304 results on '"Mizuno, Seiji"'
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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. A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders
13. Gait characteristics of children with Williams syndrome with impaired visuospatial recognition: a three-dimensional gait analysis study
14. The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications
15. Establishment of in-hospital clinical network for patients with neurofibromatosis type 1 in Nagoya University Hospital
16. Integrated diagnosis based on transcriptome analysis in suspected pediatric sarcomas
17. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
18. A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies
19. Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism‐holoprosencephaly.
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. Development of Compact and High-Performance Fuel Cell Stack
26. Growth pattern of Rahman syndrome
27. Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
28. SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements
29. Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1
30. Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations
31. Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome
32. Impaired gating of γ‐ and ε‐AChR respectively causes Escobar syndrome and fast‐channel myasthenia.
33. Development of Visuospatial Ability and Kanji Copying in Williams Syndrome
34. Acoustic phonon modes and phononic bandgaps in GaN/AlN nanowire superlattices
35. A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines
36. The spectrum of ZEB2 mutations causing the Mowat–Wilson syndrome in Japanese populations
37. Microarray and FISH-based genotype–phenotype analysis of 22 Japanese patients with Wolf–Hirschhorn syndrome
38. 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
39. Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
40. Surgical intervention for esophageal atresia in patients with trisomy 18
41. Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome
42. MLL2 and KDM6A mutations in patients with Kabuki syndrome
43. Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature
44. Analytical expressions for real and complex Fano parameters in a simple classical harmonic oscillator system.
45. KDM6A Point Mutations Cause Kabuki Syndrome
46. Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations
47. Age-dependent change in behavioral feature in Rubinstein-Taybi syndrome
48. The Incidence of Hypoplasia of the Corpus Callosum in Patients With dup (X)(q28) Involving MECP2 Is Associated With the Location of Distal Breakpoints†
49. Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: Findings from a nationwide epidemiological survey
50. Ophthalmic Features of CHARGE Syndrome With CHD7 Mutations
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