. Implication of non-coding PAX6 mutations in aniridia

31. The teaching of history through histories

32. Exploring venlafaxine pharmacokinetic variability with a phenotyping approach, a multicentric french-swiss study (MARVEL study)

33. Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders

34. Compositional diversity of rehabilitated tropical lands supports multiple ecosystem services and buffers uncertainties

36. The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement

37. Ecuadorian banana farms should consider organic banana with low price risks in their land-use portfolios.

39. Quality of DNA extracted from mouthwashes.

41. Bi-allelic variants in WNT7Bdisrupt the development of multiple organs in humans

48. Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis

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