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2. The impact of coding germline variants on contralateral breast cancer risk and survival

3. Mutant Phosphodiesterase 3A Protects From Hypertension-Induced Cardiac Damage

4. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

5. Phosphodiesterase 3A activation for cardioprotection

8. PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families

9. PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families

10. Clinical, pathological and genetic characteristics of Perry disease—new cases and literature review

11. Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations

12. CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers

13. Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

14. The origin of EFNB1 mutations in craniofrontonasal syndrome: Frequent somatic mosaicism and explanation of the paucity of carrier males

15. Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk

17. Abstract 039: The PDE3A Gene Regulates Blood Pressure

18. The Spectrum of WRN Mutations in Werner Syndrome Patients

23. Annexin A1 expression in a pooled breast cancer series: Association with tumor subtypes and prognosis

24. Rare Complete and Partial Monosomy 7 Mosaicism Detected in a Case with FTT and Borderline Motor Delay, Subsequently Diagnosed with Juvenile MDS: An Exposition of this Case and Other Interesting Mosaic Cancer Case Studies

25. Three New Families With Perry Syndrome From Distinct Parts Of The World- Novel Mutation And Successful Treatment Attempt Of Respiratory Insufficiency (P3.086)

26. The New Zealand Neuromuscular Disease Registry

27. Familial hypercholesterolaemia: A model of care for Australasia

28. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

31. The spectrum ofWRNmutations in Werner syndrome patients

32. Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

34. CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers

35. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

36. Ring Chromosome 22 associated with Neurofibromatsosis 2.

37. Blue Rubber Bleb Nevus Syndrome with Central Nervous System involvement.

38. Genetic testing in New Zealand: the role of the general practitioner.

39. De novo deletion within the telomeric region flanking the human alpha globin locus as a cause of alpha thalassaemia.

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