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2. Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly

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

5. Evaluating the efficacy and safety of pozelimab in patients with CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy disease: an open-label phase 2 and 3 study

6. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders

7. Expanded targeted preconception screening panel in Israel: findings and insights.

9. Evaluating the efficacy and safety of pozelimab in patients with CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy disease: an open-label phase 2 and 3 study

10. Heterozygous loss-of function variants in DOCK4 cause neurodevelopmental delay and microcephaly

11. Two separate functions of NME3 critical for cell survival underlie a neurodegenerative disorder

12. The National Autism Database of Israel: a Resource for Studying Autism Risk Factors, Biomarkers, Outcome Measures, and Treatment Efficacy

13. Diagnostic yield of multigene panel testing in an Israeli cohort: enrichment of low-penetrance variants

14. The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients

16. 25 A phase 2/3 study evaluating the efficacy and safety of pozelimab in patients with CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE disease)

17. Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management.

18. Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis.

20. The Clinical and Biological Landscape of Constitutional Mismatch Repair Deficiency: An IRRDC Study

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

22. Decoding the Human Genetic and Immunological Basis of COVID-19 mRNA Vaccine-Induced Myocarditis

23. Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

24. Human genetic and immunological determinants of critical COVID-19 pneumonia

25. A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection

26. Author Correction: A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection (Nature Immunology, (2022), 23, 2, (159-164), 10.1038/s41590-021-01030-z)

27. Studying severe long COVID to understand post-infectious disorders beyond COVID-19

28. The risk of COVID-19 death is much greater and age-dependent with type I IFN autoantibodies

29. eP345: Community data-driven approach for generating cross-ethnic population carrier screening panel

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

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

33. Pathogenic variants inSMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

35. Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group.

36. Pathogenic variants inSMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

37. Individual patient responses to eliglustat in treatment-naïve adults with Gaucher disease type 1: Final data from the phase 3 ENGAGE trial

38. Non-immune Hemolysis in Gaucher Disease and Review of the Literature.

40. Two separate functions of NME3 critical for cell survival underlie a neurodegenerative disorder

41. Mutations In PIK3C2A Cause Syndromic Short Stature, Skeletal Abnormalities, and Cataracts Associated With Ciliary Dysfunction

42. Rambam Health Care Campus Research Day Organizing Committee

43. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders

44. Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype.

45. Gaucher disease.

46. Long-term results of ENGAGE: a phase 3, randomized, double‑blind, placebo-controlled, multi‑center study investigating the efficacy and safety of eliglustat in adults with type 1 Gaucher disease

47. Two separate functions of NME3 critical for cell survival underlie a neurodegenerative disorder.

48. Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features.

50. Long-Read Structural and Epigenetic Profiling of a Kidney Tumor-Matched Sample with Nanopore Sequencing and Optical Genome Mapping.

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