287 results on '"Goldberg, Yael"'
Search Results
2. Central nervous system metastases in breast cancer patients with germline BRCA pathogenic variants compared to non-carriers: a matched-pair analysis
3. Ordering genetic testing by neurologists: points to consider
4. Severe early-onset Wilson disease caused by a common pathogenic variant in the Bukharan Jewish population in Israel
5. Molecular functions of MCM8 and MCM9 and their associated pathologies
6. Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database
7. Phenotypic diversity among juvenile polyposis syndrome patients from different ethnic background
8. In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease
9. Genetic testing for assessment of lynch syndrome in young patients with polyps
10. Double heterozygotes of BRCA1/BRCA2 and mismatch repair gene pathogenic variants: case series and clinical implications
11. Characterization of splice-altering mutations in inherited predisposition to cancer
12. Age at diagnosis of cancer in 185delAG BRCA1 mutation carriers of diverse ethnicities: tentative evidence for modifier factors
13. Comprehensive analysis of constitutional mismatch repair deficiency‐associated non‐Hodgkin lymphomas in a global cohort.
14. Solanum pennellii (LA5240) backcross inbred lines (BILs) for high resolution mapping in tomato.
15. Teaching clinicians practical genomic medicine: 7 years’ experience in a tertiary care center
16. MCM9 is associated with germline predisposition to early-onset cancer—clinical evidence
17. Diagnostic yield of multigene panel testing in an Israeli cohort: enrichment of low-penetrance variants
18. An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome
19. The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients
20. Endoscopic findings and esophageal cancer incidence among Fanconi Anemia patients participating in an endoscopic surveillance program
21. A POT1 Founder Variant Associated with Early Onset Recurrent Melanoma and Various Solid Malignancies.
22. A novel RYR1 pathogenic variant − Common among Libyan Jews and associated with a broad phenotypic spectrum
23. The rare 13q33–q34 microdeletions: eight new patients and review of the literature
24. The yield of full BRCA1/2 genotyping in Israeli high-risk breast/ovarian cancer patients who do not carry the predominant mutations
25. The benefit of pancreatic cancer surveillance in carriers of germline BRCA1/2 pathogenic variants.
26. P079: A recurrent POT1 germline variant associated with early onset malignant melanoma, desmoid tumor and other malignancies
27. Prenatal microarray analysis in right aortic arch—a retrospective cohort study and review of the literature
28. Variable Features of Juvenile Polyposis Syndrome With Gastric Involvement Among Patients With a Large Genomic Deletion of BMPR1A
29. Correction to: The Toronto cognitive assessment (TorCA): normative data and validation to detect amnestic mild cognitive impairment
30. The Toronto Cognitive Assessment (TorCA): normative data and validation to detect amnestic mild cognitive impairment
31. Constitutional mismatch repair deficiency and Lynch syndrome among consecutive Arab Bedouins with colorectal cancer in Israel
32. Recurrent TP53 missense mutation in cancer patients of Arab descent
33. Aggression and Agitation in Dementia
34. High prevalence of MUTYH associated polyposis among minority populations in Israel, due to rare founder pathogenic variants.
35. Correlations between pathogenic variants in DNA repair genes and anticancer treatment efficacy in stage IV non‐small cell lung cancer: A large real‐world cohort and review of the literature.
36. Positive Correlation Between Clearance of High-Risk Human Papillomavirus and Lack of Residual Disease After Loop Excision of the Transformation Zone in Early Stage Cervical Cancer
37. Oncotype Dx recurrence score among BRCA1/2 germline mutation carriers with hormone receptors positive breast cancer
38. Limbic response to psychosocial stress in schizotypy: A functional magnetic resonance imaging study
39. Lynch Syndrome in high risk Ashkenazi Jews in Israel
40. Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity
41. Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome.
42. Identifying Subtypes of Alzheimer's Disease: An analysis of possible cognitive subgroups through the life span.
43. Vici syndrome in Israel: Clinical and molecular insights.
44. Genetic predisposition to radiation induced sarcoma: possible role for BRCA and p53 mutations
45. Exploring the relationship between boredom and sustained attention
46. Clinical Characteristics and Prognosis of Gastric Cancer Patients with BRCA 1/2 Germline Mutations: Report of Ten Cases and a Literature Review
47. Two BRCA1/2 founder mutations in Jews of Sephardic origin
48. An Unusual Uterine Cavity Phenomenon
49. An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC
50. Gone with the wind? The potential tragedy of the common wind
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