40 results on '"Hamanoue, Haruka"'
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2. Single-cell transcriptomes underscore genetically distinct tumor characteristics and microenvironment for hereditary kidney cancers
3. Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing
4. Genetic Counseling: Chromosomal Structural Rearrangements
5. Retrospective details of false-positive and false-negative results in non-invasive prenatal testing for fetal trisomies 21, 18 and 13
6. Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in Japan
7. Genetic Counseling: Chromosomal Structural Rearrangements
8. Mitochondrial DNA mutations can influence the post-implantation development of human mosaic embryos
9. Fetal cell-free DNA fraction in maternal plasma for the prediction of hypertensive disorders of pregnancy
10. Attitudes of clinical geneticists and certified genetic counselors to genome editing and its clinical applications: A nation-wide questionnaire survey in Japan
11. Comparative analyses define differences between BHD-associated renal tumour and sporadic chromophobe renal cell carcinoma
12. Periodic paralysis due to cumulative effects of rare variants inSCN4Awith small functional alterations
13. Clinical features of Birt–Hogg–Dubé syndrome: A Japanese case with pulmonary cysts, fibrofolliculomas and renal cell carcinoma
14. Changes in the number of babies born with Down syndrome in Japan
15. Preconceptional folic acid supplementation in Japan
16. Single-Cell Transcriptomes of Hereditary Kidney Cancers Underscore Genetically Defined Tumor Characteristics and Microenvironment
17. Periodic paralysis due to cumulative effects of rare variants in SCN4A with small functional alterations.
18. Diverse Pathological Findings of Interstitial Lung Disease in a Patient with Dyskeratosis Congenita
19. Qualitative investigation of the factors that generate ambivalent feelings in women who give birth after receiving negative results from non-invasive prenatal testing
20. Qualitative investigation of the factors that generate ambivalent feelings in women who give birth after receiving negative results from non-invasive prenatal testing
21. Li-Fraumeni Syndrome Detected during Breast Cancer Diagnosis
22. Qualitative investigation of the factors that generate ambivalent feelings in women who give birth after receiving negative results from non-invasive prenatal testing
23. Evaluation of the clinical performance of noninvasive prenatal testing at a Japanese laboratory.
24. Factors generating ambivalent feelings in women who gave birth after receiving a negative result on non-invasive prenatal testing: A qualitative study
25. Ambivalence among women who gave birth after receiving a negative result on non-invasive prenatal testing: a qualitative study
26. Classification of factors involved in nonreportable results of noninvasive prenatal testing (NIPT) and prediction of success rate of second NIPT
27. Multicenter experience with large panel next-generation sequencing in patients with advanced solid cancers in Japan
28. Distribution of PAPP-A and total hCG between 11 and 13 weeks of gestation in Japanese pregnant women
29. リングY染色体と考えられた染色体異常を有する無精子症患者の1例
30. Distribution of PAPP-A and total hCG between 11 and 13 weeks of gestation in Japanese pregnant women.
31. An infertile patient with Y chromosome b1/b3 deletion presenting with congenital bilateral absence of the vas deferens with normal spermatogenesis
32. Current status of non‐invasive prenatal testing in Japan
33. Clinical features of Birt-Hogg-Dubé syndrome: A Japanese case with pulmonary cysts, fibrofolliculomas and renal cell carcinoma
34. Peran Mutasi Gen CRELD1 pada Defek Septum Ventrikel dan Hubungannya dengan Manifestasi Klinis
35. Factors affecting parental decisions to terminate pregnancy in the presence of chromosome abnormalities: a Japanese multicenter study
36. Multicenter experience with large panel next-generation sequencing in patients with advanced solid cancers in Japan.
37. A survey on awareness of genetic counseling for non-invasive prenatal testing: the first year experience in Japan
38. Complete nanopore repeat sequencing of SCA27B (GAA- FGF14 ataxia) in Japanese.
39. Qualitative investigation of the factors that generate ambivalent feelings in women who give birth after receiving negative results from non-invasive prenatal testing.
40. [Case of azoospermia patient with a chromosomal abnormality considered a ring Y chromosome].
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