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199 results on '"Balcells S"'

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1. La variante missense rs2908004 de WNT16 actúa como eQTL de FAM3C en osteoblastos primarios humanos

2. Búsqueda de variantes del gen LRP4 en mujeres con alta masa ósea y en pacientes con malformación de Chiari tipo I

3. Estudios funcionales de variantes de DKK1 presentes en la población general

4. Estudio genético de la fractura femoral atípica mediante la secuenciación del exoma en tres hermanas afectas y tres pacientes no relacionadas

5. Identificación de variantes genéticas asociadas con la densidad mineral ósea (DMO) en el gen FLJ42280

6. Estudio del patrón de expresión de microRNAs en el hueso osteoporótico

7. SNPs en el 3’UTR de gen RANK determinan la fractura osteoporótica sitio-dependiente

9. Wnt Pathway Extracellular Components and Their Essential Roles in Bone Homeostasis

11. CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts

13. Clinical description and genetic analysis of a novel familial skeletal dysplasia characterized by high bone mass and lucent bone lesions

14. Adaptation, psychometric properties and factor structure of the Spanish Quality in Psychiatric Care-Outpatient Staff (QPC-OPS) instrument

16. Gene Network of Susceptibility to Atypical Femoral Fractures Related to Bisphosphonate Treatment

17. Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder

18. A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders

19. Human oocyte meiotic maturation is associated with a specific profile of alternatively spliced transcript isoforms

20. Functional Analyses of Four CYP1A1 Missense Mutations Present in Patients with Atypical Femoral Fractures

21. A Spanish adaptation of the Quality in Psychiatric Care-Inpatient (QPC-IP) instrument: Psychometric properties and factor structure

25. Bone development and remodeling in metabolic disorders

26. Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies

28. Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients

29. Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

30. DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients

31. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

33. Case report of a child bearing a novel deleterious splicing variant in PIGT

34. Functional characterization of the C7ORF76 genomic region, a prominent GWAS signal for osteoporosis in 7q21.3

35. Genetic study of atypical femoral fractures using exome sequencing in three affected sisters and three unrelated patients

36. Functional studies of DKK1 variants present in the general population

39. Functional Characterization of a GGPPS Variant Identified in Atypical Femoral Fracture Patients and Delineation of the Role of GGPPS in Bone-Relevant Cell Types

40. Expression profiling of microRNAs in human bone tissue from postmenopausal women

42. A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome

43. Functional Characterization of a GGPPS Variant Identified in Atypical Femoral Fracture Patients and Delineation of the Role of GGPPS in Bone-Relevant Cell Types

44. Psychometric properties of instruments measuring quality and satisfaction in mental health: A systematic review

45. Pro-osteoporotic miR-320a impairs osteoblast function and induces oxidative stress

47. New genetic loci link adipose and insulin biology to body fat distribution

48. A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes

49. Identificación de variantes genéticas asociadas con la densidad mineral ósea (DMO) en el gen FLJ42280

50. Identificación de variantes genéticas asociadas con la densidad mineral ósea (DMO) en el gen FLJ42280

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