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Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy

Science (American Association for the Advancement of Science), 1988-12, Vol.242 (4884), p.1427-1430

1988

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RAI1 variations in Smith–Magenis syndrome patients without 17p11.2 deletions

Journal of medical genetics, 2005-11, Vol.42 (11), p.820-828

2005

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Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene

Human mutation, 1999, Vol.13 (6), p.417-430

1999

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The Impact of Gaucher Disease and Its Treatment on Quality of Life

Quality of life research, 1998-08, Vol.7 (6), p.521-534

1998

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Structural analysis of normal and mutant insulin receptors in fibroblasts cultured from families with leprechaunism

American journal of human genetics, 1987-09, Vol.41 (3), p.402-417

1987

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Insulin-specific receptor-mediated slowing of beat rate in embryonic heart cells

American Journal of Physiology: Cell Physiology, 1984-03, Vol.246 (3), p.C347-C350

1984

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Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency

Biochemical and biophysical research communications, 1990-08, Vol.171 (1), p.498-505

1990

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Reduced mRNA and a nonsense mutation in the insulin-receptor gene produce heritable severe insulin resistance

American journal of human genetics, 1992-05, Vol.50 (5), p.998-1007

1992

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Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome

American journal of medical genetics, 1988-03, Vol.29 (3), p.557-564

1988

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Structural analysis and subunit interaction of insulin receptor from membranes of cultured embryonic chick heart cells

Endocrinology (Philadelphia), 1984-11, Vol.115 (5), p.1828-1837

1984

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he impact of Gaucher disease and its treatment on quality of life

Quality of life research, 1998-08, Vol.7 (6), p.521-534

1998

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A [ 3H]lysine-containing synthetic peptide substrate for human protocollagen lysyl hydroxylase

Biochimica et biophysica acta, 1985-06, Vol.840 (2), p.143-152

1985

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Clinical and biochemical analysis of two families with type I and type II mannosidosis

American journal of medical genetics, 1995-01, Vol.55 (1), p.21-26

1995

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Position statement on interphase in situ hybridization prenatal diagnosis

American journal of medical genetics, 1993-06, Vol.46 (4), p.478-478

1993

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Application of benefit-to-cost analysis to an X-linked recessive cardiac and humeroperoneal neuromuscular disease

American journal of medical genetics, 1980, Vol.6 (4), p.315-329

1980

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Cystathionine β-synthase deficiency in Georgia (USA): Correlation of clinical and biochemical phenotype with genotype

Human mutation, 2003-12, Vol.22 (6), p.434-441

2003

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Risk factors for premature ovarian failure in females with galactosemia

The Journal of pediatrics, 2000-12, Vol.137 (6), p.833-841

2000

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Gender verification in the Olympics

JAMA : the journal of the American Medical Association, 2000-09, Vol.284 (12), p.1568

2000

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The Duarte allele impairs biostability of galactose-1-phosphate uridyltransferase in human lymphoblasts

Human mutation, 1998, Vol.11 (1), p.28-38

1998

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Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population

Pediatrics (Evanston), 1996-04, Vol.97 (4), p.512

1996

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Gaucher disease: In vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes

American journal of medical genetics. Part A, 2003-01, Vol.116A (1), p.52-56

2003

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Impact of a Camp Experience on Phenylalanine Levels, Knowledge, Attitudes, and Health Beliefs Relevant to Nutrition Management of Phenylketonuria in Adolescent Girls

Journal of the American Dietetic Association, 2000-07, Vol.100 (7), p.797-803

2000

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The role of thiamin in Maple syrup urine disease

Annals of the New York Academy of Sciences, 1982-01, Vol.378 (1), p.404-421

1982

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Influence of Age on Insulin Stimulation of Amino Acid Uptake in Rat Diaphragm

The Journal of biological chemistry, 1971-11, Vol.246 (21), p.6452-6459

1971

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Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy

RAI1 variations in Smith–Magenis syndrome patients without 17p11.2 deletions

Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene

The Impact of Gaucher Disease and Its Treatment on Quality of Life

Structural analysis of normal and mutant insulin receptors in fibroblasts cultured from families with leprechaunism

Insulin-specific receptor-mediated slowing of beat rate in embryonic heart cells

Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency

Reduced mRNA and a nonsense mutation in the insulin-receptor gene produce heritable severe insulin resistance

Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome

Structural analysis and subunit interaction of insulin receptor from membranes of cultured embryonic chick heart cells

he impact of Gaucher disease and its treatment on quality of life

A [ 3H]lysine-containing synthetic peptide substrate for human protocollagen lysyl hydroxylase

Clinical and biochemical analysis of two families with type I and type II mannosidosis

Position statement on interphase in situ hybridization prenatal diagnosis

Application of benefit-to-cost analysis to an X-linked recessive cardiac and humeroperoneal neuromuscular disease

Cystathionine β-synthase deficiency in Georgia (USA): Correlation of clinical and biochemical phenotype with genotype

Risk factors for premature ovarian failure in females with galactosemia

Gender verification in the Olympics

The Duarte allele impairs biostability of galactose-1-phosphate uridyltransferase in human lymphoblasts

Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population

Gaucher disease: In vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes

Impact of a Camp Experience on Phenylalanine Levels, Knowledge, Attitudes, and Health Beliefs Relevant to Nutrition Management of Phenylketonuria in Adolescent Girls

The role of thiamin in Maple syrup urine disease

Influence of Age on Insulin Stimulation of Amino Acid Uptake in Rat Diaphragm

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