448 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. Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance
5. Severe early-onset Wilson disease caused by a common pathogenic variant in the Bukharan Jewish population in Israel
6. Molecular functions of MCM8 and MCM9 and their associated pathologies
7. 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
8. Phenotypic diversity among juvenile polyposis syndrome patients from different ethnic background
9. In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease
10. Genetic testing for assessment of lynch syndrome in young patients with polyps
11. Autosomal Recessive Rod–Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in BBS9
12. A POT1 Founder Variant Associated with Early Onset Recurrent Melanoma and Various Solid Malignancies
13. Double heterozygotes of BRCA1/BRCA2 and mismatch repair gene pathogenic variants: case series and clinical implications
14. Characterization of splice-altering mutations in inherited predisposition to cancer
15. Age at diagnosis of cancer in 185delAG BRCA1 mutation carriers of diverse ethnicities: tentative evidence for modifier factors
16. Comprehensive analysis of constitutional mismatch repair deficiency‐associated non‐Hodgkin lymphomas in a global cohort.
17. Solanum pennellii (LA5240) backcross inbred lines (BILs) for high resolution mapping in tomato.
18. Teaching clinicians practical genomic medicine: 7 years’ experience in a tertiary care center
19. The Diagnostic Yield and Implications of Targeted Founder Pathogenic Variant Testing in an Israeli Cohort
20. Expanding the spectrum of white matter abnormalities in Wolfram syndrome: A retrospective review of six cases
21. MCM9 is associated with germline predisposition to early-onset cancer—clinical evidence
22. Diagnostic yield of multigene panel testing in an Israeli cohort: enrichment of low-penetrance variants
23. An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome
24. The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients
25. Endoscopic findings and esophageal cancer incidence among Fanconi Anemia patients participating in an endoscopic surveillance program
26. A novel RYR1 pathogenic variant − Common among Libyan Jews and associated with a broad phenotypic spectrum
27. The rare 13q33–q34 microdeletions: eight new patients and review of the literature
28. The yield of full BRCA1/2 genotyping in Israeli high-risk breast/ovarian cancer patients who do not carry the predominant mutations
29. High prevalence of MUTYH associated polyposis among minority populations in Israel, due to rare founder pathogenic variants
30. Cesarean Scar Niche, Fertility And Uterine Rupture During Labor - A Retrospective Study
31. The benefit of pancreatic cancer surveillance in carriers of germline BRCA1/2 pathogenic variants.
32. P079: A recurrent POT1 germline variant associated with early onset malignant melanoma, desmoid tumor and other malignancies
33. Prenatal microarray analysis in right aortic arch—a retrospective cohort study and review of the literature
34. Possible biallelic inheritance in TIE1 in a family with congenital lymphedema, intestinal lymphangiectasia and cutis aplasia
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. Abstract P3-05-59: ER+ HER2-negative mBRCA1/2 carriers breast cancer patients (n=81): Clinical outcomes and molecular characterization via the 21-gene Breast Recurrence Score (RS) test vs the general RS-tested population (799,986 samples)
37. 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
38. Prenatal microarray analysis in right aortic arch—a retrospective cohort study and review of the literature
39. Variable Features of Juvenile Polyposis Syndrome With Gastric Involvement Among Patients With a Large Genomic Deletion of BMPR1A
40. BRCA mutations detected by tumour next-generation sequencing in non-small cell lung cancer: impact on response to therapy and disease course
41. Correction to: The Toronto cognitive assessment (TorCA): normative data and validation to detect amnestic mild cognitive impairment
42. The Toronto Cognitive Assessment (TorCA): normative data and validation to detect amnestic mild cognitive impairment
43. Identifying Subtypes of Alzheimer’s Disease: An analysis of possible cognitive subgroups through the life span
44. Constitutional mismatch repair deficiency and Lynch syndrome among consecutive Arab Bedouins with colorectal cancer in Israel
45. Recurrent TP53 missense mutation in cancer patients of Arab descent
46. The virtual trigger room – a proof of concept
47. Vici syndrome in Israel: Clinical and molecular insights
48. Aggression and Agitation in Dementia
49. Germline MBD4 deficiency causes a multi-tumor predisposition syndrome
50. Germline MBD4 deficiency causes a multi-tumor predisposition syndrome
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