35 results on '"Baris-Feldman, Hagit"'
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2. Telemedicine Versus Traditional In-Person Consultations: Comparison of Patient Satisfaction Rates
3. Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis
4. High prevalence of MUTYH associated polyposis among minority populations in Israel, due to rare founder pathogenic variants
5. LMF1-associated Chylomicronemia Syndrome
6. Utility of genetic testing in children with leukodystrophy
7. Special issue: the genetics of early onset inflammatory bowel disease (IBD) and diarrheal disorders
8. Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency
9. Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels
10. Utility of Genetic Testing in Children with Leukodystrophy
11. Upgrading an intronic TMEM67 variant of unknown significance to likely pathogenic through RNA studies and community data sharing
12. Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison Exon
13. Non‐immune hydrops fetalis caused by PIEZO1 compound heterozygous deletions detected only by exome sequencing
14. CD55-deficiency in Jews of Bukharan descent is caused by the Cromer blood type Dr(a−) variant
15. Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity
16. The risk of COVID-19 death is much greater and age-dependent with type I IFN autoantibodies
17. Experts’ views on COVID‐19 vaccination and the impact of the pandemic on patients with Gaucher disease
18. A Novel Homozygous In-Frame Deletion in Complement Factor 3 Underlies Early-Onset Autosomal Recessive Atypical Hemolytic Uremic Syndrome - Case Report
19. A recurrent pathogenic BRCA2 exon 5–11 duplication in the Christian Arab population in Israel
20. RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function
21. A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes
22. Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group
23. Eculizumab-Responsive Adult Onset Protein Losing Enteropathy, Caused by Germline CD55-Deficiency and Complicated by Aggressive Angiosarcoma
24. Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice
25. A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1
26. Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness geneATOH1
27. Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness geneATOH1
28. Prenatal clubfoot increases the risk for clinically significant chromosomal microarray results – Analysis of 269 singleton pregnancies
29. Tu1225 MUTYH ASSOCIATED POLYPOSIS IN THE NON-JEWISH POPULATION IN NORTHER ISRAEL
30. Delineating D409H (D448H) homozygous phenotype-genotype in an international cohort of the International Collaborative Gaucher Group Gaucher Registry: Cardiac involvement and early mortality
31. The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis
32. Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype
33. A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes
34. Eculizumab Is Safe and Effective as a Long-term Treatment for Protein-losing Enteropathy Due to CD55 Deficiency
35. Clinical diversity of MYH7 ‐related cardiomyopathies: Insights into genotype–phenotype correlations
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