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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

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

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

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

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

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

17. Re-focusing on Agnathia-Otocephaly complex

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

21. ATP8A2-related disorders as recessive cerebellar ataxia

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

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

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

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

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

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

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

32. The curricular design by competences

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

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

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

36. Implication of non-coding PAX6 mutations in aniridia

38. The teaching of history through histories

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

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

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

43. Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

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

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

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

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