102 results on '"Hamanoue, Haruka"'
Search Results
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. Fetal cell-free DNA fraction in maternal plasma for the prediction of hypertensive disorders of pregnancy
9. Attitudes of clinical geneticists and certified genetic counselors to genome editing and its clinical applications: A nation-wide questionnaire survey in Japan
10. Mitochondrial DNA mutations can influence the post-implantation development of human mosaic embryos
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. A −16C>T substitution in the 5′ UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano
20. Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in Japan
21. Qualitative investigation of the factors that generate ambivalent feelings in women who give birth after receiving negative results from non-invasive prenatal testing
22. Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies
23. Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing
24. Qualitative investigation of the factors that generate ambivalent feelings in women who give birth after receiving negative results from non-invasive prenatal testing
25. Li-Fraumeni Syndrome Detected during Breast Cancer Diagnosis
26. Qualitative investigation of the factors that generate ambivalent feelings in women who give birth after receiving negative results from non-invasive prenatal testing
27. A Locus for Ophthalmo-Acromelic Syndrome Mapped to 10p11.23
28. Complete hydatidiform mole and normal live birth following intracytoplasmic sperm injection
29. Evaluation of the clinical performance of noninvasive prenatal testing at a Japanese laboratory.
30. Factors generating ambivalent feelings in women who gave birth after receiving a negative result on non-invasive prenatal testing: A qualitative study
31. Ambivalence among women who gave birth after receiving a negative result on non-invasive prenatal testing: a qualitative study
32. Classification of factors involved in nonreportable results of noninvasive prenatal testing (NIPT) and prediction of success rate of second NIPT
33. Multicenter experience with large panel next-generation sequencing in patients with advanced solid cancers in Japan
34. 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
35. Distribution of PAPP-A and total hCG between 11 and 13 weeks of gestation in Japanese pregnant women.
36. Distribution of PAPP-A and total hCG between 11 and 13 weeks of gestation in Japanese pregnant women
37. An infertile patient with Y chromosome b1/b3 deletion presenting with congenital bilateral absence of the vas deferens with normal spermatogenesis
38. Current status of non‐invasive prenatal testing in Japan
39. Clinical features of Birt-Hogg-Dubé syndrome: A Japanese case with pulmonary cysts, fibrofolliculomas and renal cell carcinoma
40. Multicenter experience with large panel next-generation sequencing in patients with advanced solid cancers in Japan.
41. Peran Mutasi Gen CRELD1 pada Defek Septum Ventrikel dan Hubungannya dengan Manifestasi Klinis
42. Factors affecting parental decisions to terminate pregnancy in the presence of chromosome abnormalities: a Japanese multicenter study
43. This title is unavailable for guests, please login to see more information.
44. Whole-exome sequencing identified a homozygousFNBP4mutation in a family with a condition similar to microphthalmia with limb anomalies
45. A survey on awareness of genetic counseling for non-invasive prenatal testing: the first year experience in Japan
46. SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice
47. Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure
48. DisruptedSOX10regulation ofGJC2transcription causes Pelizaeus-Merzbacher-Like Disease
49. Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects
50. Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure.
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.