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Diagnostic single strand conformational polymorphism, (SSCP) : a simplified non-radioisotopic method as applied to a tay-sachs B1 variant

Nucleic acids research, 1991-01, Vol.19 (2), p.405-406

1991

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Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis

Journal of medical genetics, 1996-12, Vol.33 (12), p.1011-1014

1996

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Some caveats in PCR-based prenatal diagnosis on direct amniotic fluid versus cultured amniocytes

Prenatal diagnosis, 1999-02, Vol.19 (2), p.113-117

1999

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Polyglutamine-containing proteins in schizophrenia: an effect of lymphoblastoid cells?

Molecular psychiatry, 2000-05, Vol.5 (3), p.234-236

2000

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Characterization and Polymerase Chain Reaction (PCR) Detection of an Alu Deletion Polymorphism in Total Linkage Disequilibrium with Myotonic Dystrophy

Genomics (San Diego, Calif.), 1993-02, Vol.15 (2), p.446-448

1993

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Correlation between decreased myocardial glucose phosphorylation and DNA mutation size in myotonic dystrophy

Circulation (New York, N.Y.), 1997-03, Vol.95 (6), p.1664-1665

1997

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Molecular characterization of the murine argininosuccinate synthetase locus

Gene, 1991-03, Vol.99 (2), p.181-189

1991

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Nucleotide sequence of the cDNA encoding the rat argininosuccinate synthetase

Nucleic acids research, 1988-10, Vol.16 (19), p.9352-9352

1988

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Interstitial deletion of chromosome 18[del(18)(q11.2q12.2 or q12.2q21.1]

American journal of medical genetics, 1991-10, Vol.41 (1), p.15-17

1991

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Simple, rapid detection of PCR heteroduplexes in DNA mutations and polymorphisms

Clinical chemistry (Baltimore, Md.), 1991-12, Vol.37 (12), p.2142-2142

1991

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Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7

Neurogenetics, 1997-11, Vol.1 (2), p.141-147

1997

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Analysis of Trinucleotide Repeats in Myotonic Dystrophy

Current Protocols in Human Genetics, 2001-05, Vol.1 (1), p.9.6.1-9.6.13

2001

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Deletion and Uniparental Disomy Involving the Same Maternal Chromosome 15

The New England journal of medicine, 1994-02, Vol.330 (8), p.572-573

1994

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Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene

Nature genetics, 1993-07, Vol.4 (3), p.233-238

1993

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Clinical application of the molecular diagnosis of spinal muscular atrophy: Deletions of neuronal apoptosis inhibitor protein and survival motor neuron genes

American journal of medical genetics, 1997-03, Vol.69 (2), p.159-165

1997

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Delivery of molecular genetic services within a health care system : time analysis of the clinical workload

American journal of human genetics, 1995-03, Vol.56 (3), p.760-768

1995

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A three allele insertion polymorphism is identified by the human chromosome 19q13.3 probe pKBE0.8 (D19S119)

Nucleic acids research, 1991-03, Vol.19 (5), p.1157-1157

1991

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Development and Evaluation of a Decision Aid About Prenatal Testing for Women of Advanced Maternal Age

Journal of genetic counseling, 1999-08, Vol.8 (4), p.217-233

1999

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Cystic fibrosis carrier screening in a high-risk population. Participation based on a traditional recruitment process

Archives of pediatrics & adolescent medicine, 1994-06, Vol.148 (6), p.632

1994

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Assignment of the structural gene for argininosuccinate synthetase to proximal mouse chromosome 2

Genomics (San Diego, Calif.), 1990-03, Vol.6 (3), p.545-547

1990

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Delivery of molecular genetic services within a health care system: time analysis of the clinical workload. The Molecular Genetic Study Group

American journal of human genetics, 1995-03, Vol.56 (3), p.760-768

1995

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Convergent Myotonie Dystrophy (DM) Haplotypes: Potential Inconsistencies in Human Disease Gene Localization

European journal of human genetics : EJHG, 1995, Vol.3 (3), p.195-202

1995

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Direct detection of expanded trinucleotide repeats using PCR and DNA hybridization techniques

American journal of medical genetics, 1996-02, Vol.67 (1), p.85-91

1996

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A three allele insertion polymorphism is identified by the human chromosome 19q 13.3 probe pKBE0.8 (D19S119)

Nucleic acids research, 1991, Vol.19 (5)

1991

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Deletion and uniparental disomy involving the same maternal chromosome 15

The New England journal of medicine, 1994, Vol.330 (8), p.572-573

1994

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Diagnostic single strand conformational polymorphism, (SSCP) : a simplified non-radioisotopic method as applied to a tay-sachs B1 variant

Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis

Some caveats in PCR-based prenatal diagnosis on direct amniotic fluid versus cultured amniocytes

Polyglutamine-containing proteins in schizophrenia: an effect of lymphoblastoid cells?

Characterization and Polymerase Chain Reaction (PCR) Detection of an Alu Deletion Polymorphism in Total Linkage Disequilibrium with Myotonic Dystrophy

Correlation between decreased myocardial glucose phosphorylation and DNA mutation size in myotonic dystrophy

Molecular characterization of the murine argininosuccinate synthetase locus

Nucleotide sequence of the cDNA encoding the rat argininosuccinate synthetase

Interstitial deletion of chromosome 18[del(18)(q11.2q12.2 or q12.2q21.1]

Simple, rapid detection of PCR heteroduplexes in DNA mutations and polymorphisms

Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7

Analysis of Trinucleotide Repeats in Myotonic Dystrophy

Deletion and Uniparental Disomy Involving the Same Maternal Chromosome 15

Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene

Clinical application of the molecular diagnosis of spinal muscular atrophy: Deletions of neuronal apoptosis inhibitor protein and survival motor neuron genes

Delivery of molecular genetic services within a health care system : time analysis of the clinical workload

A three allele insertion polymorphism is identified by the human chromosome 19q13.3 probe pKBE0.8 (D19S119)

Development and Evaluation of a Decision Aid About Prenatal Testing for Women of Advanced Maternal Age

Cystic fibrosis carrier screening in a high-risk population. Participation based on a traditional recruitment process

Assignment of the structural gene for argininosuccinate synthetase to proximal mouse chromosome 2

Delivery of molecular genetic services within a health care system: time analysis of the clinical workload. The Molecular Genetic Study Group

Convergent Myotonie Dystrophy (DM) Haplotypes: Potential Inconsistencies in Human Disease Gene Localization

Direct detection of expanded trinucleotide repeats using PCR and DNA hybridization techniques

A three allele insertion polymorphism is identified by the human chromosome 19q 13.3 probe pKBE0.8 (D19S119)

Deletion and uniparental disomy involving the same maternal chromosome 15

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