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Automated color inspection system for color CRT displays

Proceedings of the 1992 International Conference on Industrial Electronics, Control, Instrumentation, and Automation, 1992, p.725-730 vol.2

1992

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Germline mutations in HRAS proto-oncogene cause Costello syndrome

Nature genetics, 2005-10, Vol.37 (10), p.1038-1040

2005

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Phenotypic spectrum of CHARGE syndrome with CHD7 mutations

The Journal of pediatrics, 2006-03, Vol.148 (3), p.410-414

2006

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Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia

Journal of human genetics, 2005-04, Vol.50 (4), p.192-202

2005

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Genome analyses for the Tohoku Medical Megabank Project towards establishment of personalized healthcare

Journal of biochemistry (Tokyo), 2019-02, Vol.165 (2), p.139

2019

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Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome

Journal of human genetics, 2008-09, Vol.53 (9), p.834-841

2008

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BAC array CGH reveals genomic aberrations in idiopathic mental retardation

American journal of medical genetics. Part A, 2006-02, Vol.140A (3), p.205-211

2006

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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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Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation

Journal of medical genetics, 2004-02, Vol.41 (2), p.130-136

2004

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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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Preferential Paternal Origin of Microdeletions Caused by Prezygotic Chromosome or Chromatid Rearrangements in Sotos Syndrome

American journal of human genetics, 2003-05, Vol.72 (5), p.1331-1337

2003

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Synthesis and absorption spectra of large homogeneous single crystals of forsterite doped with manganese

Journal of crystal growth, 2007-06, Vol.304 (2), p.492-496

2007

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Graves' disease in patients with 22q11.2 deletion

The Journal of pediatrics, 2001-12, Vol.139 (6), p.892-895

2001

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Elevated catecholamine metabolites in patients with Costello syndrome

American journal of medical genetics. Part A, 2004-07, Vol.128A (1), p.48-51

2004

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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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Syndrome of microcephaly, Dandy-Walker malformation, and Wilms tumor caused by mosaic variegated aneuploidy with premature centromere division (PCD): report of a new case and review of the literature

Journal of human genetics, 1999-01, Vol.44 (4), p.219-224

1999

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First synthesis of olivine single crystal as large as 250 carats

Journal of crystal growth, 2003-06, Vol.253 (1), p.557-561

2003

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Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients : absence of the common Jewish 84GG and 1226G mutations

Human genetics, 1995-06, Vol.95 (6), p.717-720

1995

Volltextzugriff (PDF)

First synthesis of olivine single crystal as large as 250carats

Journal of crystal growth, 2003-06, Vol.253 (1-4), p.557-561

2003

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Mitochondrial encephalomyopathies preceded by de-Toni-Debré-Fanconi syndrome or focal segmental glomerulosclerosis

Clinical nephrology, 1996-11, Vol.46 (5), p.347

1996

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Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations

Journal of inherited metabolic disease, 1997-03, Vol.20 (1), p.67-73

1997

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Mutation screening of 17 Japanese patients with neuropathic Gaucher disease

Human genetics, 1996-08, Vol.98 (2), p.167-171

1996

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Clinical spectrum and management of holoprosencephaly

No to hattatsu, 2000-07, Vol.32 (4), p.301

2000

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A mild variant of Desbuquois dysplasia

European journal of pediatrics, 1999-06, Vol.158 (6), p.479-483

1999

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Automated color inspection system for color CRT displays

Germline mutations in HRAS proto-oncogene cause Costello syndrome

Phenotypic spectrum of CHARGE syndrome with CHD7 mutations

Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia

Genome analyses for the Tohoku Medical Megabank Project towards establishment of personalized healthcare

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome

BAC array CGH reveals genomic aberrations in idiopathic mental retardation

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

Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation

Further delineation of the behavioral and neurologic features in Costello syndrome

Preferential Paternal Origin of Microdeletions Caused by Prezygotic Chromosome or Chromatid Rearrangements in Sotos Syndrome

Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion

Synthesis and absorption spectra of large homogeneous single crystals of forsterite doped with manganese

Graves' disease in patients with 22q11.2 deletion

Elevated catecholamine metabolites in patients with Costello syndrome

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

Syndrome of microcephaly, Dandy-Walker malformation, and Wilms tumor caused by mosaic variegated aneuploidy with premature centromere division (PCD): report of a new case and review of the literature

First synthesis of olivine single crystal as large as 250 carats

Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients : absence of the common Jewish 84GG and 1226G mutations

First synthesis of olivine single crystal as large as 250carats

Mitochondrial encephalomyopathies preceded by de-Toni-Debré-Fanconi syndrome or focal segmental glomerulosclerosis

Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations

Mutation screening of 17 Japanese patients with neuropathic Gaucher disease

Clinical spectrum and management of holoprosencephaly

A mild variant of Desbuquois dysplasia

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