Publications by authors named "Shigeo Kure"

100Publications

Hypoketotic hypoglycemia in citrin deficiency: a case report.

BMC Pediatr 2020 Sep 22;20(1):444. Epub 2020 Sep 22.

Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryomachi, Aobaku, Sendai, Miyagi, 980-8574, Japan.

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http://dx.doi.org/10.1186/s12887-020-02349-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507238PMC
September 2020

Low birth weight and abnormal pre-pregnancy body mass index were at higher risk for hypertensive disorders of pregnancy.

Pregnancy Hypertens 2020 Aug 5;22:119-125. Epub 2020 Aug 5.

Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan; Tohoku University Graduate School of Medicine, Sendai, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.preghy.2020.08.001DOI Listing
August 2020

Utility of a bridged nucleic acid clamp for liquid biopsy: Detecting BRAF V600E in the cerebrospinal fluid of a patient with brain tumor.

Pediatr Blood Cancer 2020 Aug 9:e28651. Epub 2020 Aug 9.

Division of Brain Tumor Translational Research, National Cancer Center Research Institute, Tokyo, Japan.

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http://dx.doi.org/10.1002/pbc.28651DOI Listing
August 2020

Behavioral problems and family distress in tuberous sclerosis complex.

Epilepsy Behav 2020 Oct 19;111:107321. Epub 2020 Jul 19.

Department of Pediatrics, Tohoku University School of Medicine, 980-8574, Japan.

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http://dx.doi.org/10.1016/j.yebeh.2020.107321DOI Listing
October 2020

Successful use of an artificial placenta-based life support system to treat extremely preterm ovine fetuses compromised by intrauterine inflammation.

Am J Obstet Gynecol 2020 May 4. Epub 2020 May 4.

Division of Obstetrics and Gynecology, The University of Western Australia, Crawley, Western Australia, Australia; Center for Perinatal and Neonatal Medicine, Tohoku University Hospital, Sendai, Miyagi, Japan; School of Veterinary and Life Sciences, Murdoch University, Western Australia, Australia.

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http://dx.doi.org/10.1016/j.ajog.2020.04.036DOI Listing
May 2020

Ruxolitinib treatment of a patient with steroid-dependent severe autoimmunity due to STAT1 gain-of-function mutation.

Int J Hematol 2020 Aug 16;112(2):258-262. Epub 2020 Mar 16.

Department of Pediatrics, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, Japan.

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http://dx.doi.org/10.1007/s12185-020-02860-7DOI Listing
August 2020

Study profile of The Tohoku Medical Megabank Community-Based Cohort Study.

J Epidemiol 2020 Jan 11. Epub 2020 Jan 11.

Tohoku Medical Megabank Organization, Tohoku University.

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http://dx.doi.org/10.2188/jea.JE20190271DOI Listing
January 2020

Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2.

Eur J Med Genet 2020 Mar 16;63(3):103769. Epub 2019 Sep 16.

Department of Pediatric Neurology, Miyagi Children's Hospital, 4-3-17 Ochiai, Aoba-ku, Sendai-shi, Miyagi, 989-3126, Japan; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212193016
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http://dx.doi.org/10.1016/j.ejmg.2019.103769DOI Listing
March 2020

Effectiveness of seasonal inactivated influenza vaccination in Japanese schoolchildren: an epidemiologic study at the community level.

Hum Vaccin Immunother 2020 20;16(2):295-300. Epub 2019 Sep 20.

Department of Disaster Public Health, International Research Institute of Disaster Science, Tohoku University, Sendai, Miyagi, Japan.

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http://dx.doi.org/10.1080/21645515.2019.1655833DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7062418PMC
September 2019

Association of Feeding Practice with Childhood Overweight and/or Obesity in Affected Areas Before and After the Great East Japan Earthquake.

Breastfeed Med 2019 Jul/Aug;14(6):382-389. Epub 2019 Apr 13.

1 Department of Disaster Public Health, International Research Institute of Disaster Science, Tohoku University, Sendai, Japan.

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http://dx.doi.org/10.1089/bfm.2018.0254DOI Listing
April 2020

The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants.

Mol Genet Metab 2019 04 18;126(4):362-367. Epub 2019 Mar 18.

Department of Pediatrics, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi 980-8574, Japan; Tohoku Medical Megabank Organization, Tohoku University, 2-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi 980-8573, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.01.018DOI Listing
April 2019

Successful use of an artificial placenta to support extremely preterm ovine fetuses at the border of viability.

