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The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors

Molecular genetics and metabolism, 2016-09, Vol.119 (1-2), p.50-56

2016

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Maternal uniparental disomy chromosome 14: Case report and literature review

Pediatric neurology, 2005-02, Vol.32 (2), p.116-120

2005

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A 13-year-old boy with cognitive impairment, retinoblastoma, and Wilson disease

Neurology, 2001-07, Vol.57 (1), p.141-143

2001

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Achalasia as the Harbinger of a Novel Mitochondrial Disorder in Childhood

Journal of pediatric gastroenterology and nutrition, 2005-04, Vol.40 (4), p.512-517

2005

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Fumarase deficiency: a new cause of mitochondrial encephalomyopathy

The New England journal of medicine, 1986-08, Vol.315 (8), p.469-475

1986

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Characterization of Neo-Centromeres in Marker Chromosomes Lacking Detectable Alpha-satellite DNA

Human molecular genetics, 1997-08, Vol.6 (8), p.1195-1204

1997

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Ethylmalonic/adipic aciduria : effects of oral medium-chain triglycerides, carnitine, and glycine on urinary excretion of organic acids, acylcarnitines, and acylglycines

Pediatric research, 1991-09, Vol.30 (3), p.216-221

1991

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Recurrent immune cytopenias in two patients with DiGeorge/velocardiofacial syndrome

The Journal of pediatrics, 1997-09, Vol.131 (3), p.484-486

1997

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Inherited WT1 mutation in Denys-Drash syndrome

Cancer research (Chicago, Ill.), 1992-11, Vol.52 (21), p.6125-6128

1992

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Pendular nystagmus in patients with peroxisomal assembly disorder

Archives of neurology (Chicago), 1998-04, Vol.55 (4), p.554

1998

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Fumarase deficiency

The New England journal of medicine, 1987-02, Vol.316 (6), p.345-346

Snodgrass, P J

1987

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The stable isotope dilution method for measurement of methylmalonic acid: a highly accurate approach to the prenatal diagnosis of methylmalonic acidemia

Pediatric research, 1982-01, Vol.16 (9), p.740-745

1982

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The need for anonymous genetic counseling and testing

American journal of human genetics, 1996-02, Vol.58 (2), p.393-397

1996

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Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the αI(I) gene (COLIAI) of type I collagen in a parent

American journal of human genetics, 1990, Vol.46 (6), p.1034-1040

1990

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Reply to Clayton and Rothstein

American journal of human genetics, 1996-11, Vol.59 (5), p.1170-1170

1996

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The clinical introduction of genetic testing for Alzheimer disease. An ethical perspective

JAMA : the journal of the American Medical Association, 1997-03, Vol.277 (10), p.832

1997

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Molecular analysis of 46,XY females and regional assignment of a new Y-chromosome-specific probe

Human genetics, 1989-08, Vol.83 (1), p.88-92

1989

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Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene

American journal of medical genetics, 1996-03, Vol.62 (3), p.233-242

1996

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Sex chromosome markers: Characterization using fluorescence in situ hybridization and review of the literature

American journal of medical genetics, 1997-07, Vol.71 (1), p.1-7

1997

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Psychological response to amniocentesis: II. Effects of coping style

American journal of medical genetics, 1986-09, Vol.25 (1), p.143-148

1986

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Psychological response to amniocentesis: I. Mood state and adaptation to pregnancy

American journal of medical genetics, 1986-09, Vol.25 (1), p.131-142

1986

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Distal deletion of the short arm of chromosome 6

American journal of medical genetics, 1990-02, Vol.35 (2), p.261-265

1990

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Delineation of the Marfan phenotype associated with mutations in exons 23–32 of theFBN1 gene

American journal of medical genetics, 1996-03, Vol.62 (3), p.233-242

1996

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Enamel defects: A developmental marker for hemifacial microsomia

American journal of medical genetics, 1990-08, Vol.36 (4), p.444-448

1990

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SECTION 4 - Nature of Linkages between Protein Core and Oligosaccharides

The Glycoconjugates, 1977, p.69-85

1977

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The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors

Maternal uniparental disomy chromosome 14: Case report and literature review

A 13-year-old boy with cognitive impairment, retinoblastoma, and Wilson disease

Achalasia as the Harbinger of a Novel Mitochondrial Disorder in Childhood

Fumarase deficiency: a new cause of mitochondrial encephalomyopathy

Characterization of Neo-Centromeres in Marker Chromosomes Lacking Detectable Alpha-satellite DNA

Ethylmalonic/adipic aciduria : effects of oral medium-chain triglycerides, carnitine, and glycine on urinary excretion of organic acids, acylcarnitines, and acylglycines

Recurrent immune cytopenias in two patients with DiGeorge/velocardiofacial syndrome

Inherited WT1 mutation in Denys-Drash syndrome

Pendular nystagmus in patients with peroxisomal assembly disorder

Fumarase deficiency

The stable isotope dilution method for measurement of methylmalonic acid: a highly accurate approach to the prenatal diagnosis of methylmalonic acidemia

The need for anonymous genetic counseling and testing

Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the αI(I) gene (COLIAI) of type I collagen in a parent

Reply to Clayton and Rothstein

The clinical introduction of genetic testing for Alzheimer disease. An ethical perspective

Molecular analysis of 46,XY females and regional assignment of a new Y-chromosome-specific probe

Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene

Sex chromosome markers: Characterization using fluorescence in situ hybridization and review of the literature

Psychological response to amniocentesis: II. Effects of coping style

Psychological response to amniocentesis: I. Mood state and adaptation to pregnancy

Distal deletion of the short arm of chromosome 6

Delineation of the Marfan phenotype associated with mutations in exons 23–32 of theFBN1 gene

Enamel defects: A developmental marker for hemifacial microsomia

SECTION 4 - Nature of Linkages between Protein Core and Oligosaccharides

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