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48 results on '"Wick, Myra J."'

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1. Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data

2. NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024.

5. Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.

6. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

10. State of the Science and Ethical Considerations for Preimplantation Genetic Testing for Monogenic Cystic Kidney Diseases and Ciliopathies

13. Response to Stern

14. List of Contributors

18. Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience

21. Long QT Syndrome–Associated Mutations in Intrauterine Fetal Death

22. NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020

23. Int22h1/Int22h2 ‐mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features

25. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

26. Primary appendiceal mucinous adenocarcinoma in two first-degree relatives: case report and review

27. Maternal obesity is associated with phenotypic alterations in fetal immune cells by single‐cell mass cytometry.

31. False Negative Cell-Free DNA Screening Result in a Newborn with Trisomy 13

33. NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2017

34. Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic

35. Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2015

39. Childhood-onset ataxia: Testing for large CAG-repeats in SCA2 and SCA7

41. Genetic Basis of Neurologic and Neuromuscular Diseases.

42. Molecular Detection of Multiple Endocrine Neoplasia Type 2.

45. Long range polymerase chain reaction-based diagnosis of friedreich ataxia in the clinical molecular diagnostics laboratory

47. Assessment of Aminoglycoside-Induced Hearing Loss Risk in the Perinatal Period.

48. NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2017.

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