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Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies

Circulation. Cardiovascular genetics, 2015-08, Vol.8 (4), p.572-581

2015

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Mutations in the Embryonal Subunit of the Acetylcholine Receptor ( CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome

American journal of human genetics, 2006-08, Vol.79 (2), p.390-395

2006

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Phenotypic Comparison of Two Scottish Families with Mutations in Different Genes Causing Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Epilepsia (Copenhagen), 2003-04, Vol.44 (4), p.613-617

2003

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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Nature genetics, 2009-05, Vol.41 (5), p.535-543

2009

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CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

European journal of human genetics : EJHG, 2010-05, Vol.18 (5), p.544-552

2010

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A novel acropectoral syndrome maps to chromosome 7q36

Journal of medical genetics, 2001-05, Vol.38 (5), p.304-309

2001

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Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation

Blood, 2000-11, Vol.96 (9), p.3256-3264

2000

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The face of Ulnar Mammary syndrome?

European journal of medical genetics, 2011-05, Vol.54 (3), p.301-305

2011

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Clinical features and respiratory complications in Myhre syndrome

European journal of medical genetics, 2011-11, Vol.54 (6), p.e553-e559

2011

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Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays

Nucleic acids research, 2004-01, Vol.32 (20), p.e164-e164

2004

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A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita

Hormone research, 2007-01, Vol.68 (1), p.32-37

2007

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Nine novel L1 CAM mutations in families with X-linked hydrocephalus

Human mutation, 1997, Vol.9 (6), p.512-518

1997

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A lethal multiple pterygium syndrome with apparent X-linked recessive inheritance

American journal of medical genetics, 1987-08, Vol.27 (4), p.913-919

1987

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The Neu-Laxova syndrome in female sibs: Clinical and pathological features with prenatal diagnosis in the second sib

American journal of medical genetics, 1987-05, Vol.27 (1), p.175-182

1987

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Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies

Mutations in the Embryonal Subunit of the Acetylcholine Receptor ( CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome

Phenotypic Comparison of Two Scottish Families with Mutations in Different Genes Causing Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

A novel acropectoral syndrome maps to chromosome 7q36

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor

Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation

The face of Ulnar Mammary syndrome?

Clinical features and respiratory complications in Myhre syndrome

Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays

A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita

Nine novel L1 CAM mutations in families with X-linked hydrocephalus

PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome

A lethal multiple pterygium syndrome with apparent X-linked recessive inheritance

The Neu-Laxova syndrome in female sibs: Clinical and pathological features with prenatal diagnosis in the second sib

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