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Disruption of contactin 4 in three subjects with autism spectrum disorder

Journal of medical genetics, 2009-03, Vol.46 (3), p.176-182

2009

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Genetic variation in brain‐derived neurotrophic factor and human fear conditioning

Genes, brain and behavior, 2009-02, Vol.8 (1), p.80-85

2009

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Autism and environmental genomics

Neurotoxicology (Park Forest South), 2006-09, Vol.27 (5), p.671-684

2006

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An improved method for generating BAC DNA suitable for FISH

Cytogenetic and genome research, 2008-01, Vol.121 (1), p.7-9

2008

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Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

Journal of medical genetics, 1997-10, Vol.34 (10), p.798-804

1997

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Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2

Clinical genetics, 2009-03, Vol.75 (3), p.259-264

2009

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Monozygotic twins with chromosome 22q11 deletion and discordant phenotype

Journal of medical genetics, 1996-03, Vol.33 (3), p.261-261

Hatchwell, E

1996

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The potential role of epigenomic dysregulation in complex human disease

Trends in genetics, 2007-11, Vol.23 (11), p.588-595

2007

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Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation

Journal of medical genetics, 2004-02, Vol.41 (2), p.130-136

2004

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17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome

Clinical genetics, 2007-07, Vol.72 (1), p.47-58

2007

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Mirror hands and feet: a further case of Laurin-Sandrow syndrome

Journal of medical genetics, 1996-05, Vol.33 (5), p.426-428

1996

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Unstable mutation in incontinentia pigmenti?

Journal of medical genetics, 1996-04, Vol.33 (4), p.349-350

Hatchwell, E

1996

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Cathode current-collectors for a novel tubular SOFC design

Journal of power sources, 1998-01, Vol.70 (1), p.85-90

1998

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X-linked sideroblastic anaemia with ataxia: another mitochondrial disease?

Journal of neurology, neurosurgery and psychiatry, 2001-01, Vol.70 (1), p.65-69

2001

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Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: A three-year prospective study

The Journal of pediatrics, 1996-07, Vol.129 (1), p.26-32

1996

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Phenotypic heterogeneity may occur in congenital fibrosis of the extraocular muscles

British journal of ophthalmology, 1998-06, Vol.82 (6), p.676-679

1998

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Differential binding of Escherichia coli McrA protein to DNA sequences that contain the dinucleotide m5CpG

Nucleic acids research, 2010-04, Vol.38 (6), p.1997-2005

2010

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Improving PCR specificity by multiple pre-digestion

Trends in genetics, 1996-11, Vol.12 (11), p.460-460

Hatzburell, Eli

1996

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Array comparative genomic hybridisation of 52 subjects with a Smith–Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay

Journal of medical genetics, 2010-04, Vol.47 (4), p.223-229

2010

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Chemical compatibility of chromium-based interconnect related materials with doped cerium oxide electrolyte

Journal of the European Ceramic Society, 1999-01, Vol.19 (9), p.1697-1703

1999

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Shprintzen-Goldberg syndrome results from mutations in fibrillin-1, not monosomy 22q11

The Journal of pediatrics, 1997-07, Vol.131 (1 Pt 1), p.164-165

Hatchwell, E

1997

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X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: evidence for functional disomy of Xp

Journal of medical genetics, 1996-03, Vol.33 (3), p.216-220

1996

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Optimization of slip-cast La0.8Sr0.2CrO3 perovskite material for use as an interconnect in SOFC applications

Materials letters, 1997-10, Vol.32 (5-6), p.339-345

1997

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Duplication of medial 15q confirmed by FISH

Journal of medical genetics, 2000-08, Vol.37 (8), p.e10-10

2000

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Disruption of contactin 4 in three subjects with autism spectrum disorder

Genetic variation in brain‐derived neurotrophic factor and human fear conditioning

Autism and environmental genomics

An improved method for generating BAC DNA suitable for FISH

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2

Monozygotic twins with chromosome 22q11 deletion and discordant phenotype

The potential role of epigenomic dysregulation in complex human disease

Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation

17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome

Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions

Mirror hands and feet: a further case of Laurin-Sandrow syndrome

Unstable mutation in incontinentia pigmenti?

Cathode current-collectors for a novel tubular SOFC design

X-linked sideroblastic anaemia with ataxia: another mitochondrial disease?

Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: A three-year prospective study

Phenotypic heterogeneity may occur in congenital fibrosis of the extraocular muscles

Differential binding of Escherichia coli McrA protein to DNA sequences that contain the dinucleotide m5CpG

Improving PCR specificity by multiple pre-digestion

Array comparative genomic hybridisation of 52 subjects with a Smith–Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay

Chemical compatibility of chromium-based interconnect related materials with doped cerium oxide electrolyte

Shprintzen-Goldberg syndrome results from mutations in fibrillin-1, not monosomy 22q11

X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: evidence for functional disomy of Xp

Optimization of slip-cast La0.8Sr0.2CrO3 perovskite material for use as an interconnect in SOFC applications

Duplication of medial 15q confirmed by FISH

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