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Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures

Journal of human genetics, 2022-09, Vol.67 (9), p.505-513

2022

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Tumor predisposition in an individual with chromosomal rearrangements of 1q31.2‐q41 encompassing cell division cycle protein 73

Congenital anomalies, 2020-07, Vol.60 (4), p.128-130

2020

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A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome

Human genome variation, 2022-07, Vol.9 (1), p.26-26, Article 26

2022

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Developmental delay and dysmorphic features in a girl with a de novo 5.4 Mb deletion of 13q12.11‐q12.13

Congenital anomalies, 2020-03, Vol.60 (2), p.73-74

2020

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Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5

Human genome variation, 2019-08, Vol.6 (1), p.36-36, Article 36

2019

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Novel USP9X variants in two patients with X-linked intellectual disability

Human genome variation, 2019-10, Vol.6 (1), p.49-49, Article 49

2019

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A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay

Human genome variation, 2023-10, Vol.10 (1), p.27-27, Article 27

2023

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Trends in occurrence of twin births in Japan

American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.75-77

2012

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Sirenomelia with a de novo balanced translocation 46,X,t(X;16)(p11.23;p12.3)

Congenital anomalies, 2012-06, Vol.52 (2), p.106-110

2012

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A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR

Human genetics, 1999-01, Vol.104 (1), p.49-55

1999

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Ehlers‐Danlos syndrome, vascular type: A novel missense mutation in the COL3A1 gene

Congenital anomalies, 2012-12, Vol.52 (4), p.207-210

2012

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Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: Report of two cases and review of the literature

Congenital anomalies, 2009-03, Vol.49 (1), p.8-14

2009

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Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain

Nature genetics, 1997-10, Vol.17 (2), p.146-148

1997

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Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome

Brain & development (Tokyo. 1979), 2005-08, Vol.27 (5), p.378-382

2005

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Spastic quadriplegia in Down syndrome with congenital duodenal stenosis/atresia

Congenital anomalies, 2012-06, Vol.52 (2), p.78-81

2012

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Further delineation of the behavioral and neurologic features in Costello syndrome

American journal of medical genetics. Part A, 2003-04, Vol.118A (1), p.8-14

2003

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Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome

American journal of medical genetics. Part A, 2020-10, Vol.182 (10), p.2333-2344

2020

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Severe upper airway stenosis in a boy with partial monosomy 16p13.3pter and partial trisomy 16q22qter

Congenital anomalies, 2009-06, Vol.49 (2), p.85-88

2009

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Haploinsufficiency of NSD1 causes Sotos syndrome

Nature genetics, 2002-04, Vol.30 (4), p.365-366

2002

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Home-based subcutaneous immunoglobulin after switch from intravenous immunoglobulin improved quality of life in pediatric patient with common variable immunodeficiency A case report

KAWASAKI MEDICAL JOURNAL, 2020, Vol.46, p.35-39

2020

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Gonadal sex cord stromal tumor in a patient with Rubinstein−Taybi syndrome

Pediatrics international, 2002-06, Vol.44 (3), p.330-332

2002

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Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features

American journal of medical genetics. Part A, 2015-02, Vol.167A (2), p.389-393

2015

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De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity

American journal of medical genetics. Part A, 2014-06, Vol.164A (6), p.1550-1554

2014

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Case reports of pregnancies complicated with kidney disease and their fetal prognosis

KAWASAKI MEDICAL JOURNAL, 2021, Vol.47, p.33-39

2021

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Genetic association analysis of 77,539 genomes reveals rare disease etiologies

Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures

Tumor predisposition in an individual with chromosomal rearrangements of 1q31.2‐q41 encompassing cell division cycle protein 73

A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome

Developmental delay and dysmorphic features in a girl with a de novo 5.4 Mb deletion of 13q12.11‐q12.13

Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5

Novel USP9X variants in two patients with X-linked intellectual disability

A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay

Trends in occurrence of twin births in Japan

Sirenomelia with a de novo balanced translocation 46,X,t(X;16)(p11.23;p12.3)

A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR

Ehlers‐Danlos syndrome, vascular type: A novel missense mutation in the COL3A1 gene

Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: Report of two cases and review of the literature

Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain

Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome

Spastic quadriplegia in Down syndrome with congenital duodenal stenosis/atresia

Further delineation of the behavioral and neurologic features in Costello syndrome

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome

Severe upper airway stenosis in a boy with partial monosomy 16p13.3pter and partial trisomy 16q22qter

Haploinsufficiency of NSD1 causes Sotos syndrome

Home-based subcutaneous immunoglobulin after switch from intravenous immunoglobulin improved quality of life in pediatric patient with common variable immunodeficiency A case report

Gonadal sex cord stromal tumor in a patient with Rubinstein−Taybi syndrome

Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features

De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity

Case reports of pregnancies complicated with kidney disease and their fetal prognosis

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