Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Donald W Hadley

Oculofaciocardiodental and Lenz Microphthalmia Syndromes Result From Distinct Classes of Mutations in BCOR

Nature Genetics

English

Related publications

Novel Mutations in BCOR in Three Patients With Oculo-Facio-Cardio-Dental Syndrome, but None in Lenz Microphthalmia Syndrome

European Journal of Human Genetics

English

Pathogenic Variants in the X‐linked BCOR Gene Cause Two Different Syndromes

Acta Ophthalmologica

English

Novel Mutations in PXDN Cause Microphthalmia and Anterior Segment Dysgenesis

European Journal of Human Genetics

English

Mutations Within Helix I of Twist1 Result in Distinct Limb Defects and Variation of DNA Binding Affinities

Journal of Biological Chemistry

Molecular Biology

English

Defective Cardiac Ion Channels: From Mutations to Clinical Syndromes

Journal of Clinical Investigation

English

Cantu Syndrome-Associated SUR2 (ABCC9) Mutations in Distinct Structural Domains Result in KATPchannel Gain-Of-Function by Differential Mechanisms

Journal of Biological Chemistry

Molecular Biology

English

The Escherichia Coli Mutant Requiring D-Glutamic Acid Is the Result of Mutations in Two Distinct Genetic Loci.

Journal of Bacteriology

Molecular Biology

English

Mutations and Karyotype Predict Treatment Response in Myelodysplastic Syndromes

American Journal of Hematology

English

Two Classes of Extragenic Suppressor Mutations Identify Functionally Distinct Regions of the GroEL Chaperone of Escherichia Coli.

Journal of Bacteriology

Molecular Biology

English