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621 results on '"Álvarez, Raquel"'

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1. If Youre Not Confused, Youre Not Paying Attention: Ochrobactrum Is Not Brucella.

3. Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder

4. Statistical analysis plan for the biomarker-guided intervention to prevent acute kidney injury after major surgery (BigpAK-2) study: An international randomised controlled multicentre trial

5. Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis

8. Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

9. De novo variants in DENND5B cause a neurodevelopmental disorder

10. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

11. The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

12. Considerations for reporting variants in novel candidate genes identified during clinical genomic testing

14. Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

15. Association between use of enhanced recovery after surgery protocols and postoperative complications after gastric surgery for cancer (POWER 4): a nationwide, prospective multicentre study

16. Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

17. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

18. Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

19. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

20. De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

21. Transfusion practice in patients receiving VV ECMO (PROTECMO): a prospective, multicentre, observational study

26. Experimental structure based drug design (SBDD) applications for anti‐leishmanial drugs: A paradigm shift?

28. The L125F MATE1 variant enriched in populations of Amerindian origin is associated with increased plasma levels of metformin and lactate

30. A Study on Exposure of Workers to the Risks Arising from Physical Agents in the Olive Sector in Andalusia (South Spain)

34. Detection under Privileged Information

36. Sentiment cascades in the 15M movement

37. The immunogenetic diversity of the HLA system in Mexico correlates with underlying population genetic structure

38. Application Transiency: Towards a Fair Trade of Personal Information for Application Services

40. Association between use of enhanced recovery after surgery protocols and postoperative complications after gastric surgery for cancer (POWER 4): a nationwide, prospective multicentre study

44. Vasopressin in Sepsis and Other Shock States: State of the Art.

47. Et aliorum quam plurimorum quorum numerum sola dei sciencia colligit. The holy relics linked to the official opening of the arca santa of the cathedral of oviedo (1075): remembrance of the forgotten

48. Prevention of cardiovascular events in Asian patients with ischaemic stroke at high risk of cerebral haemorrhage (PICASSO): a multicentre, randomised controlled trial

50. Remote Sensing for Sustainable Pistachio Cultivation and Improved Quality Traits Evaluation through Thermal and Non-Thermal UAV Vegetation Indices

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