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Double superior vena cava and left brachiocephalic vein agenesis: a rare systemic vein anomaly and potential source of cardiac implantable electronic device and central venous catheter placement complications

Folia morphologica, 2022, Vol.81 (4), p.1066-1071

2022

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Genetic and Physical Mapping of the Locus for Autosomal Dominant Renal Fanconi Syndrome, on Chromosome 15q15.3

American journal of human genetics, 2001-01, Vol.68 (1), p.264-268

2001

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Pedigree disequilibrium test (PDT) replicates association and linkage between DRD4 and ADHD in multigenerational and extended pedigrees from a genetic isolate

Molecular psychiatry, 2004-03, Vol.9 (3), p.252-259

2004

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Molecular Basis of Phenotypic Heterogeneity in Phenylketonuria

The New England journal of medicine, 1991-05, Vol.324 (18), p.1232-1238

1991

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The primary structure of human chromogranin A and pancreastatin

The Journal of biological chemistry, 1987-12, Vol.262 (35), p.17026-17030

1987

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An Alternatively Spliced Form of the Human Lysosome-Associated Membrane Protein-2 Gene Is Expressed in a Tissue-Specific Manner

Biochemical and biophysical research communications, 1995-10, Vol.215 (2), p.757-767

1995

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Human Phenylalanine Hydroxylase Gene Expression in Kidney and Other Nonhepatic Tissues

Molecular genetics and metabolism, 1999-08, Vol.67 (4), p.308-316

1999

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Expression patterns of murine lysosome-associated membrane protein 2 (Lamp-2) transcripts during morphogenesis

Differentiation (London), 1999-07, Vol.65 (1), p.43-58

1999

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Double superior vena cava and left brachiocephalic vein agenesis: a rare systemic vein anomaly and potential source of CIED and CVC placement complications

Folia morphologica, 2021-10

2021

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The primary structure of bovine chromogranin A: a representative of a class of acidic secretory proteins common to a variety of peptidergic cells

The EMBO journal, 1986-07, Vol.5 (7), p.1495-1502

1986

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Structure, Expression, and Mutation of the Hypoxanthine Phosphoribosyltransferase Gene

Proceedings of the National Academy of Sciences - PNAS, 1984-04, Vol.81 (7), p.2147-2151

1984

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Alternative splicing in the fragile X gene FMR1

Human molecular genetics, 1993-04, Vol.2 (4), p.399-404

1993

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The primary structure of human secretogranin I (chromogranin B): comparison with chromogranin A reveals homologous terminal domains and a large intervening variable region

The EMBO journal, 1987-05, Vol.6 (5), p.1203-1211

1987

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The phenylketonuria locus : current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations

Human genetics, 1991-08, Vol.87 (4), p.377-388

1991

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Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene

American journal of human genetics, 1992-09, Vol.51 (3), p.627-636

1992

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Structural characterization of the 5' regions of the human phenylalanine hydroxylase gene

Biochemistry (Easton), 1992-09, Vol.31 (35), p.8363-8368

1992

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Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria

European journal of pediatrics, 1996-07, Vol.155 Suppl 1 (S1), p.S11-S15

1996

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PAHdb 2003: What a locus-specific knowledgebase can do

Human mutation, 2003-04, Vol.21 (4), p.333-344

2003

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Construction of a transcription map of a 300 kb region around the human G6PD locus by direct cDNA selection

Human molecular genetics, 1993-11, Vol.2 (11), p.1865-1869

1993

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Hypoxanthine-guanine phosphoribosyltransferase genes of mouse and Chinese hamster: construction and sequence analysis of cDNA recombinants

Nucleic acids research, 1982-11, Vol.10 (21), p.6763-6775

1982

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DNA sequence polymorphisms in exonic and intronic regions of the human phenylalanine hydroxylase gene aid in the identification of alleles

Human genetics, 1994-09, Vol.94 (3), p.307-310

1994

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TurboPrep II: An Inexpensive, High-Throughput Plasmid Template Preparation Protocol

BioTechniques, 1998-02, Vol.24 (2), p.286-293

1998

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Alternative splicing in the fragile X gene FMR1

Human molecular genetics, 1993-08, Vol.2 (8), p.1348-1348

1993

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Point mutation analysis of the FMR-1 gene in autism

Molecular psychiatry, 1996-07, Vol.1 (3), p.227

1996

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Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene

Biochemistry (Easton), 1988-04, Vol.27 (8), p.2881-2885

1988

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Double superior vena cava and left brachiocephalic vein agenesis: a rare systemic vein anomaly and potential source of cardiac implantable electronic device and central venous catheter placement complications

Genetic and Physical Mapping of the Locus for Autosomal Dominant Renal Fanconi Syndrome, on Chromosome 15q15.3

Pedigree disequilibrium test (PDT) replicates association and linkage between DRD4 and ADHD in multigenerational and extended pedigrees from a genetic isolate

Molecular Basis of Phenotypic Heterogeneity in Phenylketonuria

The primary structure of human chromogranin A and pancreastatin

An Alternatively Spliced Form of the Human Lysosome-Associated Membrane Protein-2 Gene Is Expressed in a Tissue-Specific Manner

Human Phenylalanine Hydroxylase Gene Expression in Kidney and Other Nonhepatic Tissues

Expression patterns of murine lysosome-associated membrane protein 2 (Lamp-2) transcripts during morphogenesis

Double superior vena cava and left brachiocephalic vein agenesis: a rare systemic vein anomaly and potential source of CIED and CVC placement complications

The primary structure of bovine chromogranin A: a representative of a class of acidic secretory proteins common to a variety of peptidergic cells

Structure, Expression, and Mutation of the Hypoxanthine Phosphoribosyltransferase Gene

Alternative splicing in the fragile X gene FMR1

The primary structure of human secretogranin I (chromogranin B): comparison with chromogranin A reveals homologous terminal domains and a large intervening variable region

The phenylketonuria locus : current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations

Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene

Structural characterization of the 5' regions of the human phenylalanine hydroxylase gene

Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria

PAHdb 2003: What a locus-specific knowledgebase can do

Construction of a transcription map of a 300 kb region around the human G6PD locus by direct cDNA selection

Hypoxanthine-guanine phosphoribosyltransferase genes of mouse and Chinese hamster: construction and sequence analysis of cDNA recombinants

DNA sequence polymorphisms in exonic and intronic regions of the human phenylalanine hydroxylase gene aid in the identification of alleles

TurboPrep II: An Inexpensive, High-Throughput Plasmid Template Preparation Protocol

Alternative splicing in the fragile X gene FMR1

Point mutation analysis of the FMR-1 gene in autism

Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene

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