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Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome

BMC medical genomics, 2023-03, Vol.16 (1), p.43-43, Article 43

2023

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Interstitial deletion within 7q31.1q31.3 in a woman with mild intellectual disability and schizophrenia

Neuropsychiatric disease and treatment, 2018-01, Vol.14, p.1773-1778

2018

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Acute neuropsychiatric disorders in adolescents and young adults with Down syndrome: Japanese case reports

Neuropsychiatric disease and treatment, 2012-01, Vol.8 (default), p.339-345

2012

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The effect of noninvasive positive pressure ventilation in children with severe motor and intellectual disabilities with respiratory insufficiency

No to hattatsu, 2012-07, Vol.44 (4), p.284

2012

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EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma

American journal of medical genetics, 2003-07, Vol.120A (3), p.370-373

2003

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Interstitial deletion within 7q31.1q31.3 in a woman with mild intellectual disability and schizophrenia

Neuropsychiatric disease and treatment, 2018, Vol.14, p.1773-1778

2018

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A woman with 46,XX,dup(16)(p13.11 p13.3) and the ATR‐X phenotype

American journal of medical genetics, 2005-02, Vol.132A (4), p.414-418

2005

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Mosaic supernumerary inv dup(15) chromosome with four copies of the P gene in a boy with pigmentary dysplasia

American journal of medical genetics, 2004-04, Vol.126A (3), p.290-292

2004

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Acute neuropsychiatric disorders in adolescents and young adults with Down syndrome: Japanese case reports

Neuropsychiatric disease and treatment, 2012, Vol.8, p.339-345

2012

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Mosaic supernumerary inv dup(15) chromosome with four copies of the P gene in a boy with pigmentary dysplasia

American journal of medical genetics, 2004, Vol.124A (3), p.290-292

2004

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Duplication of 15q11.2-q14, including the P gene, in a woman with generalized skin hyperpigmentation

American journal of medical genetics, 2001-12, Vol.104 (4), p.299-302

2001

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Duplication of 15q11.2-q14, including theP gene, in a woman with generalized skin hyperpigmentation

American journal of medical genetics, 2001-12, Vol.104 (4), p.299-302

2001

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A woman with 46,XX,dup(16)(p13.11 p13.3) and the ATR-X phenotype

American Journal of Medical Genetics Part A, 2005, Vol.132A (4), p.414-418

2005

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Mosaic supernumerary inv dup(15) chromosome with four copies of the P gene in a boy with pigmentary dysplasia

American Journal of Medical Genetics Part A, 2004, Vol.126A (3), p.290-292

2004

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Woman with UV hypersensitivity and a de novo unbalanced chromosome translocation

American journal of medical genetics, 2001-06, Vol.101 (2), p.153-157

2001

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Containment of COVID-19 outbreaks with lower incidence and case fatality rates in long-term care facilities by early intervention of emergency response teams

PloS one, 2023-06, Vol.18 (6), p.e0287675-e0287675

2023

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Serum interleukin‐6 associated with hepatocellular carcinoma risk: A nested case–control study

International journal of cancer, 2014-01, Vol.134 (1), p.154-163

2014

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Broad Recognition of Circulating HIV-1 by HIV-1-Specific Cytotoxic T-Lymphocytes with Strong Ability to Suppress HIV-1 Replication

Journal of virology, 2019-01, Vol.93 (1)

2019

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GWAS for systemic sclerosis identifies six novel susceptibility loci including one in the Fcγ receptor region

Nature communications, 2024-01, Vol.15 (1), p.319-319, Article 319

2024

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The Gα12/13-coupled receptor LPA4 limits proper adipose tissue expansion and remodeling in diet-induced obesity

JCI insight, 2018-12, Vol.3 (24)

2018

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Results of the interim analysis of a prospective, multicenter, observational study of small subepithelial lesions in the stomach

Digestive endoscopy, 2024-03, Vol.36 (3), p.323-331

2024

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Functional SNPs in the distal promoter of the ST2 gene are associated with atopic dermatitis

Human molecular genetics, 2005-10, Vol.14 (19), p.2919-2927

2005

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HLA Class I-Mediated HIV-1 Control in Vietnamese Infected with HIV-1 Subtype A/E

Journal of virology, 2018-03, Vol.92 (5)

2018

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Effects of Music Therapy in Frail Elderlies: Controlled Crossover Study

Dementia and geriatric cognitive disorders extra, 2019-01, Vol.9 (1), p.87-99

2019

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A strong association of human leukocyte antigen-associated Pol and Gag mutations with clinical parameters in HIV-1 subtype A/E infection

AIDS (London), 2016-03, Vol.30 (5), p.681-689

2016

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Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome

Interstitial deletion within 7q31.1q31.3 in a woman with mild intellectual disability and schizophrenia

Acute neuropsychiatric disorders in adolescents and young adults with Down syndrome: Japanese case reports

The effect of noninvasive positive pressure ventilation in children with severe motor and intellectual disabilities with respiratory insufficiency

EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma

Interstitial deletion within 7q31.1q31.3 in a woman with mild intellectual disability and schizophrenia

A woman with 46,XX,dup(16)(p13.11 p13.3) and the ATR‐X phenotype

Mosaic supernumerary inv dup(15) chromosome with four copies of the P gene in a boy with pigmentary dysplasia

Acute neuropsychiatric disorders in adolescents and young adults with Down syndrome: Japanese case reports

Mosaic supernumerary inv dup(15) chromosome with four copies of the P gene in a boy with pigmentary dysplasia

Duplication of 15q11.2-q14, including the P gene, in a woman with generalized skin hyperpigmentation

Duplication of 15q11.2-q14, including theP gene, in a woman with generalized skin hyperpigmentation

A woman with 46,XX,dup(16)(p13.11 p13.3) and the ATR-X phenotype

Mosaic supernumerary inv dup(15) chromosome with four copies of the P gene in a boy with pigmentary dysplasia

Woman with UV hypersensitivity and a de novo unbalanced chromosome translocation

Containment of COVID-19 outbreaks with lower incidence and case fatality rates in long-term care facilities by early intervention of emergency response teams

Serum interleukin‐6 associated with hepatocellular carcinoma risk: A nested case–control study

Broad Recognition of Circulating HIV-1 by HIV-1-Specific Cytotoxic T-Lymphocytes with Strong Ability to Suppress HIV-1 Replication

GWAS for systemic sclerosis identifies six novel susceptibility loci including one in the Fcγ receptor region

The Gα12/13-coupled receptor LPA4 limits proper adipose tissue expansion and remodeling in diet-induced obesity

Results of the interim analysis of a prospective, multicenter, observational study of small subepithelial lesions in the stomach

Functional SNPs in the distal promoter of the ST2 gene are associated with atopic dermatitis

HLA Class I-Mediated HIV-1 Control in Vietnamese Infected with HIV-1 Subtype A/E

Effects of Music Therapy in Frail Elderlies: Controlled Crossover Study

A strong association of human leukocyte antigen-associated Pol and Gag mutations with clinical parameters in HIV-1 subtype A/E infection

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