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A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies

American journal of medical genetics. Part A, 2017-09, Vol.173 (9), p.2528-2533

2017

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Novel HEXA mutation in a Bedouin Tay-Sachs patient associated with exon skipping and reduced transcript level

Human mutation, 1997, Vol.9 (3), p.260-264

1997

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Structure and Expression of the Mouse β-Hexosaminidase Genes, Hexa and Hexb

Genomics (San Diego, Calif.), 1994-06, Vol.21 (3), p.588-596

1994

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The molecular basis of HEXA mRNA deficiency caused by the most common Tay-Sachs disease mutation

American journal of human genetics, 1995-03, Vol.56 (3), p.716-724

1995

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Clinical variation in X-linked adrenoleukodystrophy: Fatty acid and lipid metabolism in cultured fibroblasts

Biochemical medicine and metabolic biology, 1991-02, Vol.45 (1), p.74-91

1991

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Dietary Fatty Acids Temporarily Alter Liver Very Long-Chain Fatty Acid Composition in Mice1

The Journal of nutrition, 1992-08, Vol.122 (8), p.1662-1671

1992

Volltextzugriff (PDF)

NovelHEXA mutation in a Bedouin Tay-Sachs patient associated with exon skipping and reduced transcript level

Human mutation, 1997, Vol.9 (3), p.260-264

1997

Volltextzugriff (PDF)

Dietary fatty acids temporarily alter liver very long-chain fatty acid composition in mice

The Journal of nutrition, 1992-08, Vol.122 (8), p.1662-1671

1992

Volltextzugriff (PDF)

Lipid and fatty acid metabolism in X-linked adrenoleukodystrophy

Boles, Debra J

1989

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Goldenhar complex in discordant monozygotic twins: A case report and review of the literature

American journal of medical genetics, 1987-09, Vol.28 (1), p.103-109

1987

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Health behaviors and weight status among urban and rural children

Rural and remote health, 2008-04, Vol.8 (2), p.810-810

2008

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Use of Genetically Modified Organism (GMO)-Containing Food Products in Children

Pediatrics (Evanston), 2024-01, Vol.153 (1), p.1

2024

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Cerebral Blood Flow and Personality: A Positron Emission Tomography Study

The American journal of psychiatry, 1999-02, Vol.156 (2), p.252-257

1999

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Incidence and patterns of ALK FISH abnormalities seen in a large unselected series of lung carcinomas

Molecular cytogenetics, 2012, Vol.5 (1), p.44-44

2012

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Human leukocyte antigen sensitization after structural cortical allograft implantations

Clinical orthopaedics and related research, 2005-06 (435), p.31-35

2005

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Molecular cytogenetic characterization of two small supernumerary marker chromosomes derived from chromosome 19

American journal of medical genetics. Part A, 2009-02, Vol.149A (2), p.262-265

2009

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A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies

Novel HEXA mutation in a Bedouin Tay-Sachs patient associated with exon skipping and reduced transcript level

Structure and Expression of the Mouse β-Hexosaminidase Genes, Hexa and Hexb

The molecular basis of HEXA mRNA deficiency caused by the most common Tay-Sachs disease mutation

Clinical variation in X-linked adrenoleukodystrophy: Fatty acid and lipid metabolism in cultured fibroblasts

Dietary Fatty Acids Temporarily Alter Liver Very Long-Chain Fatty Acid Composition in Mice1

NovelHEXA mutation in a Bedouin Tay-Sachs patient associated with exon skipping and reduced transcript level

Dietary fatty acids temporarily alter liver very long-chain fatty acid composition in mice

Lipid and fatty acid metabolism in X-linked adrenoleukodystrophy

Goldenhar complex in discordant monozygotic twins: A case report and review of the literature

Health behaviors and weight status among urban and rural children

Use of Genetically Modified Organism (GMO)-Containing Food Products in Children

Cerebral Blood Flow and Personality: A Positron Emission Tomography Study

Incidence and patterns of ALK FISH abnormalities seen in a large unselected series of lung carcinomas

Human leukocyte antigen sensitization after structural cortical allograft implantations

Molecular cytogenetic characterization of two small supernumerary marker chromosomes derived from chromosome 19

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