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Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition

Journal of medical genetics, 2006-05, Vol.43 (5), p.385-393

2006

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The T-786→C Mutation in Endothelial Nitric Oxide Synthase Is Associated With Hypertension

Hypertension (Dallas, Tex. 1979), 2002-04, Vol.39 (4), p.919-922

2002

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No Evidence of False Reassurance among Women with an Inconclusive BRCA1/2 Genetic Test Result

Cancer epidemiology, biomarkers & prevention, 2005-12, Vol.14 (12), p.2862-2867

2005

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Effect of heterozygosity for the methionine synthase 2756 A→G mutation on the risk for recurrent cardiovascular events

The American journal of cardiology, 2000-11, Vol.86 (10), p.1144-1146

2000

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Identification of Archaeological Animal Bone by PCR/DNA Analysis

Journal of archaeological science, 2002-01, Vol.29 (1), p.77-84

2002

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Disseminated bacille Calmette-Guérin infection in an infant with a novel deletion in the interferon-gamma receptor gene

The international journal of tuberculosis and lung disease, 2000-08, Vol.4 (8), p.791

2000

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Cost analysis of DNA-based testing in a large Canadian family with multiple endocrine neoplasia type 2

Clinical genetics, 2004-10, Vol.66 (4), p.349-352

2004

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Genetic technologies, health care policy and the patent bargain

Clinical genetics, 2003-01, Vol.63 (1), p.15-18

2003

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Evaluation of the Quantase™ neonatal immunoreactive trypsinogen (IRT) screening assay for cystic fibrosis

Clinical chemistry and laboratory medicine, 2005-01, Vol.43 (5), p.570-572

2005

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Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene

American journal of human genetics, 1990-08, Vol.47 (2), p.202-217

1990

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Further evidence for genetic heterogeneity in familial hemophagocytic lymphohistiocytosis (FHLH)

Pediatric research, 2000-08, Vol.48 (2), p.227-232

2000

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Immunological and DNA Analysis of Blood Residues from a Surgeon's Kit used in the American Civil War

Journal of archaeological science, 1998-06, Vol.25 (6), p.553-557

1998

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Carrier detection and prenatal diagnosis of Pelizaeus-Merzbacher disease using a combination of anonymous DNA polymorphisms and the proteolipid protein (PLP) gene cDNA

American journal of medical genetics, 1991-03, Vol.38 (4), p.616-621

1991

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An A to T transversion at position −5 of the Factor IX promoter results in hemophilia B

Genomics (San Diego, Calif.), 1992, Vol.12 (1), p.161-163

1992

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Maternal uniparental heterodisomy for chromosome 16: Case report

American journal of medical genetics, 1997-06, Vol.70 (4), p.387-390

1997

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Cosegregation of von Willebrand factor gene polymorphisms and possible germinal mosaicism in type IIB von Willebrand disease

Blood, 1991-04, Vol.77 (7), p.1476-1483

1991

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Cosegregation of von Willebrand Factor Gene Polymorphisms and Possible Germinal Mosaicism in Type IIB von Willebrand Disease

Blood, 1991-04, Vol.77 (7), p.1476-1483

1991

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Correction of the published sequence for the human proteolipid protein gene

Human genetics, 1991-04, Vol.86 (6), p.617-618

1991

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The synthesis and composition of georgeite and its reactions to form other secondary copper(II) carbonates

Mineralogical magazine, 1991-06, Vol.55 (379), p.163-166

1991

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Gonadal mosaicism in a family with adrenoleukodystrophy: Molecular diagnosis of carrier status among daughters of a gonadal mosaic when direct detection of the mutation is not possible

Journal of inherited metabolic disease, 1992-01, Vol.15 (1), p.68-74

1992

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Variation of the Non-Factor VIII Sequences Detected by a Probe From Intron 22 of the Factor VIII Gene

Blood, 1990-01, Vol.75 (1), p.139-143

1990

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A BstXI polymorphism detected by the factor VIII genomic probe p.482.6 (F8C)

Nucleic acids research, 1989-08, Vol.17 (15), p.6426-6426

1989

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Variation of the non-factor VIII sequences detected by a probe from intron 22 of the factor VIII gene

Blood, 1990-01, Vol.75 (1), p.139-143

1990

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Guano minerals from Murra-el-elevyn Cave Western Australia

Mineralogical magazine, 1973-12, Vol.39 (304), p.467-469

Bridge, P. J.

1973

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A second occurrence of perite

Mineralogical magazine, 1976-03, Vol.40 (313), p.537-537

Bridge, P.J.

1976

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Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition

The T-786→C Mutation in Endothelial Nitric Oxide Synthase Is Associated With Hypertension

No Evidence of False Reassurance among Women with an Inconclusive BRCA1/2 Genetic Test Result

Effect of heterozygosity for the methionine synthase 2756 A→G mutation on the risk for recurrent cardiovascular events

Identification of Archaeological Animal Bone by PCR/DNA Analysis

Disseminated bacille Calmette-Guérin infection in an infant with a novel deletion in the interferon-gamma receptor gene

Cost analysis of DNA-based testing in a large Canadian family with multiple endocrine neoplasia type 2

Genetic technologies, health care policy and the patent bargain

Evaluation of the Quantase™ neonatal immunoreactive trypsinogen (IRT) screening assay for cystic fibrosis

Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene

Further evidence for genetic heterogeneity in familial hemophagocytic lymphohistiocytosis (FHLH)

Immunological and DNA Analysis of Blood Residues from a Surgeon's Kit used in the American Civil War

Carrier detection and prenatal diagnosis of Pelizaeus-Merzbacher disease using a combination of anonymous DNA polymorphisms and the proteolipid protein (PLP) gene cDNA

An A to T transversion at position −5 of the Factor IX promoter results in hemophilia B

Maternal uniparental heterodisomy for chromosome 16: Case report

Cosegregation of von Willebrand factor gene polymorphisms and possible germinal mosaicism in type IIB von Willebrand disease

Cosegregation of von Willebrand Factor Gene Polymorphisms and Possible Germinal Mosaicism in Type IIB von Willebrand Disease

Correction of the published sequence for the human proteolipid protein gene

The synthesis and composition of georgeite and its reactions to form other secondary copper(II) carbonates

Gonadal mosaicism in a family with adrenoleukodystrophy: Molecular diagnosis of carrier status among daughters of a gonadal mosaic when direct detection of the mutation is not possible

Variation of the Non-Factor VIII Sequences Detected by a Probe From Intron 22 of the Factor VIII Gene

A BstXI polymorphism detected by the factor VIII genomic probe p.482.6 (F8C)

Variation of the non-factor VIII sequences detected by a probe from intron 22 of the factor VIII gene

Guano minerals from Murra-el-elevyn Cave Western Australia

A second occurrence of perite

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