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Alu-mediated nonallelic homologous and nonhomologous recombination in the BMPR2 gene in heritable pulmonary arterial hypertension

Genetics in medicine, 2013-12, Vol.15 (12), p.941-947

2013

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Low risk of treatment resistance in Down syndrome with Kawasaki disease

Pediatrics international, 2017-12, Vol.59 (12), p.1236-1239

2017

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Incidence of febrile seizure in patients with Down syndrome

Pediatrics international, 2015-08, Vol.57 (4), p.670-672

2015

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Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants

American journal of medical genetics. Part A, 2021-06, Vol.185 (6), p.1836-1840

2021

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Current Status and Problems in the Genetic Analysis of Pulmonary Arterial Hypertension

JOURNAL OF THE KYORIN MEDICAL SOCIETY, 2013, Vol.44(2), pp.43-51

2013

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De Novo Mutations in the BMPR2 Gene in Patients with Heritable Pulmonary Arterial Hypertension

Annals of human genetics, 2015-03, Vol.79 (2), p.85-91

2015

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Abstract O.04: Kawasaki Disease With Down Syndrome:low Risk For Ivig Resistance And Coronary Artery Abnormalities

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

2015

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Incidence of febrile seizure in patients with D own syndrome

Pediatrics international, 2015-08, Vol.57 (4), p.670-672

2015

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Fortuitous detection of a submicroscopic deletion at 1q25 in a girl with Cornelia-de Lange syndrome carrying t(5;13)(p13.1;q12.1) by array-based comparative genomic hybridization

American journal of medical genetics. Part A, 2007-06, Vol.143A (11), p.1191-1197

2007

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Presymptomatic genetic analysis during pregnancy for vascular type Ehlers-Danlos syndrome

International medical case reports journal, 2014, Vol.7 (default), p.99-102

2014

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Epidemic hepatitis A in Japan: background and actions to be taken

Nihon rinshō, 2004-08, Vol.62 Suppl 8, p.448

2004

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肺動脈性肺高血圧症の遺伝解析の現状と問題点

杏林医学会雑誌, 2013, Vol.44(2), pp.43-51

2013

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Efficacy of Magnetic Resonance Coronary Angiography for Evaluation of Coronary Arterial Lesion in Infant to Adult Patients with Kawasaki Disease

Pediatric research, 2003-01, Vol.53 (1), p.184-184

2003

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Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants

American journal of medical genetics. Part A, 2021, Vol.185 (6), p.1836-1840

2021

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Brainstem pathology of infantile Gaucher's disease with only wave I and II of auditory brainstem response

Journal of laryngology and otology, 1998-11, Vol.112 (11), p.1069-1073

1998

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Presymptomatic genetic analysis during pregnancy for vascular type Ehlers-Danlos syndrome

International medical case reports journal, 2014, Vol.7, p.99-102

2014

Volltextzugriff (PDF)

Investigation of managed control states of pediatric asthma patients using modified Japanese Pediatric Asthma Control Program (JPAC)

Nihon Shoni Arerugi Gakkaishi. The Japanese Journal of Pediatric Allergy and Clinical Immunology, 2010, Vol.24(2), pp.231-240

2010

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On the Activities of the Leaf and Root of Tobacco Plants Grown at Different Solution Temperatures

Japanese Journal of Crop Science, 1971/06/28, Vol.40(2), pp.209-216

1971

Volltextzugriff (PDF)

The GlyCosmos Portal: a unified and comprehensive web resource for the glycosciences

Nature methods, 2020-07, Vol.17 (7), p.649

2020

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Structural basis for Na(+) transport mechanism by a light-driven Na(+) pump

Nature (London), 2015-05, Vol.521 (7550), p.48-53

2015

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Abstract 2265: Integration of glycan-related disease information and ECM protein-GAG interaction data into the GlyCosmos Portal

The Journal of biological chemistry, 2023, Vol.299 (3), p.103763, Article 103763

2023

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Involvement of a periodontal pathogen, Porphyromonas gingivalis on the pathogenesis of non-alcoholic fatty liver disease

BMC gastroenterology, 2012-02, Vol.12 (1), p.16-16, Article 16

2012

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Gentamicin-Induced Readthrough and Nonsense-Mediated mRNA Decay of SERPINB7 Nonsense Mutant Transcripts

Journal of investigative dermatology, 2018-04, Vol.138 (4), p.836-843

2018

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Invasive solid papillary carcinoma with neuroendocrine differentiation of the breast: a case report and literature review

Surgical case reports, 2020-06, Vol.6 (1), p.1-7, Article 143

2020

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Alu-mediated nonallelic homologous and nonhomologous recombination in the BMPR2 gene in heritable pulmonary arterial hypertension

Low risk of treatment resistance in Down syndrome with Kawasaki disease

Incidence of febrile seizure in patients with Down syndrome

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

Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants

Current Status and Problems in the Genetic Analysis of Pulmonary Arterial Hypertension

De Novo Mutations in the BMPR2 Gene in Patients with Heritable Pulmonary Arterial Hypertension

Abstract O.04: Kawasaki Disease With Down Syndrome:low Risk For Ivig Resistance And Coronary Artery Abnormalities

Incidence of febrile seizure in patients with D own syndrome

Fortuitous detection of a submicroscopic deletion at 1q25 in a girl with Cornelia-de Lange syndrome carrying t(5;13)(p13.1;q12.1) by array-based comparative genomic hybridization

Presymptomatic genetic analysis during pregnancy for vascular type Ehlers-Danlos syndrome

Epidemic hepatitis A in Japan: background and actions to be taken

肺動脈性肺高血圧症の遺伝解析の現状と問題点

Efficacy of Magnetic Resonance Coronary Angiography for Evaluation of Coronary Arterial Lesion in Infant to Adult Patients with Kawasaki Disease

Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants

Brainstem pathology of infantile Gaucher's disease with only wave I and II of auditory brainstem response

Presymptomatic genetic analysis during pregnancy for vascular type Ehlers-Danlos syndrome

Investigation of managed control states of pediatric asthma patients using modified Japanese Pediatric Asthma Control Program (JPAC)

On the Activities of the Leaf and Root of Tobacco Plants Grown at Different Solution Temperatures

The GlyCosmos Portal: a unified and comprehensive web resource for the glycosciences

Structural basis for Na(+) transport mechanism by a light-driven Na(+) pump

Abstract 2265: Integration of glycan-related disease information and ECM protein-GAG interaction data into the GlyCosmos Portal

Involvement of a periodontal pathogen, Porphyromonas gingivalis on the pathogenesis of non-alcoholic fatty liver disease

Gentamicin-Induced Readthrough and Nonsense-Mediated mRNA Decay of SERPINB7 Nonsense Mutant Transcripts

Invasive solid papillary carcinoma with neuroendocrine differentiation of the breast: a case report and literature review

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