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Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings

Journal of autism and developmental disorders, 2021-12, Vol.51 (12), p.4655-4662

2021

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A case of Kawasaki disease complicated by acute disseminated encephalitis

Pediatrics international, 2020-07, Vol.62 (7), p.872-873

2020

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Role of Class III phosphoinositide 3‐kinase in the brain development: possible involvement in specific learning disorders

Journal of neurochemistry, 2016-10, Vol.139 (2), p.245-255

2016

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A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndrome

American journal of medical genetics. Part A, 2016-09, Vol.170A (9), p.2483-2485

2016

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Praxis‐induced reflex seizures in two Japanese cases with ring chromosome 20 syndrome

Epileptic disorders, 2020-04, Vol.22 (2), p.214-218

2020

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Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses

Human mutation, 2021-01, Vol.42 (1), p.50-65

2021

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Xq26.1‐26.3 duplication including MOSPD1 and GPC3 identified in boy with short stature and double outlet right ventricle

American journal of medical genetics. Part A, 2017-09, Vol.173 (9), p.2446-2450

2017

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Cerebral Blood Flow on 99mTc Ethyl Cysteinate Dimer SPECT in 2 Siblings With Monocarboxylate Transporter 8 Deficiency

Clinical nuclear medicine, 2013-06, Vol.38 (6), p.e276-e278

2013

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Cerebral blood flow on (99m)Tc ethyl cysteinate dimer SPECT in 2 siblings with monocarboxylate transporter 8 deficiency

Clinical nuclear medicine, 2013-06, Vol.38 (6), p.e276-e278

2013

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Regional Mapping of Two Subunits of Transcription Factor E4TF1 to Human Chromosome

Japanese Journal of Cancer Research, 1995-01, Vol.86 (1), p.10-12

1995

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A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndrome

American journal of medical genetics. Part A, 2016, Vol.170 (9), p.2483-2485

2016

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Transcriptional activation through interaction of MBF2 with TFIIA

Genes to cells : devoted to molecular & cellular mechanisms, 1997-02, Vol.2 (2), p.143-153

1997

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Resonance assignments, secondary structure and 15N relaxation data of the human transcriptional coactivator hMBF1 (57-148)

Journal of biomolecular NMR, 1999-08, Vol.14 (4), p.373-376

1999

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A longitudinal quantitative trait locus mapping of chicken growth traits

Molecular genetics and genomics : MGG, 2019-02, Vol.294 (1), p.243-252

2019

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Critical role of rabphilin‐3A in the pathophysiology of experimental lymphocytic neurohypophysitis

The Journal of pathology, 2018-04, Vol.244 (4), p.469-478

2018

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Low skeletal muscle density is associated with poor survival in patients who receive chemotherapy for metastatic gastric cancer

Oncology reports, 2016-03, Vol.35 (3), p.1727-1731

2016

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The stability of initial tacrolimus concentration following allogeneic hematopoietic stem cell transplantation reduces the risk of acute GVHD

Clinical transplantation, 2020-10, Vol.34 (10), p.e14052-n/a

2020

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Hair graying with aging in mice carrying oncogenic RET

Aging cell, 2020-11, Vol.19 (11), p.e13273-n/a

2020

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Large scale clinico-genomic analyses among patients with BRAF-mutated non-small cell lung cancers (NSCLC) identified by nationwide genomic screening project (LC-SCRUM-Japan)

Journal of clinical oncology, 2020-05, Vol.38 (15_suppl), p.9590-9590

2020

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Targeted deep next generation sequencing identifies potential somatic and germline variants for predisposition to familial Burkitt lymphoma

European journal of haematology, 2021-07, Vol.107 (1), p.166-169

2021

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Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation

Journal of neurology, neurosurgery and psychiatry, 2014-09, Vol.85 (9), p.1024-1028

2014

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Abstract 203: Long-term Outcome Of Kawasaki Disease With Giant Coronary Aneurysms Which Waste Cardiac Follow-up; A Case Report

Circulation (New York, N.Y.), 2015-04, Vol.131 (suppl_2)

2015

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Transglucosidase improves the bowel movements in type 2 diabetes mellitus patients: A preliminary randomized double-blind, placebo-controlled study

United European gastroenterology journal, 2017-10, Vol.5 (6), p.898-907

2017

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Population pharmacokinetic and pharmacogenomic analysis of tacrolimus in pediatric living-donor liver transplant recipients

Clinical pharmacology and therapeutics, 2006-10, Vol.80 (4), p.331-345

2006

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Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings

A case of Kawasaki disease complicated by acute disseminated encephalitis

Role of Class III phosphoinositide 3‐kinase in the brain development: possible involvement in specific learning disorders

A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndrome

Praxis‐induced reflex seizures in two Japanese cases with ring chromosome 20 syndrome

Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses

Xq26.1‐26.3 duplication including MOSPD1 and GPC3 identified in boy with short stature and double outlet right ventricle

Cerebral Blood Flow on 99mTc Ethyl Cysteinate Dimer SPECT in 2 Siblings With Monocarboxylate Transporter 8 Deficiency

Cerebral blood flow on (99m)Tc ethyl cysteinate dimer SPECT in 2 siblings with monocarboxylate transporter 8 deficiency

Regional Mapping of Two Subunits of Transcription Factor E4TF1 to Human Chromosome

A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndrome

Transcriptional activation through interaction of MBF2 with TFIIA

Resonance assignments, secondary structure and 15N relaxation data of the human transcriptional coactivator hMBF1 (57-148)

A longitudinal quantitative trait locus mapping of chicken growth traits

Critical role of rabphilin‐3A in the pathophysiology of experimental lymphocytic neurohypophysitis

Low skeletal muscle density is associated with poor survival in patients who receive chemotherapy for metastatic gastric cancer

The stability of initial tacrolimus concentration following allogeneic hematopoietic stem cell transplantation reduces the risk of acute GVHD

Hair graying with aging in mice carrying oncogenic RET

Large scale clinico-genomic analyses among patients with BRAF-mutated non-small cell lung cancers (NSCLC) identified by nationwide genomic screening project (LC-SCRUM-Japan)

Targeted deep next generation sequencing identifies potential somatic and germline variants for predisposition to familial Burkitt lymphoma

Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation

Abstract 203: Long-term Outcome Of Kawasaki Disease With Giant Coronary Aneurysms Which Waste Cardiac Follow-up; A Case Report

Transglucosidase improves the bowel movements in type 2 diabetes mellitus patients: A preliminary randomized double-blind, placebo-controlled study

Population pharmacokinetic and pharmacogenomic analysis of tacrolimus in pediatric living-donor liver transplant recipients

Efficacy and safety of autologous peripheral blood stem cell transplantation for Philadelphia chromosome-positive acute lymphoblastic leukemia: A study protocol for a multicenter exploratory prospective study (Auto-Ph17 study)

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