50 results on '"Balcells, Susanna"'
Search Results
2. Evolutionary and functional analyses of LRP5 in archaic and extant modern humans
3. Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review
4. Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures
5. Clinical description and genetic analysis of a novel familial skeletal dysplasia characterized by high bone mass and lucent bone lesions
6. On the association between Chiari malformation type 1, bone mineral density and bone related genes
7. Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder
8. Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome.
9. Subcellular localization of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome
10. Expanding the phenotypic spectrum of TRAF7 syndrome: report of eleven new cases and literature review
11. DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients
12. Functional characterization of the C7ORF76 genomic region, a prominent GWAS signal for osteoporosis in 7q21.3
13. Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum
14. Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients
15. Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2
16. Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.
17. On the association between Chiari malformation type 1, bone mineral density and bone related genes
18. Genetic analysis in a familial case with high bone mineral density suggests additive effects at two loci
19. Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases
20. CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts
21. Genome-wide association studies (GWAS) vs functional validation: the challenge of the post-GWAS era.
22. Estudios de asociación de genoma completo (GWAS) versus validación funcional: reto de la era post-GWAS.
23. Genetic Analysis in a Familial Case With High Bone Mineral Density Suggests Additive Effects at Two Loci
24. Gene Network of Susceptibility to Atypical Femoral Fractures Related to Bisphosphonate Treatment
25. Wnt Pathway Extracellular Components and Their Essential Roles in Bone Homeostasis
26. Author response for 'Genetic Analysis in a Familial Case With High Bone Mineral Density Suggests Additive Effects at Two Loci'
27. Perspective of the GEMSTONE Consortium on Current and Future Approaches to Functional Validation for Skeletal Genetic Disease Using Cellular, Molecular and Animal-Modeling Techniques
28. A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders
29. Human oocyte meiotic maturation is associated with a specific profile of alternatively spliced transcript isoforms
30. Functional Analyses of Four CYP1A1 Missense Mutations Present in Patients with Atypical Femoral Fractures
31. Functional characterization of CYP1A1 variants identified in patients who sustained bisphosphonate-related atypical femoral fractures
32. De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family
33. Genetics and Genomics of SOST: Functional Analysis of Variants and Genomic Regulation in Osteoblasts
34. Additional file 1 of Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum
35. Functional Assessment of Coding and Regulatory Variants From theDKK1Locus
36. Functional assessment of coding and regulatory variants from the DKK1 locus
37. Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity
38. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
39. Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder
40. Effect of the Tumor Suppressor miR-320a on Viability and Functionality of Human Osteosarcoma Cell Lines Compared to Primary Osteoblasts
41. Extending the phenotypic spectrum of Bohring‐Opitz syndrome: Mild case confirmed by functional studies
42. Evolutionary and functional analyses of LRP5in archaic and extant modern humans
43. Bone development and remodeling in metabolic disorders
44. Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients
45. DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients
46. C syndrome - what do we know and what could the future hold?
47. Bone development and remodeling in metabolic disorders.
48. Extending the phenotypic spectrum of Bohring‐Opitz syndrome: Mild case confirmed by functional studies.
49. Estudio de biomarcadores celulares para la implementación de terapias personalizadas en Fibrosis Quística
50. Combining exome sequencing and functional studies to identify causal genes of ultra-rare neurodevelopmental disorders
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