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NT5E Genetic Mutation Is a Rare But Important Cause of Intermittent Claudication and Chronic Limb-Threatening Ischemia

Circulation Journal, 2020/06/25, Vol.84(7), pp.1183-1188

2020

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MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM

Human genome variation, 2022-01, Vol.9 (1), p.2-2, Article 2

2022

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Novel NARS2 variant causing leigh syndrome with normal lactate levels

Human genome variation, 2022-05, Vol.9 (1), p.12-12, Article 12

2022

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Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach

Journal of human genetics, 2015-04, Vol.60 (4), p.175-182

2015

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Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features

Journal of human genetics, 2012-03, Vol.57 (3), p.207-211

2012

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Wisconsin syndrome with brain volume laterality: a case report and review of the literature

Journal of medical case reports, 2022-04, Vol.16 (1), p.153-153, Article 153

2022

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GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy

Human genome variation, 2023-02, Vol.10 (1), p.4-4, Article 4

2023

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Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability

Human genome variation, 2024-03, Vol.11 (1), p.13-13

2024

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Molecular Basis of Neonatal Diabetes in Japanese Patients

The journal of clinical endocrinology and metabolism, 2007-10, Vol.92 (10), p.3979-3985

2007

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A novel HECW2 variant in an infant with congenital long QT syndrome

Human genome variation, 2023-06, Vol.10 (1), p.17-17, Article 17

2023

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Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance : A case report

Clinical Pediatric Endocrinology, 2020-10, Vol.29 (4), p.179-182

2020

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MBTPS2 mutation causes BRESEK/BRESHECK syndrome

American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.97-102

2012

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Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation

Journal of human genetics, 2011-08, Vol.56 (8), p.609-612

2011

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Genitopatellar syndrome: the first reported case in Japan

Human genome variation, 2018-05, Vol.5 (1), p.8-4, Article 8

2018

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Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion

Journal of human genetics, 2012-03, Vol.57 (3), p.191-196

2012

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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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Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I

Human genome variation, 2019-01, Vol.6 (1), p.8, Article 8

2019

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A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions

Brain & development (Tokyo. 1979), 2009-01, Vol.31 (1), p.27-33

2009

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Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease

Nature genetics, 2000-09, Vol.26 (1), p.19-20

2000

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The CASK gene harbored in a deletion detected by array‐CGH as a potential candidate for a gene causative of X‐linked dominant mental retardation

American journal of medical genetics. Part A, 2008-08, Vol.146A (16), p.2145-2151

2008

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Acute disseminated encephalomyelitis in an infant with incontinentia pigmenti

Brain & development (Tokyo. 1979), 2009-09, Vol.31 (8), p.625-628

2009

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Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis

Journal of human genetics, 2007-05, Vol.52 (5), p.397-405

2007

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Paternal Allele of IGF2 Gene Haplotype CTG Is Associated With Fetal and Placental Growth in Japanese

Pediatric research, 2009-08, Vol.66 (2), p.135-139

2009

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NT5E Genetic Mutation Is a Rare But Important Cause of Intermittent Claudication and Chronic Limb-Threatening Ischemia

MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM

Novel NARS2 variant causing leigh syndrome with normal lactate levels

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach

Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features

Wisconsin syndrome with brain volume laterality: a case report and review of the literature

GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy

Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability

Molecular Basis of Neonatal Diabetes in Japanese Patients

A novel HECW2 variant in an infant with congenital long QT syndrome

Case Report: A Rare Case of Esophagogastric Junctional Squamous Cell Carcinoma After the Successful Treatment of Neuroendocrine Carcinoma: Clonal Tumor Evolution Revealed by Genetic Analysis

Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance : A case report

MBTPS2 mutation causes BRESEK/BRESHECK syndrome

Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation

Genitopatellar syndrome: the first reported case in Japan

Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion

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

Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I

A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions

Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease

The CASK gene harbored in a deletion detected by array‐CGH as a potential candidate for a gene causative of X‐linked dominant mental retardation

Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies

Acute disseminated encephalomyelitis in an infant with incontinentia pigmenti

Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis

Paternal Allele of IGF2 Gene Haplotype CTG Is Associated With Fetal and Placental Growth in Japanese

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