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Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase

Human mutation, 2008-02, Vol.29 (2), p.330-331

2008

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Requirement of voltage-dependent anion channel 2 for pro-apoptotic activity of Bax

Oncogene, 2009-10, Vol.28 (40), p.3563-3572

2009

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FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome

Clinical genetics, 2017-04, Vol.91 (4), p.634-639

2017

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Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII

Human genetics, 2000-01, Vol.106 (1), p.19-28

2000

Volltextzugriff (PDF)

Suboptimal mitochondrial function in depression

Mitochondrion, 2015-09, Vol.24, p.S27

2015

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Tissue-dependent alterations in lipid mass in mice lacking glycerol kinase

Lipids, 2005-03, Vol.40 (3), p.287-293

2005

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Isolation, Characterization, and Mapping of Two Mouse Mitochondrial Voltage-Dependent Anion Channel Isoforms

Genomics (San Diego, Calif.), 1996-04, Vol.33 (2), p.283-288

1996

Volltextzugriff (PDF)

Chapter 13 - Mitochondrial Disorders Causing Cardioskeletal Myopathies in Childhood

Cardioskeletal Myopathies in Children and Young Adults, 2017, p.251-264

2017

Volltextzugriff (PDF)

A Novel Mouse Mitochondrial Voltage-Dependent Anion Channel Gene Localizes to Chromosome 8

Genomics (San Diego, Calif.), 1996-08, Vol.36 (1), p.192-196

1996

Volltextzugriff (PDF)

Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII

Human genetics, 2000-01, Vol.106 (1), p.19-28

2000

Volltextzugriff (PDF)

Ectopic correction of ornithine transcarbamylase deficiency in sparse fur mice

The Journal of biological chemistry, 1990-08, Vol.265 (24), p.14684-14690

1990

Volltextzugriff (PDF)

A dual FISH assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci

Genetics in medicine, 1999-01, Vol.1 (2), p.46

1999

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3-Hydroxy-3-methylglutaryl-CoA lyase deficiency as detected by radiochemical assay in cell extracts by thin-layer chromatography, and identification of three new cases

Clinical chemistry (Baltimore, Md.), 1990-02, Vol.36 (2), p.297

1990

Volltextzugriff (PDF)

Rapid and precise mapping of the Escherichia coli release factor genes by two physical approaches

Journal of Bacteriology, 1988-10, Vol.170 (10), p.4537-4541

1988

Volltextzugriff (PDF)

Importance of measuring plasma cholesterol precursors

American journal of medical genetics, 1999-01, Vol.82 (2), p.199-199

1999

Volltextzugriff (PDF)

De novo proximal interstitial deletions of 14q: Cytogenetic and molecular investigations

American journal of medical genetics, 1994-08, Vol.52 (1), p.44-50

1994

Volltextzugriff (PDF)

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Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase

Requirement of voltage-dependent anion channel 2 for pro-apoptotic activity of Bax

FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome

Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII

Suboptimal mitochondrial function in depression

Tissue-dependent alterations in lipid mass in mice lacking glycerol kinase

Isolation, Characterization, and Mapping of Two Mouse Mitochondrial Voltage-Dependent Anion Channel Isoforms

Chapter 13 - Mitochondrial Disorders Causing Cardioskeletal Myopathies in Childhood

A Novel Mouse Mitochondrial Voltage-Dependent Anion Channel Gene Localizes to Chromosome 8

Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII

Ectopic correction of ornithine transcarbamylase deficiency in sparse fur mice

A dual FISH assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci

3-Hydroxy-3-methylglutaryl-CoA lyase deficiency as detected by radiochemical assay in cell extracts by thin-layer chromatography, and identification of three new cases

Rapid and precise mapping of the Escherichia coli release factor genes by two physical approaches

Importance of measuring plasma cholesterol precursors

De novo proximal interstitial deletions of 14q: Cytogenetic and molecular investigations

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