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206 results on '"Baldassarri M."'

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1. A first update on mapping the human genetic architecture of COVID-19

2. Whole-genome sequencing reveals host factors underlying critical COVID-19

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3. Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients

4. Mapping the human genetic architecture of COVID-19

5. Pathogen-sugar interactions revealed by universal saturation transfer analysis

6. Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study

7. Whole genome sequencing reveals host factors underlying critical Covid-19

8. Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes (Front. Oncol., (2021), 11, 10.3389/fonc.2021.649435)

9. New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing

10. Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations

11. Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes

12. Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility

13. Genetic mechanisms of critical illness in COVID-19

14. Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study

15. Protective role of a tmprss2 variant on severe covid-19 outcome in young males and elderly women

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

17. C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age

18. Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients

19. C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age

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

21. Protective role of a tmprss2 variant on severe covid-19 outcome in young males and elderly women

22. The 2019 and 2021 International Workshops on Alport Syndrome.

23. Natural history of KBG syndrome in a large European cohort

24. Identification of a Novel Pathogenic Variant in the NAGLU Gene in a Child with Neurodevelopmental Delay

25. Natural history of KBG syndrome in a large European cohort

26. An explainable model of host genetic interactions linked to COVID-19 severity

27. Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients

28. Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity

29. Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes

30. The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males

31. ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

32. Mapping the human genetic architecture of COVID-19

35. Clinical and molecular characterization of COVID-19 hospitalized patients

36. Genoa, Florence and the Mediterranean: New Perspectives on the Return to Gold in the 13th Century

37. I.S.Mu.L.T. Achilles tendon ruptures guidelines

39. CKAP2L mutation confirms the diagnosis of Filippi syndrome

40. Alport syndrome: impact of digenic inheritance in patients management

41. Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH)

42. Alport syndrome: impact of digenic inheritance in patients management

43. Interventi

44. Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gne syndrome

45. Storytelling of a coin collection by means of RTI images: the case of the Simoneschi Collection in Palazzo Blu

47. Telling the story of ancient coins by means of interactive RTI images visualization

50. FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor