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Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data

Clinical genetics, 2017-08, Vol.92 (2), p.188-198

2017

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22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH

American journal of medical genetics. Part A, 2010-03, Vol.152A (3), p.573-581

2010

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Exon-Targeted Array CGH for Identification of Clinically Relevant Small-Sized, Intragenic CNVs

Cancer genetics, 2016-05, Vol.209 (5), p.239-240

2016

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OC05.07: Pathologic copy number variations (CNVs) in fetuses with a normal karyotype: does the indication for testing matter?

Ultrasound in obstetrics & gynecology, 2015-09, Vol.46 (S1), p.11-11

2015

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Leukocyte migration in adipose tissue of mice null for ICAM-1 and Mac-1 adhesion receptors

Obesity (Silver Spring, Md.), 2004-06, Vol.12 (6), p.936-940

2004

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34 - Exon-Targeted Array CGH for Identification of Clinically Relevant Small-Sized, Intragenic CNVs

Cancer genetics, 2016-05, Vol.209 (5), p.239-240

2016

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Adult-onset combined methylmalonic aciduria and homocystinuria (cblC)

Neurology, 2001-04, Vol.56 (8), p.1113-1113

2001

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Severe inflammatory defect and reduced viability in CD18 and E-selectin double-mutant mice

The Journal of clinical investigation, 2000-12, Vol.106 (12), p.1457-1466

2000

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A search for the primary abnormality in adult-onset type II citrullinemia

American journal of human genetics, 1993-11, Vol.53 (5), p.1024-1030

1993

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A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11–q13) and refined localization of the SNRPN gene

Genomics (San Diego, Calif.), 1993-12, Vol.18 (3), p.546-552

1993

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Type Ib glycogen storage disease is caused by a defect in the glucose-6-phosphate translocase of the microsomal glucose-6-phosphatase system

The Journal of biological chemistry, 1980-09, Vol.255 (18), p.8381-8384

1980

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The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus

American journal of human genetics, 1993-08, Vol.53 (2), p.391-400

1993

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Additional polymorphism for D7S8 linked to cystic fibrosis including detection by DNA amplification

Nucleic acids research, 1989-02, Vol.17 (4), p.1784-1784

1989

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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.297-303

1990

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Molecular structure of the human argininosuccinate synthetase gene: occurrence of alternative mRNA splicing

Molecular and Cellular Biology, 1984-10, Vol.4 (10), p.1978-1984

1984

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Deletion and linkage mapping of eight markers from the proximal short arm of chromosome 6

Genomics (San Diego, Calif.), 1990-02, Vol.6 (2), p.352-357

1990

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Cloning of cDNA for argininosuccinate synthetase mRNA and study of enzyme overproduction in a human cell line

The Journal of biological chemistry, 1981-11, Vol.256 (22), p.11826-11831

1981

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An E. coli β-galactosidase cassette suitable for study of eukaryotic expression

Nucleic acids research, 1986-09, Vol.14 (17), p.7130-7130

1986

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A highly polymorphic locus in 5p15.2-5p15.3 (213-274EC) revealed an anonymous single copy DNA fragment

Nucleic acids research, 1987-02, Vol.15 (3), p.1345-1345

1987

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A human single copy DNA probe (ZB6-1) detects multiple polymorphisms on 6q

Nucleic acids research, 1988-02, Vol.16 (4), p.1650-1650

1988

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Assignment of autosomal dominant spinocerebellar ataxia centromeric to HLA using multilocus linkage analysis

Human immunology, 1988, Vol.23 (2), p.161-161

1988

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Exclusion of close linkage between the loci for cystic fibrosis and neuropeptide Y on human chromosome 7

Cytogenetic and genome research, 1987-01, Vol.44 (2-3), p.175-176

1987

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Retrovirus-mediated gene transfer of argininosuccinate synthetase into cultured rodent cells and human citrullinemic fibroblasts

Cold Spring Harbor Symposia on Quantitative Biology, 1986, Vol.51 Pt 2, p.1027-1032

1986

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Stimulation of protein synthesis by hemin in extracts of Friend erythroleukemia cells

The Journal of biological chemistry, 1978-10, Vol.253 (20), p.7124-7126

1978

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[30] Mammalian release factor; in Vitro Assay and Purification

Methods in Enzymology, 1974, Vol.30, p.293-303

1974

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Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data

22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH

Exon-Targeted Array CGH for Identification of Clinically Relevant Small-Sized, Intragenic CNVs

OC05.07: Pathologic copy number variations (CNVs) in fetuses with a normal karyotype: does the indication for testing matter?

Leukocyte migration in adipose tissue of mice null for ICAM-1 and Mac-1 adhesion receptors

34 - Exon-Targeted Array CGH for Identification of Clinically Relevant Small-Sized, Intragenic CNVs

Adult-onset combined methylmalonic aciduria and homocystinuria (cblC)

Severe inflammatory defect and reduced viability in CD18 and E-selectin double-mutant mice

A search for the primary abnormality in adult-onset type II citrullinemia

A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11–q13) and refined localization of the SNRPN gene

Type Ib glycogen storage disease is caused by a defect in the glucose-6-phosphate translocase of the microsomal glucose-6-phosphatase system

The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus

Additional polymorphism for D7S8 linked to cystic fibrosis including detection by DNA amplification

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

Molecular structure of the human argininosuccinate synthetase gene: occurrence of alternative mRNA splicing

Deletion and linkage mapping of eight markers from the proximal short arm of chromosome 6

Cloning of cDNA for argininosuccinate synthetase mRNA and study of enzyme overproduction in a human cell line

An E. coli β-galactosidase cassette suitable for study of eukaryotic expression

A highly polymorphic locus in 5p15.2-5p15.3 (213-274EC) revealed an anonymous single copy DNA fragment

A human single copy DNA probe (ZB6-1) detects multiple polymorphisms on 6q

Assignment of autosomal dominant spinocerebellar ataxia centromeric to HLA using multilocus linkage analysis

Exclusion of close linkage between the loci for cystic fibrosis and neuropeptide Y on human chromosome 7

Retrovirus-mediated gene transfer of argininosuccinate synthetase into cultured rodent cells and human citrullinemic fibroblasts

Stimulation of protein synthesis by hemin in extracts of Friend erythroleukemia cells

[30] Mammalian release factor; in Vitro Assay and Purification

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