363 results on '"Inagaki, Hidehito"'
Search Results
2. Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes
3. A case of early onset adenocarcinoma associated with colorectal polyposis with an unknown germline mutation
4. Whole-exome analysis of 177 pediatric patients with undiagnosed diseases
5. Genotype-phenotype correlation of renal lesions in the tuberous sclerosis complex
6. Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism‐holoprosencephaly
7. Comparative Analysis of Two NGS-Based Platforms for Product-of-Conception Karyotyping.
8. SEGA‐like circumscribed astrocytoma in a non‐NF1 patient, harboring molecular profile of GBM. A case report.
9. Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion
10. Application and Prospects of Long Read Sequencers for Preimplantation Genetic Testing
11. A Turner syndrome case associated with dic(Y;22)
12. The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications
13. A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia
14. FOXA2 gene mutation in a patient with congenital complex pituitary hormone deficiency
15. Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental disomy
16. Obstetric complication-associated ANXA5 promoter polymorphisms may affect gene expression via DNA secondary structures
17. An aggressive systemic mastocytosis preceded by ovarian dysgerminoma
18. The Bartonella autotransporter BafA activates the host VEGF pathway to drive angiogenesis
19. A Case of Bilateral Elbow Dislocation in a Patient with Rubinstein-Taybi Syndrome
20. Familial cardiac septal defect due to a novel nine-base deletion in TBX20
21. A simple cytogenetic method to detect chromosomally integrated human herpesvirus-6
22. Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion
23. Myogenin promoter‐associated lncRNA Myoparr is essential for myogenic differentiation
24. Clinical application of long‐read nanopore sequencing in a preimplantation genetic testing pre‐clinical workup to identify the junction for complex Xq chromosome rearrangement‐related disease
25. Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report
26. Novel missense mutation in DLL4 in a Japanese sporadic case of Adams–Oliver syndrome
27. Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variant
28. Transport and Golgi organization 2 deficiency with a prominent elevation of C14 :1 during a metabolic crisis: A case report
29. Maple syrup urine disease due to a paracentric inversion of chr 19 that disruptsBCKDHA: A case report
30. Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy
31. Preimplantation genetic diagnosis/screening by comprehensive molecular testing
32. Characterization of the MG828507 lncRNA Located Upstream of the FLT1 Gene as an Etiology for Pre-Eclampsia
33. A case of 46, XY disorders of sex development with congenital heart disease caused by a GATA4 variant
34. Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variant.
35. Two Japanese patients with Noonan syndrome‐like disorder with loose anagen hair 2
36. A PDE3A mutation in familial hypertension and brachydactyly syndrome
37. Identification of a Novel Mutation in Carboxyl Ester Lipase Gene in a Patient with MODY-like Diabetes
38. Transport and Golgi organization 2 deficiency with a prominent elevation of C14:1 during a metabolic crisis: A case report.
39. Maple syrup urine disease due to a paracentric inversion of chr 19 that disrupts BCKDHA: A case report.
40. A case of 46,XY disorders of sex development with congenital heart disease caused by a GATA4 variant.
41. Additional file 1 of A Turner syndrome case associated with dic(Y;22)
42. Additional file 3 of A Turner syndrome case associated with dic(Y;22)
43. Prevalence of Emanuel syndrome: Theoretical frequency and surveillance result
44. Mutations of the SYCP3 gene in women with recurrent pregnancy loss
45. An Analysis of Differentially Expressed Coding and Long Non-Coding RNAs in Multiple Models of Skeletal Muscle Atrophy
46. Familial cardiac septal defect due to a novel nine-base deletion in TBX20
47. Meiotic recombination and spatial proximity in the etiology of the recurrent (t11;22)
48. Palindrome-mediated chromosomal translocations in humans
49. HORMAD2 is essential for synapsis surveillance during meiotic prophase via the recruitment of ATR activity
50. HORMAD1-dependent checkpoint/surveillance mechanism eliminates asynaptic oocytes
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