159 results on '"Ogata, Tsutomu"'
Search Results
2. Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance
3. Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver–Russell syndrome: case reports and literature review
4. Expression levels and DNA methylation profiles of the growth gene SHOX in cartilage tissues and chondrocytes
5. RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing
6. Assessment of patients’ characteristics associated with the efficacy and safety of oral valganciclovir treatment for infants with symptomatic congenital cytomegalovirus disease
7. DNA methylation changes in the genome of patients with hypogonadotropic hypogonadism
8. A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome
9. Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes
10. Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility
11. Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system
12. ACAN biallelic variants in a girl with severe idiopathic short stature
13. Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing
14. Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata
15. Congenital disorders of estrogen biosynthesis and action
16. Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)
17. Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences
18. First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
19. Case Report: Novel compound heterozygous TPRKB variants cause Galloway-Mowat syndrome
20. Assessment of patients’ characteristics associated with the efficacy and safety of oral valganciclovir treatment for infants with symptomatic congenital cytomegalovirus disease
21. Correction to: Growth references for Japanese individuals with Noonan syndrome
22. A novel GNAS-Gsα splice donor site variant in a girl with pseudohypoparathyroidism type 1A and her mother with pseudopseudohypoparathyroidism
23. TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis
24. Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency: Implications for hormonal diagnosis
25. P389: Kagami-Ogata syndrome: The indispensable role of clinical assessment and utilization of advanced molecular technologies
26. TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis.
27. Case Report: Molecular autopsy underlie COVID-19-associated sudden, unexplained child mortality
28. Microdeletion at ESR1 Intron 6 (DEL_6_75504) Is a Susceptibility Factor for Cryptorchidism and Hypospadias
29. Expanded targeted screening for congenital cytomegalovirus infection
30. Additional file 5 of Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes
31. Additional file 2 of Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes
32. Additional file 3 of Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes
33. Additional file 4 of Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes
34. Risk assessment of assisted reproductive technology and parental ages at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes
35. Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature
36. A questionnaire-based survey of medical conditions in adults with Prader-Willi syndrome in Japan: implications for transitional care
37. Characterization of KMT2A::MATR3 fusion in a patient with acute lymphoblastic leukemia and monitoring of minimal residual disease by nanoplate digital PCR
38. PORCN ‐related microphthalmia with limb anomalies: Case report and literature review
39. A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants
40. A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants.
41. Familial Pseudohypoparathyroidism Type IB Associated with an SVA Retrotransposon Insertion in the GNAS Locus
42. Pathogenic Copy Number and Sequence Variants in Children Born SGA With Short Stature Without Imprinting Disorders
43. Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing
44. Trans-acting genetic variants causing multilocus imprinting disturbance (MLID):common mechanisms and consequences
45. Microdeletion at ESR1Intron 6 (DEL_6_75504) Is a Susceptibility Factor for Cryptorchidism and Hypospadias
46. The first adult case of cytochrome P450 oxidoreductase deficiency with sufficient semen volume and sperm concentration
47. SHOX far‐downstream deletion in a patient with nonsyndromic short stature
48. Retinitis pigmentosa with optic neuropathy and COQ2 mutations: A case report
49. Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa
50. Intrauterine hyponutrition reduces fetal testosterone production and postnatal sperm count in the mouse
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