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A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease

Molecular psychiatry, 2013-02, Vol.18 (2), p.141-153

2013

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Galectins. Structure and function of a large family of animal lectins

The Journal of biological chemistry, 1994-08, Vol.269 (33), p.20807-20810

1994

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Utilization of a cryptic noncanonical donor splice site in the KRT14 gene causes a mild form of epidermolysis bullosa simplex: KRT14 gene and EBS

British journal of dermatology (1951), 2006-07, Vol.155 (1), p.201-203

2006

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Complement component C7 deficiency in four Irish families: The characterisation of a large genomic deletion within the C7 gene

Molecular immunology, 2009-09, Vol.46 (14), p.2870-2870

2009

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Comparative analysis of copy number variation in primate genomes

Cytogenetic and genome research, 2008-01, Vol.123 (1-4), p.288-296

2008

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Utilization of a cryptic noncanonical donor splice site in the KRT14 gene causes a mild form of epidermolysis bullosa simplex

British journal of dermatology (1951), 2006-07, Vol.155 (1), p.201-203

2006

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Evidence for Export of a Muscle Lectin from Cytosol to Extracellular Matrix and for a Novel Secretory Mechanism

The Journal of cell biology, 1990-05, Vol.110 (5), p.1681-1691

1990

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Chromosomal speciation of humans and chimpanzees revisited: studies of DNA divergence within inverted regions

Cytogenetic and genome research, 2007-01, Vol.116 (1-2), p.53-60

2007

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Rat olfactory neurons can utilize the endogenous lectin, L-14, in a novel adhesion mechanism

Development (Cambridge), 1994-06, Vol.120 (6), p.1373-1384

1994

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Flow of cerebral interstitial fluid as indicated by the removal of extracellular markers from rat caudate nucleus

Experimental eye research, 1977, Vol.25, p.461-473

1977

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Gross Deletions and Translocations in Human Genetic Disease

Genome and Disease, 2006, Vol.1, p.17-34

2006

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Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition

Nucleic acids research, 1994-09, Vol.22 (17), p.3511-3533

1994

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Haemophilia A: database of ncleotide substituttions, deletions, insertions and rearrangements of the factor VIII gene

Nucleic acids research, 1991-09, Vol.19 (18), p.4821-4833

1991

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Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms (Part 1 of 27)

Cytogenetic and genome research, 1991-01, Vol.58 (3-4), p.1190-1211

1991

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Diagnosis of human genetic disease using recombinant DNA : fourth edition

Human genetics, 1993-10, Vol.92 (3), p.211-236

1993

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Human Gene Mutation in Inherited Disease: Molecular Mechanisms and Clinical Consequences

Reference Module in Biomedical Research, 2014

2014

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Molecular analysis of the genotype-phenotype relationship in factor X deficiency

Human genetics, 2000-02, Vol.106 (2), p.249-257

2000

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Late-onset homozygous protein C deficiency

The Lancet (British edition), 1991-08, Vol.338 (8766), p.575-576

1991

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Diagnosis of genetic disease using recombinant DNA. Third edition

Human genetics, 1991-09, Vol.87 (5), p.519-560

1991

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HUMAN GENE CLONING AND DISEASE ANALYSIS

The Lancet (British edition), 1987, Vol.329 (8527), p.273-273

1987

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The Molecular Genetic Analysis of Hemophilia A: A Directed Search Strategy for the Detection of Point Mutations in the Human Factor VIII Gene

Blood, 1990-12, Vol.76 (11), p.2242-2248

1990

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The molecular genetics of familial venous thrombosis

Blood reviews, 1991, Vol.5 (1), p.55-70

Cooper, D.N.

1991

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Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition

Nucleic acids research, 1994-11, Vol.22 (22), p.4851-4868

1994

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Rapid detection of deletions in the Duchenne muscular dystrophy gene by PCR amplification of deletion-prone exon sequences

Human genetics, 1990-02, Vol.84 (3), p.228-232

1990

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Variation in the DNA methylation pattern of expressed and nonexpressed genes in chicken

DNA (New York, N.Y.), 1983, Vol.2 (2), p.131-140

1983

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A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease

Galectins. Structure and function of a large family of animal lectins

Utilization of a cryptic noncanonical donor splice site in the KRT14 gene causes a mild form of epidermolysis bullosa simplex: KRT14 gene and EBS

Complement component C7 deficiency in four Irish families: The characterisation of a large genomic deletion within the C7 gene

Comparative analysis of copy number variation in primate genomes

Utilization of a cryptic noncanonical donor splice site in the KRT14 gene causes a mild form of epidermolysis bullosa simplex

Evidence for Export of a Muscle Lectin from Cytosol to Extracellular Matrix and for a Novel Secretory Mechanism

Chromosomal speciation of humans and chimpanzees revisited: studies of DNA divergence within inverted regions

Rat olfactory neurons can utilize the endogenous lectin, L-14, in a novel adhesion mechanism

Flow of cerebral interstitial fluid as indicated by the removal of extracellular markers from rat caudate nucleus

Gross Deletions and Translocations in Human Genetic Disease

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition

Haemophilia A: database of ncleotide substituttions, deletions, insertions and rearrangements of the factor VIII gene

Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms (Part 1 of 27)

Diagnosis of human genetic disease using recombinant DNA : fourth edition

Human Gene Mutation in Inherited Disease: Molecular Mechanisms and Clinical Consequences

Molecular analysis of the genotype-phenotype relationship in factor X deficiency

Late-onset homozygous protein C deficiency

Diagnosis of genetic disease using recombinant DNA. Third edition

HUMAN GENE CLONING AND DISEASE ANALYSIS

The Molecular Genetic Analysis of Hemophilia A: A Directed Search Strategy for the Detection of Point Mutations in the Human Factor VIII Gene

The molecular genetics of familial venous thrombosis

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition

Rapid detection of deletions in the Duchenne muscular dystrophy gene by PCR amplification of deletion-prone exon sequences

Variation in the DNA methylation pattern of expressed and nonexpressed genes in chicken

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