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40 results on '"Hagit, Baris-Feldman"'

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1. The d3GHR carrier epigenome in Druze clan longevity

2. Pozelimab for CHAPLE disease: results from in-trial interviews and clinical outcome assessments

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

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

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

7. Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels

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

9. Non-immune Hemolysis in Gaucher Disease and Review of the Literature Eliyakim Hershkop, Idan Bergman, Alina Kurolap, Najib Dally, and Hagit Baris Feld

10. A Novel Homozygous In-Frame Deletion in Complement Factor 3 Underlies Early-Onset Autosomal Recessive Atypical Hemolytic Uremic Syndrome - Case Report

11. A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes

13. Upgrading an intronic TMEM67 variant of unknown significance to likely pathogenic through RNA studies and community data sharing

14. CD55-deficiency in Jews of Bukharan descent is caused by the Cromer blood type Dr(a−) variant

15. Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency

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

17. Clinical outcomes after 4.5 years of eliglustat therapy for <scp>Gaucher</scp> disease type 1: Phase 3 <scp>ENGAGE</scp> trial final results

18. RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function

19. Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene<scp>ATOH1</scp>

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

21. A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4

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

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

24. Experts’ views on COVID‐19 vaccination and the impact of the pandemic on patients with Gaucher disease

25. Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity

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

27. RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function

28. A recurring

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

30. Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice

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

32. Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness geneATOH1

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

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

36. A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes

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

39. 548 Gastrointestinal (GI) Findings in Patients With Biallelic Mismatch Repair (BMMRD) Gene Deficiency Syndrome: Report From the International Consortium

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

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