173 results on '"Yamazawa, Kazuki"'
Search Results
2. C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations
3. Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes
4. Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system
5. Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population
6. A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma
7. A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder
8. High-level heteroplasmy for the m.7445A>G mitochondrial DNA mutation can cause progressive sensorineural hearing loss in infancy
9. Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia
10. Genome-wide methylation analysis in Silver–Russell syndrome, Temple syndrome, and Prader–Willi syndrome
11. Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients
12. The pathogenic role of the BRCA2 c. 7847C >T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition
13. Acute, Severe Hepatitis Caused by Coronavirus Disease 2019: A Case Report
14. Risk assessment of assisted reproductive technology and parental ages at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes
15. 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
16. 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
17. 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
18. 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
19. Spontaneous intramural duodenal hematoma as the manifestation of Noonan syndrome
20. In utero undernourishment perturbs the adult sperm methylome and intergenerational metabolism
21. The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition.
22. CDKN1C hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited KCNQ1OT1:TSS-DMR
23. Pathogenic Copy Number and Sequence Variants in Children Born SGA With Short Stature Without Imprinting Disorders
24. Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss
25. Neonatal intestinal volvulus and preduodenal portal vein associated with situs ambiguus: Report of a case
26. IN UTERO EFFECTS: In utero undernourishment perturbs the adult sperm methylome and intergenerational metabolism
27. Monozygotic female twins discordant for Silver–Russell syndrome and hypomethylation of the H19-DMR
28. Molecular and clinical findings and their correlations in Silver-Russell syndrome: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2–H19 domain in bodies and placentas
29. Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST
30. Additional file 5 of Genome-wide methylation analysis in Silver–Russell syndrome, Temple syndrome, and Prader–Willi syndrome
31. Additional file 6 of Genome-wide methylation analysis in Silver–Russell syndrome, Temple syndrome, and Prader–Willi syndrome
32. Additional file 2 of Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients
33. Hyponatremia, hypophosphatemia, and hypouricemia in a girl with macrophage activation syndrome
34. Dynamics of transcription-mediated conversion from euchromatin to facultative heterochromatin at the Xist promoter by Tsix
35. Mosaic upd(7)mat in a patient with Silver–Russell syndrome
36. Metacarpophalangeal pattern profile analysis for a 3‐month‐old infant with Feingold syndrome 2
37. Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum
38. Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome
39. Placental hypoplasia in maternal uniparental disomy for chromosome 7
40. Familial Klippel–Feil anomaly and t(5;8)(q35.1;p21.1) translocation
41. Correction: ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs
42. ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs
43. A Familial Case of a Whole Germline CDC73 Deletion Discordant for Primary Hyperparathyroidism
44. CDKN1Chyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited KCNQ1OT1:TSS-DMR
45. Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum.
46. Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology
47. Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum
48. Loss of imprinting of the human-specific imprinted gene ZNF597causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome
49. Spontaneous intramural duodenal hematoma as the manifestation of Noonan syndrome
50. Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects
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