220 results on '"Sagi, Michal"'
Search Results
2. An Ashkenazi founder mutation in the PKHD1 gene
3. Patients’ Attitudes Towards Disclosure of Genetic Test Results to Family Members: The Impact of Patients’ Sociodemographic Background and Counseling Experience
4. Language in Boys with Fragile X Syndrome
5. Genetic screening in patients with Retinoblastoma in Israel
6. Lynch Syndrome in high risk Ashkenazi Jews in Israel
7. Genetic Counseling Services and Training of Genetic Counselors in Israel: An Overview
8. Genetic predisposition to radiation induced sarcoma: possible role for BRCA and p53 mutations
9. 'My funky genetics': BRCA1/2 mutation carriers' understanding of genetic inheritance and reproductive merger in the context of new reprogenetic technologies
10. Two BRCA1/2 founder mutations in Jews of Sephardic origin
11. Mutation spectrum in HNPCC in the Israeli population
12. Acceptance of Preventive Surgeries by Israeli Women Who had Undergone BRCA Testing
13. Carrier screening for gaucher disease
14. Preimplantation genetic diagnosis for cancer syndromes: A new challenge for preventive medicine
15. Incorporating information regarding preimplantation genetic diagnosis into discussions concerning testing and risk management for BRCA1/2 mutations: A qualitative study of patient preferences
16. Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment
17. Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness geneATOH1
18. Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations
19. The Effect of Genetic Counseling on Knowledge and Perceptions Regarding Risks for Breast Cancer
20. Carrier Screening for Gaucher Disease: Lessons for Low-Penetrance, Treatable Diseases
21. Cancer risks in carriers of the BRCA1/2 Ashkenazi founder mutations
22. Cancer Genetic Testing and Assisted Reproduction
23. Cancer risks in carriers of the BRCA 1/2 Ashkenazi founder mutations
24. Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy
25. Mutation spectrum in Jewish cystic fibrosis patients in Israel: Implication to carrier screening
26. Genetic screening for Gaucher disease in Israel: genetic screening program for a low penetrant, treatable disease
27. A novel BRCA-1 mutation in Arab kindred from east Jerusalem with breast and ovarian cancer
28. Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C
29. Genetic testing of breast and ovarian cancer patients: clinical characteristics and hormonal risk modifiers
30. Acceptance of preventive surgeries by Israeli women who had undergone BRCA testing
31. Patients’ Attitudes Towards Disclosure of Genetic Test Results to Family Members: The Impact of Patients’ Sociodemographic Background and Counseling Experience
32. Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies
33. A BRCA1 Frame Shift Mutation in Women of Kurdish Jewish Descent
34. Enhancement of Carcinogen-Induced Chromosome Breakage and Sister Chromatid Exchange by 13-Cis-Retinoic Acid
35. ‘TheBRCAClock is Ticking!’: Negotiating medical concerns and reproductive goals in preimplantation genetic diagnosis
36. Identification of Mutations Causing Inherited Retinal Degenerations in the Israeli and Palestinian Populations Using Homozygosity Mapping
37. Lynch Syndrome in high risk Ashkenazi Jews in Israel
38. Incorporating information regarding preimplantation genetic diagnosis into discussions concerning testing and risk management forBRCA1/2 mutations
39. Familial Cancer and Genetic Testing Experiences Interview
40. BRCA Interview Guide
41. Genome‐wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment
42. Complete remission, in BRCA2 mutation carrier with metastatic pancreatic adenocarcinoma, treated with cisplatin based therapy
43. Two BRCA1/2 founder mutations in Jews of Sephardic origin
44. Response to ACMG guideline: Carrier screening in individuals of Ashkenazi Jewish decent
45. In Reply
46. A novel BRCA-1 mutation in Arab kindred from east Jerusalem with breast and ovarian cancer
47. A novel MLH1 mutation harbored as a germ line aberration by a young woman of an HNPCC-like family and exhibited by a CML patient when occurring prior to the initiation of the blast phase concomitant with a c-MYC amplification
48. Sporadic breast cancer among relatives of BRCA mutation carriers
49. Extended Phenotype in the Transthyretin Tyr77 Familial Amyloid Polyneuropathy
50. On not wanting to know and not wanting to inform others: choices regarding predictive genetic testing
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