Am J Obstet Gynecol 2019 07 7;221(1):69.e1-69.e17. Epub 2019 Mar 7.

Division of Obstetrics and Gynecology, University of Western Australia, Crawley, Western Australia, Australia; Center for Perinatal and Neonatal Medicine, Tohoku University Hospital, Sendai, Miyagi, Japan; School of Veterinary and Life Sciences, Murdoch University, Western Australia, Australia.

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https://linkinghub.elsevier.com/retrieve/pii/S00029378193047
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http://dx.doi.org/10.1016/j.ajog.2019.03.001DOI Listing
July 2019

Tetrahydrobipterin-responsive phenylalanine hydroxylase deficiency.

J Hum Genet 2019 Feb 30;64(2):67-71. Epub 2018 Nov 30.

Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan.

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http://dx.doi.org/10.1038/s10038-018-0529-5DOI Listing
February 2019

Successful control of maternal phenylketonuria by tetrahydrobiopterin.

Pediatr Int 2018 Oct;60(10):985-986

Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.

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http://dx.doi.org/10.1111/ped.13678DOI Listing
October 2018

Reply to: Avoid valproate in patients with IARS2 mutations.

Brain Dev 2019 01 22;41(1):122. Epub 2018 Sep 22.

Department of Pediatrics, Tohoku University School of Medicine, 2-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi 980-8575, Japan.

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http://dx.doi.org/10.1016/j.braindev.2018.09.004DOI Listing
January 2019

Reply to: A genomic cause of cerebral palsy should not change the clinical classification.

Ann Clin Transl Neurol 2018 Aug 22;5(8):1012. Epub 2018 Jun 22.

Department of Pediatrics Tohoku University School of Medicine 2-1 Seiryo-machi, Aoba-ku Sendai Miyagi 980-8575 Japan.

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http://dx.doi.org/10.1002/acn3.585DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6093843PMC
August 2018

Menkes disease: Oral administration of glyoxal-bis(N(4)-methylthiosemicarbazonato)-copper(II) rescues the macular mouse.

Pediatr Res 2018 11 17;84(5):770-777. Epub 2018 Jul 17.

Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.

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http://dx.doi.org/10.1038/s41390-018-0116-7DOI Listing
November 2018

Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome.

Brain Dev 2018 Nov 2;40(10):934-938. Epub 2018 Jul 2.

Department of Pediatrics, Tohoku University School of Medicine, 2-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi 980-8575, Japan.

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http://dx.doi.org/10.1016/j.braindev.2018.06.010DOI Listing
November 2018

Asymptomatic left atrial appendage aneurysm (LAAA) with pericardial defect in a 1-year-old girl.

BMJ Case Rep 2018 Jun 4;2018. Epub 2018 Jun 4.

Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.

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http://dx.doi.org/10.1136/bcr-2018-224573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5990085PMC
June 2018

Successful Treatment of an Infant with Left Ventricular Noncompaction Presenting with Fatal Ventricular Arrhythmia Treated with Cardiac Resynchronization Therapy and an Implantable Cardioverter Defibrillator.

Case Rep Cardiol 2018 1;2018:9562326. Epub 2018 Apr 1.

Department of Pediatrics, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi 980-8574, Japan.

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http://dx.doi.org/10.1155/2018/9562326DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5902101PMC
April 2018

Three case reports of radiation-induced glioblastoma after complete remission of acute lymphoblastic leukemia.

Brain Tumor Pathol 2018 Apr 17;35(2):114-122. Epub 2018 Apr 17.

Department of Neurosurgery, Graduate School of Medicine, Tohoku University, 1-1 Seiryo-cho, Aoba-ku, Sendai, Miyagi, 980-8574, Japan.

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http://dx.doi.org/10.1007/s10014-018-0316-1DOI Listing
April 2018

Mental Development and Surgical Prognosis of Pai Syndrome: A Case Report and Review of the Literature.

Cleft Palate Craniofac J 2019 02 17;56(2):273-279. Epub 2018 Apr 17.

1 Department of Plastic and Reconstructive Surgery, Tohoku University Graduate School of Medicine, Sendai, Japan.

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http://dx.doi.org/10.1177/1055665618771419DOI Listing
February 2019

Severity of eczema and mental health problems in Japanese schoolchildren: The ToMMo Child Health Study.

Allergol Int 2018 Oct 13;67(4):481-486. Epub 2018 Apr 13.

Department of Disaster Public Health, International Research Institute of Disaster Science, Tohoku University, Sendai, Japan; Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan; Department of Molecular Epidemiology, Graduate School of Medicine, Tohoku University, Sendai, Japan.

