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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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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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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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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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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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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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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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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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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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Symmetric and asymmetric spectra of acoustic waves resonantly transmitted through a slab in a fluid

Japanese Journal of Applied Physics, 2020-07, Vol.59 (SK), p.SKKA02

Mizuno, Seiji

2020

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Mowat-Wilson syndrome: growth charts

Orphanet journal of rare diseases, 2020-06, Vol.15 (1), p.1-12, Article 151

2020

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Characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations

Brain & development (Tokyo. 1979), 2017-09, Vol.39 (8), p.672-677

2017

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Localized Torsional Modes in a Nanowire Superlattice with a Defect Layer

Japanese Journal of Applied Physics, 2008-05, Vol.47 (5S), p.3817

Mizuno, Seiji

2008

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Impaired gating of γ‐ and ε‐AChR respectively causes Escobar syndrome and fast‐channel myasthenia

Annals of clinical and translational neurology, 2023-05, Vol.10 (5), p.732-743

2023

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Legg‐Calvé‐Perthes disease in a patient with Bardet‐Biedl syndrome: A case report of a novel MKKS/BBS6 mutation

Clinical case reports, 2020-12, Vol.8 (12), p.3110-3115

2020

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SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements

Journal of human genetics, 2016-04, Vol.61 (4), p.335-343

2016

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A case of Tetrasomy 15q with left cleft lip and alveolus

Journal of oral and maxillofacial surgery, medicine, and pathology, 2017-09, Vol.29 (5), p.427-429

2017

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Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects

Clinical epigenetics, 2017-05, Vol.9 (1), p.52-52, Article 52

2017

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Successful treatment with rituximab of refractory idiopathic thrombocytopenic purpura in a patient with Kabuki syndrome

International journal of hematology, 2009-09, Vol.90 (2), p.174-176

2009

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Coherent guided acoustic phonons in GaN/AlN nanowire superlattices

Japanese Journal of Applied Physics, 2018-07, Vol.57 (7S1), p.7

2018

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Acoustic phonon modes and phononic bandgaps in GaN/AlN nanowire superlattices

Nanoscale research letters, 2012-08, Vol.7 (1), p.479-479, Article 479

Mizuno, Seiji

2012

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Vibrational modes and symmetry in a hexagonal-cross-section nanowire

Japanese Journal of Applied Physics, 2014-07, Vol.53 (7S), p.7-1-07KB02-5

Mizuno, Seiji

2014

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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

2017

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Jacobsen syndrome associated with cleft lip: A patient report and review

Journal of oral and maxillofacial surgery, medicine, and pathology, 2015-03, Vol.27 (2), p.236-239

2015

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Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotype

European journal of human genetics : EJHG, 2015-08, Vol.23 (8), p.1062-1067

2015

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

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

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

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

Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction

Atypical Sotos syndrome caused by a novel splice site variant

Whole-exome analysis of 177 pediatric patients with undiagnosed diseases

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

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

Symmetric and asymmetric spectra of acoustic waves resonantly transmitted through a slab in a fluid

Mowat-Wilson syndrome: growth charts

Characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations

Localized Torsional Modes in a Nanowire Superlattice with a Defect Layer

Impaired gating of γ‐ and ε‐AChR respectively causes Escobar syndrome and fast‐channel myasthenia

Legg‐Calvé‐Perthes disease in a patient with Bardet‐Biedl syndrome: A case report of a novel MKKS/BBS6 mutation

SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements

A case of Tetrasomy 15q with left cleft lip and alveolus

Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects

Successful treatment with rituximab of refractory idiopathic thrombocytopenic purpura in a patient with Kabuki syndrome

Coherent guided acoustic phonons in GaN/AlN nanowire superlattices

Acoustic phonon modes and phononic bandgaps in GaN/AlN nanowire superlattices

Vibrational modes and symmetry in a hexagonal-cross-section nanowire

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

Jacobsen syndrome associated with cleft lip: A patient report and review

Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotype

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