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42 results on '"Planas-Serra, L."'

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1. Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia

2. Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection

3. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

4. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

5. Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males

6. Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males

7. Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

9. Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

10. Auto-antibodies against type I IFNs in patients with life-threatening COVID-19

11. X-linked recessive TLR7 deficiency in similar to 1% of men under 60 years old with life-threatening COVID-19

12. Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

13. Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males

14. X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19

15. Autoantibodies against type I IFNs in patients with life-threatening COVID-19

16. X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19

17. Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

18. Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

19. Epigenome-wide association study of COVID-19 severity with respiratory failure

20. Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia.

22. Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.

23. ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.

24. RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia.

25. Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity.

26. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.

27. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.

28. Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.

29. Activating cannabinoid receptor 2 preserves axonal health through GSK-3β/NRF2 axis in adrenoleukodystrophy.

30. Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C): A multicenter, retrospective study.

31. Accelerated biological aging in COVID-19 patients.

32. Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.

33. Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.

34. X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.

35. Neutralizing Autoantibodies to Type I IFNs in >10% of Patients with Severe COVID-19 Pneumonia Hospitalized in Madrid, Spain.

36. Epigenome-wide association study of COVID-19 severity with respiratory failure.

37. Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males.

38. Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.

40. Case Report: Benign Infantile Seizures Temporally Associated With COVID-19.

41. HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.

42. A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases.

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