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https://linkinghub.elsevier.com/retrieve/pii/S13238930183001
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http://dx.doi.org/10.1016/j.alit.2018.02.009DOI Listing
October 2018

A follow-up during puberty in a Japanese girl with type A insulin resistance due to a novel mutation in .

Clin Pediatr Endocrinol 2018 30;27(1):53-57. Epub 2018 Jan 30.

Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.

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http://dx.doi.org/10.1297/cpe.27.53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5792822PMC
January 2018

Somatic mosaic deletions involving SCN1A cause Dravet syndrome.

Am J Med Genet A 2018 03 17;176(3):657-662. Epub 2018 Jan 17.

Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan.

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http://dx.doi.org/10.1002/ajmg.a.38596DOI Listing
March 2018

Evolution into moyamoya disease in an infant with internal carotid artery aneurysms.

eNeurologicalSci 2017 Mar 31;6:80-82. Epub 2017 Jan 31.

Department of Pediatrics, Asahikawa Medical University, Asahikawa, Japan.

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http://dx.doi.org/10.1016/j.ensci.2017.01.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5721575PMC
March 2017

Parapharyngeal neuroglial heterotopia appearing as high uptake on F-FDG PET: case report and literature review of radiographical findings.

Acta Neurochir (Wien) 2018 04 2;160(4):801-809. Epub 2017 Dec 2.

Department of Neurosurgery, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8574, Japan.

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http://dx.doi.org/10.1007/s00701-017-3403-xDOI Listing
April 2018

Long-term outcome of a 26-year-old woman with West syndrome and an nuclear receptor subfamily 2 group F member 1 gene (NR2F1) mutation.

Seizure 2017 Aug 20;50:144-146. Epub 2017 Jun 20.

Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2017.06.018DOI Listing
August 2017

Mitochonic Acid 5 (MA-5) Facilitates ATP Synthase Oligomerization and Cell Survival in Various Mitochondrial Diseases.

EBioMedicine 2017 Jun 13;20:27-38. Epub 2017 May 13.

Division of Nephrology, Endocrinology and Vascular Medicine, Tohoku University Graduate School of Medicine, Sendai 980-8574, Japan; Department of Medical Science, Tohoku University Graduate School of Biomedical Engineering, Sendai 980-8574, Japan; Department of Clinical Biology and Hormonal Regulation, Tohoku University Graduate School of Medicine, Sendai 980-8574, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ebiom.2017.05.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5478234PMC
June 2017

Alterations in physique among young children after the Great East Japan Earthquake: Results from a nationwide survey.

J Epidemiol 2017 Oct 30;27(10):462-468. Epub 2017 May 30.

Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan; Department of Molecular Epidemiology, Graduate School of Medicine, Tohoku University, Sendai, Japan; Department of Disaster Public Health, International Research Institute of Disaster Science, Tohoku University, Sendai, Japan.

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http://dx.doi.org/10.1016/j.je.2016.09.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5602804PMC
October 2017

Responsiveness to pamidronate treatment is not related to the genotype of type I collagen in patients with osteogenesis imperfecta.

J Bone Miner Metab 2018 May 20;36(3):344-351. Epub 2017 May 20.

Department of Pediatric Endocrinology and Environmental Medicine, Tohoku University School of Medicine, Sendai, Japan.

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http://dx.doi.org/10.1007/s00774-017-0840-9DOI Listing
May 2018

Infantile hemangiopericytoma of the tongue-Efficacy of ex utero intrapartum treatment procedure and combined-modality therapy.

Auris Nasus Larynx 2018 Feb 30;45(1):186-189. Epub 2017 Mar 30.

Department of Otolaryngology-Head and Neck Surgery, Tohoku University Graduate School of Medicine, 2-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi 980-8575, Japan.

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http://dx.doi.org/10.1016/j.anl.2017.02.009DOI Listing
February 2018

Xp22.31 Microdeletion due to Microhomology-Mediated Break-Induced Replication in a Boy with Contiguous Gene Deletion Syndrome.

Cytogenet Genome Res 2017 3;151(1):1-4. Epub 2017 Mar 3.

Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

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http://dx.doi.org/10.1159/000458469DOI Listing
September 2017

Initial vasodilatation in a child with reversible cerebral vasoconstriction syndrome.

J Clin Neurosci 2017 May 10;39:108-110. Epub 2017 Feb 10.

Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.jocn.2017.01.010DOI Listing
May 2017

Central Venous Catheter-Related Bloodstream Infection with in a Patient with Propionic Acidemia.

Case Rep Infect Dis 2017 17;2017:1254175. Epub 2017 Jan 17.

Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Miyagi 980-8574, Japan.

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http://dx.doi.org/10.1155/2017/1254175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5282407PMC
January 2017

A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome.

J Hum Genet 2017 Jun 2;62(6):653-655. Epub 2017 Feb 2.

Department of Pediatric Neurology, Miyagi Children's Hospital, Miyagi, Japan.

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http://dx.doi.org/10.1038/jhg.2017.11DOI Listing
June 2017

Phenytoin-responsive epileptic encephalopathy with a tandem duplication involving .

Neurol Genet 2017 Feb 23;3(1):e133. Epub 2017 Jan 23.

Department of Pediatrics (R.-M.S.), the First Affiliated Hospital of Xi'an Jiaotong University, China; Division of Genomic Medicine Support and Genetic Counseling (T.K.), Department of Education and Training, Tohoku Medical Megabank Organization (ToMMo), Tohoku University; Department of Pediatrics (R.-M.S., T.K., A.K., R.S., M.U., S.K.), Tohoku University School of Medicine; and Department of Clinical Laboratory (K.A.), Tohoku University Hospital, Sendai, Japan.

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http://dx.doi.org/10.1212/NXG.0000000000000133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5260483PMC
February 2017

Reversible brain atrophy in glutaric aciduria type 1.

Brain Dev 2017 Jun 29;39(6):532-535. Epub 2017 Jan 29.

Department of Pediatrics, Tohoku University School of Medicine, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2017.01.003DOI Listing
June 2017

Design of the health examination survey on early childhood physical growth in the Great East Japan Earthquake affected areas.

J Epidemiol 2017 Mar 5;27(3):135-142. Epub 2017 Jan 5.

Tohoku Medical Megabank Organization (ToMMo), Tohoku University, Sendai, Japan; Department of Pediatrics, Graduate School of Medicine, Tohoku University, Sendai, Japan.

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http://dx.doi.org/10.1016/j.je.2016.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363786PMC
March 2017

Early RAAS Blockade Exerts Renoprotective Effects in Autosomal Recessive Alport Syndrome.

Tohoku J Exp Med 2016 11;240(3):251-257

Department of Pediatrics, Tohoku University School of Medicine.

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http://dx.doi.org/10.1620/tjem.240.251DOI Listing
November 2016

Right atrial ball thrombus after an intraatrial repair in a 3-year-old girl.

Cardiovasc Pathol 2016 Nov - Dec;25(6):522-524. Epub 2016 Oct 6.

Department of Pediatrics, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi 980-8574, Japan.

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https://linkinghub.elsevier.com/retrieve/pii/S10548807163012
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http://dx.doi.org/10.1016/j.carpath.2016.09.006DOI Listing
January 2017

Targeted Sequencing and Immunological Analysis Reveal the Involvement of Primary Immunodeficiency Genes in Pediatric IBD: a Japanese Multicenter Study.

J Clin Immunol 2017 01 17;37(1):67-79. Epub 2016 Oct 17.

Department of Pediatrics, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8574, Japan.

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http://dx.doi.org/10.1007/s10875-016-0339-5DOI Listing
January 2017

NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty.

Sex Dev 2016 21;10(4):205-209. Epub 2016 Sep 21.

Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

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http://dx.doi.org/10.1159/000448726DOI Listing
November 2017

Patchy white matter hyperintensity in ring chromosome 18 syndrome.

Pediatr Int 2016 Sep 31;58(9):919-22. Epub 2016 Aug 31.

Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Tohoku University School of Medicine, Sendai, Japan.

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http://dx.doi.org/10.1111/ped.13043DOI Listing
September 2016

An asymptomatic case of a single coronary artery in a 7-year-old girl.

Cardiol Young 2016 Oct 20;26(7):1428-9. Epub 2016 Jun 20.

Department of Pediatrics,Tohoku University Graduate School of Medicine,Sendai,Miyagi,Japan.

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http://dx.doi.org/10.1017/S1047951116000834DOI Listing
October 2016

Needs assessment for collaborative network in pediatric clinical research and education.

Pediatr Int 2017 Jan 9;59(1):74-79. Epub 2016 Sep 9.

Department of Health Policy, National Center for Child Health and Development, Tokyo, Japan.

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http://dx.doi.org/10.1111/ped.13050DOI Listing
January 2017