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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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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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Characterization of a familial balanced rec(13) in a child with mild MR and his half‐sibling with two structurally rearranged chromosomes 13

American journal of medical genetics. Part A, 2005-08, Vol.137A (2), p.217-221

2005

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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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Inherited WT1 mutation in Denys-Drash syndrome

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

1992

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Maculopathy in spinocerebellar ataxia type 7

Neurology, 1999-07, Vol.53 (1), p.244-244

1999

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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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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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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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Preparation of glycopeptides and oligosaccharides from thyroxine-binding globulin

The Journal of biological chemistry, 1978-10, Vol.253 (19), p.6761-6767

1978

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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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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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Pendular nystagmus in patients with peroxisomal assembly disorder

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

1998

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Carbohydrate structures of thyroxine-binding globulin and their effects on hepatocyte membrane binding

The Journal of biological chemistry, 1978-10, Vol.253 (19), p.6768-6773

1978

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Comparison of theory and experiment for solute transport in highly heterogeneous porous medium

Advances in water resources, 2007-11, Vol.30 (11), p.2235-2261

2007

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

Recurrent immune cytopenias in two patients with DiGeorge/velocardiofacial syndrome

Characterization of a familial balanced rec(13) in a child with mild MR and his half‐sibling with two structurally rearranged chromosomes 13

The need for anonymous genetic counseling and testing

Inherited WT1 mutation in Denys-Drash syndrome

Maculopathy in spinocerebellar ataxia type 7

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

Fumarase deficiency: a new cause of mitochondrial encephalomyopathy

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

Preparation of glycopeptides and oligosaccharides from thyroxine-binding globulin

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

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

Pendular nystagmus in patients with peroxisomal assembly disorder

Carbohydrate structures of thyroxine-binding globulin and their effects on hepatocyte membrane binding

Comparison of theory and experiment for solute transport in highly heterogeneous porous medium

Psychological response to amniocentesis: II. Effects of coping style

Distal deletion of the short arm of chromosome 6

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

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

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

Enamel defects: A developmental marker for hemifacial microsomia

Maternal uniparental disomy chromosome 14: Case report and literature review

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

Achalasia as the Harbinger of a Novel Mitochondrial Disorder in Childhood

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

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