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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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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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Neonatal management of trisomy 18: Clinical details of 24 patients receiving intensive treatment

American journal of medical genetics. Part A, 2006-05, Vol.140A (9), p.937-944

2006

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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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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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A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients

American journal of human genetics, 1991-12, Vol.49 (6), p.1378-1380

1991

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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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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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Phenotypic spectrum and management issues in Kabuki syndrome

The Journal of pediatrics, 1999-04, Vol.134 (4), p.480-485

1999

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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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A mild variant of Desbuquois dysplasia

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

1999

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

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

2005

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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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Elevated catecholamine metabolites in patients with Costello syndrome

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

2004

Volltextzugriff (PDF)

Clinical spectrum and management of holoprosencephaly

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

2000

Volltextzugriff (PDF)

Graves' disease in patients with 22q11.2 deletion

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

2001

Volltextzugriff (PDF)

Very Late DNA Replication in the Human Cell Cycle

Proceedings of the National Academy of Sciences - PNAS, 1998-09, Vol.95 (19), p.11246-11250

1998

Volltextzugriff (PDF)

Molecular analysis of Japanese patients with metachromatic leukodystrophy

Nihon rinshō, 1993-09, Vol.51 (9), p.2314

1993

Volltextzugriff (PDF)

Allele-specific replication timing in imprinted domains: absence of asynchrony at several loci

Human molecular genetics, 1995-12, Vol.4 (12), p.2287-2293

1995

Volltextzugriff (PDF)

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

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

2002

Volltextzugriff (PDF)

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)

Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms

Human genetics, 1992-11, Vol.90 (3), p.294-296

1992

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Germline mutations in HRAS proto-oncogene cause Costello syndrome

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

Neonatal management of trisomy 18: Clinical details of 24 patients receiving intensive treatment

Phenotypic spectrum of CHARGE syndrome with CHD7 mutations

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

A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients

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

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

Phenotypic spectrum and management issues in Kabuki syndrome

BAC array CGH reveals genomic aberrations in idiopathic mental retardation

A mild variant of Desbuquois dysplasia

Mutation screening of 17 Japanese patients with neuropathic Gaucher disease

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

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

Further delineation of the behavioral and neurologic features in Costello syndrome

Elevated catecholamine metabolites in patients with Costello syndrome

Clinical spectrum and management of holoprosencephaly

Graves' disease in patients with 22q11.2 deletion

Very Late DNA Replication in the Human Cell Cycle

Molecular analysis of Japanese patients with metachromatic leukodystrophy

Allele-specific replication timing in imprinted domains: absence of asynchrony at several loci

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

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

Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms

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