548 results on '"Mizuno, Seiji"'
Search Results
2. Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm
3. Loss of function in NSD2 causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome
4. Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat–Wilson syndrome
5. Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction
6. Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes
7. Whole-exome analysis of 177 pediatric patients with undiagnosed diseases
8. Atypical Sotos syndrome caused by a novel splice site variant
9. Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2
10. CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants
11. Correction: Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction
12. Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism‐holoprosencephaly
13. A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders
14. Gait characteristics of children with Williams syndrome with impaired visuospatial recognition: a three-dimensional gait analysis study
15. The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications
16. Establishment of in-hospital clinical network for patients with neurofibromatosis type 1 in Nagoya University Hospital
17. Integrated diagnosis based on transcriptome analysis in suspected pediatric sarcomas
18. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
19. A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies
20. Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects
21. Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
22. Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients
23. Mowat-Wilson syndrome: growth charts
24. Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1–PPP1CB complexes
25. Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome
26. Impaired gating of γ‐ and ε‐AChR respectively causes Escobar syndrome and fast‐channel myasthenia
27. Development of Compact and High-Performance Fuel Cell Stack
28. DNA methylation signature inNSD2loss-of-function variants appeared similar to that in Wolf-Hirschhorn syndrome
29. Correction: Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction
30. Growth pattern of Rahman syndrome
31. Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
32. SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements
33. Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction
34. Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome
35. Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1
36. Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations
37. Analytical expressions for real and complex Fano parameters in a simple classical harmonic oscillator system
38. Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome
39. Electronic Structures of Hydrogen-Potassium-Graphite Ternary Intercalation Compounds
40. Development of Visuospatial Ability and Kanji Copying in Williams Syndrome
41. The novel and recurrent variants in exon 31 ofCREBBPin Japanese patients with Menke–Hennekam syndrome
42. Acoustic phonon modes and phononic bandgaps in GaN/AlN nanowire superlattices
43. A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines
44. The spectrum of ZEB2 mutations causing the Mowat–Wilson syndrome in Japanese populations
45. Microarray and FISH-based genotype–phenotype analysis of 22 Japanese patients with Wolf–Hirschhorn syndrome
46. 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
47. Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
48. Establishment of in-hospital clinical network for patients with neurofibromatosis type 1 in Nagoya University Hospital
49. R3HDM1haploinsufficiency is associated with mild intellectual disability
50. Surgical intervention for esophageal atresia in patients with trisomy 18
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