31 results on '"Berman, Yemima"'
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2. Incorporating a polygenic risk score-triaged coronary calcium score into cardiovascular disease examinations to identify subclinical coronary artery disease (ESCALATE): Protocol for a prospective, nonrandomized implementation trial
3. Current and Emerging Imaging Techniques for Neurofibromatosis Type 1–Associated Cutaneous Neurofibromas
4. The psychological impact and experience of breast cancer screening in young women with an increased risk of breast cancer due to neurofibromatosis type 1
5. Evaluating the model of offering expanded genetic carrier screening to high school students within the Sydney Jewish community
6. A core outcome domain set to assess cutaneous neurofibromas related to neurofibromatosis type 1 in clinical trials.
7. Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy
8. Incorporating a polygenic risk score-triaged coronary calcium score into cardiovascular disease examinations to identify subclinical coronary artery disease (ESCALATE): Protocol for a prospective, nonrandomized implementation trial.
9. Making good on the promise of genomics in healthcare: the NSW Health perspective.
10. The Impact of Neurofibromatosis Type 1 on the Health and Wellbeing of Australian Adults
11. Characterization of health concerns in people with neurofibromatosis type 1.
12. α-Actinin-3 deficiency is associated with reduced bone mass in human and mouse
13. The effect of α-actinin-3 deficiency on muscle aging
14. Ashkenazi Jewish population screening for Tay–Sachs disease: The International and Australian experience
15. Paediatric genomic testing: Navigating genomic reports for the general paediatrician.
16. Genetic counselors, patients', and carers' views on an Australian clinical genetics service information system.
17. Measuring the Effect of Cutaneous Neurofibromas on Quality of Life in Neurofibromatosis Type 1.
18. Nanophthalmos in a Melanesian population
19. Paediatric genomic testing: Navigating medicare rebatable genomic testing.
20. First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.
21. A Gene for Speed: The Emerging Role of ⍺-Actinin-3 in Muscle Metabolism.
22. Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans.
23. Nanophthalmos in a Melanesian population.
24. Abstract 13371: PKP2 Loss-of-Function Variants in Probands With Sudden Unexplained Cardiac Death Events.
25. Concealed Arrhythmogenic Right Ventricular Cardiomyopathy in Sudden Unexplained Cardiac Death Events.
26. 71. Case report on fatal familial insomnia associated with myelodysplasia due to chromosome 20q deletion.
27. The impact of cutaneous neurofibromas on quality of life and mental health in neurofibromatosis type 1.
28. Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
29. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.
30. Concealed Arrhythmogenic Right Ventricular Cardiomyopathy in Sudden Unexplained Cardiac Death Events.
31. Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2.
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