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Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome

American journal of human genetics, 2000, Vol.66 (2), p.402-412

2000

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Increased expression of extracellular proteins as a hallmark of human endothelial cell in vitro senescence

Experimental gerontology, 2006-05, Vol.41 (5), p.474-481

2006

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7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome

The Journal of clinical investigation, 2001-09, Vol.108 (6), p.905-915

2001

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Genetic Defects in Postsqualene Cholesterol Biosynthesis

Trends in Endocrinology & Metabolism, 2000-04, Vol.11 (3), p.106-114

2000

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Molecular Cloning and Expression of the Human Δ 7-sterol Reductase

Proceedings of the National Academy of Sciences - PNAS, 1998-02, Vol.95 (4), p.1899-1902

1998

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Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations

European journal of human genetics : EJHG, 2001-01, Vol.9 (1), p.45-50

2001

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Cholesterol biosynthesis from lanosterol. Molecular cloning, tissue distribution, expression, chromosomal localization, and regulation of rat 7-dehydrocholesterol reductase, a Smith-Lemli-Opitz syndrome-related protein

The Journal of biological chemistry, 1999-05, Vol.274 (21), p.14624-14631

1999

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7-Dehydrocholesterol–dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome

The Journal of clinical investigation, 2001-09, Vol.108 (6), p.905-915

2001

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Molecular genetics of the Smith-Lemli-Opitz syndrome and postsqualene sterol metabolism

Current opinion in lipidology, 1999-04, Vol.10 (2), p.123-132

1999

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Mutations in the Δ 7-sterol Reductase Gene in Patients with the Smith--Lemli--Opitz Syndrome

Proceedings of the National Academy of Sciences - PNAS, 1998-07, Vol.95 (14), p.8181-8186

1998

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Molecular cloning and expression of the human delta7-sterol reductase

Proceedings of the National Academy of Sciences - PNAS, 1998-02, Vol.95 (4), p.1899-1902

1998

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Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome

Proceedings of the National Academy of Sciences - PNAS, 1998-07, Vol.95 (14), p.8181

1998

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Nucleotide sequence and map position of the duplicated gene for chloroplast ribosomal protein S15 in Zea mays (maize)

Nucleic acids research, 1990-01, Vol.18 (11), p.3407-3407

1990

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Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome

American journal of human genetics, 2000-02, Vol.66 (2), p.402-412

2000

Volltextzugriff (PDF)

Cholesterol biosynthesis from lanosterol. Molecular cloning, tissue distribution, expression, chromosomal localization, and regulation of rat 7-dehydrocholesterol reductase, a Smith-Lemli-Opitz syndrome-related protein

The Journal of biological chemistry, 1999-07, Vol.274 (31), p.22122-22122

1999

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Nucleotide sequence and map positions of the duplicated gene for chloroplast ribosomal protein S15 in Zea mays (maize)

Nucleic acids research, 1990-06, Vol.18 (11), p.3407-3407

1990

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ErratumGenetic Defects in Postsqualene Cholesterol Biosynthesis

Trends in endocrinology and metabolism, 2000-05, Vol.11 (4), p.150-150

2000

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Combined effects of ozone and drought stress on the emission of biogenic volatile organic compounds from Quercus robur L

Biogeosciences, 2021-01, Vol.18 (2), p.535-556

2021

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Study on the Characteristics of ICP-PECVD Boron Silicate Glasses Dependent on Diborane Flux

ECS journal of solid state science and technology, 2016, Vol.5 (10), p.N81-N89

2016

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Radical Anion Salts of Naphthalenetetracarboxylic Acid Derivatives-a Novel Class of Electrically Conducting Compounds

Angewandte Chemie (International ed.), 1989-04, Vol.28 (4), p.483-485

1989

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Radikalanionensalze von Naphthalintetracarbonsäure-Derivaten - eine neue Klasse elektrisch leitfähiger Verbindungen

Angewandte Chemie, 1989-04, Vol.101 (4), p.462-464

1989

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ChemInform Abstract: Radical Anion Salts of Naphthalenetetracarboxylic Acid Derivatives ‐ A Novel Class of Electrically Conducting Compounds

ChemInform, 1989-07, Vol.20 (29), p.no-no

1989

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Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome

Increased expression of extracellular proteins as a hallmark of human endothelial cell in vitro senescence

7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome

Genetic Defects in Postsqualene Cholesterol Biosynthesis

Molecular Cloning and Expression of the Human Δ 7-sterol Reductase

Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations

Cholesterol biosynthesis from lanosterol. Molecular cloning, tissue distribution, expression, chromosomal localization, and regulation of rat 7-dehydrocholesterol reductase, a Smith-Lemli-Opitz syndrome-related protein

7-Dehydrocholesterol–dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome

Molecular genetics of the Smith-Lemli-Opitz syndrome and postsqualene sterol metabolism

Mutations in the Δ 7-sterol Reductase Gene in Patients with the Smith--Lemli--Opitz Syndrome

Molecular cloning and expression of the human delta7-sterol reductase

Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome

Nucleotide sequence and map position of the duplicated gene for chloroplast ribosomal protein S15 in Zea mays (maize)

Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome

Cholesterol biosynthesis from lanosterol. Molecular cloning, tissue distribution, expression, chromosomal localization, and regulation of rat 7-dehydrocholesterol reductase, a Smith-Lemli-Opitz syndrome-related protein

Nucleotide sequence and map positions of the duplicated gene for chloroplast ribosomal protein S15 in Zea mays (maize)

ErratumGenetic Defects in Postsqualene Cholesterol Biosynthesis

Combined effects of ozone and drought stress on the emission of biogenic volatile organic compounds from Quercus robur L

Study on the Characteristics of ICP-PECVD Boron Silicate Glasses Dependent on Diborane Flux

Radical Anion Salts of Naphthalenetetracarboxylic Acid Derivatives-a Novel Class of Electrically Conducting Compounds

Radikalanionensalze von Naphthalintetracarbonsäure-Derivaten - eine neue Klasse elektrisch leitfähiger Verbindungen

ChemInform Abstract: Radical Anion Salts of Naphthalenetetracarboxylic Acid Derivatives ‐ A Novel Class of Electrically Conducting Compounds

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