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Analytical expressions for real and complex Fano parameters in a simple classical harmonic oscillator system

Japanese Journal of Applied Physics, 2022-07, Vol.61 (SG), p.SG1010

Mizuno, Seiji

2022

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Phononic bandgaps peculiar to solid-fluid superlattices

Japanese Journal of Applied Physics, 2016-01, Vol.55 (1), p.17302

Mizuno, Seiji

2016

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A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders

Journal of human genetics, 2021-05, Vol.66 (5), p.491-498

2021

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Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes

Journal of human genetics, 2022-06, Vol.67 (6), p.363-368

2022

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Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

American journal of human genetics, 2013-07, Vol.93 (1), p.173-180

2013

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Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients

Genetics in medicine, 2017-12, Vol.19 (12), p.1356-1366

2017

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Establishment of in-hospital clinical network for patients with neurofibromatosis type 1 in Nagoya University Hospital

Scientific reports, 2021-06, Vol.11 (1), p.11933-11933, Article 11933

2021

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Growth pattern of Rahman syndrome

American journal of medical genetics. Part A, 2018-03, Vol.176 (3), p.712-714

2018

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Gait characteristics of children with Williams syndrome with impaired visuospatial recognition: a three-dimensional gait analysis study

Experimental brain research, 2020-12, Vol.238 (12), p.2887-2895

2020

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Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype

American journal of medical genetics. Part A, 2016-10, Vol.170A (10), p.2587-2590

2016

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Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)

PloS one, 2017-08, Vol.12 (8), p.e0181791-e0181791

2017

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Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients

The journal of clinical endocrinology and metabolism, 2018-06, Vol.103 (6), p.2083-2088

2018

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Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures

American journal of medical genetics. Part A, 2021-04, Vol.185 (4), p.1182-1186

2021

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Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction

Journal of human genetics, 2023-02, Vol.68 (2), p.87-90

2023

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Role of chimeric transcript formation in the pathogenesis of birth defects

Congenital anomalies, 2021-05, Vol.61 (3), p.76-81

2021

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Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome

Journal of medical genetics, 2023-04, Vol.60 (4), p.359

2023

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A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies

American journal of human genetics, 2019-04, Vol.104 (4), p.596-610

2019

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Atypical Sotos syndrome caused by a novel splice site variant

Human genome variation, 2022-11, Vol.9 (1), p.41-41, Article 41

2022

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Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood

Brain & development (Tokyo. 1979), 2018-09, Vol.40 (8), p.678-684

2018

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Whole-exome analysis of 177 pediatric patients with undiagnosed diseases

Scientific reports, 2022-08, Vol.12 (1), p.14589-14589, Article 14589

2022

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Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1

American journal of medical genetics. Part A, 2018-02, Vol.176 (2), p.431-437

2018

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Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome

PloS one, 2013-03, Vol.8 (3), p.e60105-e60105

2013

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SATB2‐associated syndrome in patients from Japan: Linguistic profiles

American journal of medical genetics. Part A, 2019-06, Vol.179 (6), p.896-899

2019

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Disparities in visuo-spatial constructive abilities in Williams syndrome patients with typical deletion on chromosome 7q11.23

Brain & development (Tokyo. 1979), 2017-02, Vol.39 (2), p.145-153

2017

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Analytical expressions for real and complex Fano parameters in a simple classical harmonic oscillator system

Phononic bandgaps peculiar to solid-fluid superlattices

A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders

Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes

Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

Establishment of in-hospital clinical network for patients with neurofibromatosis type 1 in Nagoya University Hospital

Growth pattern of Rahman syndrome

Gait characteristics of children with Williams syndrome with impaired visuospatial recognition: a three-dimensional gait analysis study

Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype

Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)

Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients

Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures

Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction

Role of chimeric transcript formation in the pathogenesis of birth defects

Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome

A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies

Atypical Sotos syndrome caused by a novel splice site variant

Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood

Whole-exome analysis of 177 pediatric patients with undiagnosed diseases

Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1

Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome

SATB2‐associated syndrome in patients from Japan: Linguistic profiles

Disparities in visuo-spatial constructive abilities in Williams syndrome patients with typical deletion on chromosome 7q11.23

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